Variant report

Variant	esv1802134
Chromosome Location	chr5:43476545-43492449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:976)
CpG islands
(count:855)
Chromatin interactive
region (count:166)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:43482697-43483526	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:43483923-43484816	K562	blood:	n/a	n/a
3	ARID3A	chr5:43483868-43484688	HepG2	liver:	n/a	n/a
4	ATF1	chr5:43483865-43484816	K562	blood:	n/a	n/a
5	ATF2	chr5:43483787-43484496	GM12878	blood:	n/a	n/a
6	ATF2	chr5:43483825-43484252	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr5:43483196-43484812	GM12878	blood:	n/a	n/a
8	ATF3	chr5:43483172-43483688	K562	blood:	n/a	n/a
9	ATF3	chr5:43483730-43484297	A549	lung:	n/a	n/a
10	BACH1	chr5:43483681-43484094	K562	blood:	n/a	n/a
11	BACH1	chr5:43483515-43484726	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr5:43483570-43484441	A549	lung:	n/a	n/a
13	BCL3	chr5:43483574-43484645	A549	lung:	n/a	n/a
14	BCLAF1	chr5:43483480-43484920	GM12878	blood:	n/a	n/a
15	BCLAF1	chr5:43483478-43484781	K562	blood:	n/a	n/a
16	BCLAF1	chr5:43483695-43484866	GM12878	blood:	n/a	n/a
17	BCLAF1	chr5:43483705-43484745	K562	blood:	n/a	n/a
18	BHLHE40	chr5:43483801-43484782	GM12878	blood:	n/a	n/a
19	BHLHE40	chr5:43483770-43484713	HepG2	liver:	n/a	n/a
20	BHLHE40	chr5:43482771-43483001	K562	blood:	n/a	n/a
21	BHLHE40	chr5:43483368-43484918	K562	blood:	n/a	n/a
22	BRCA1	chr5:43483903-43484102	GM12878	blood:	n/a	n/a
23	BRCA1	chr5:43483621-43484164	HepG2	liver:	n/a	n/a
24	BRCA1	chr5:43484016-43484559	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr5:43482529-43485182	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr5:43483306-43484842	K562	blood:	n/a	n/a
27	CBX3	chr5:43483641-43484762	K562	blood:	n/a	n/a
28	CBX3	chr5:43481600-43482003	K562	blood:	n/a	n/a
29	CCNT2	chr5:43485864-43486001	K562	blood:	n/a	n/a
30	CCNT2	chr5:43483355-43484656	K562	blood:	n/a	chr5:43483633-43483642 chr5:43483883-43483892 chr5:43484143-43484152
31	CEBPB	chr5:43485804-43485820	K562	blood:	n/a	n/a
32	CEBPB	chr5:43482136-43482424	IMR90	lung:	n/a	chr5:43482286-43482297
33	CEBPB	chr5:43491446-43491797	Hela-S3	cervix:	n/a	chr5:43491619-43491628 chr5:43491619-43491628 chr5:43491619-43491628 chr5:43491617-43491630 chr5:43491617-43491628
34	CEBPB	chr5:43491464-43491806	IMR90	lung:	n/a	chr5:43491619-43491628 chr5:43491619-43491628 chr5:43491619-43491628 chr5:43491617-43491630 chr5:43491617-43491628
35	CEBPB	chr5:43491453-43491863	A549	lung:	n/a	chr5:43491619-43491628 chr5:43491619-43491628 chr5:43491619-43491628 chr5:43491617-43491630 chr5:43491617-43491628
36	CEBPB	chr5:43484275-43484736	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr5:43482177-43482437	HepG2	liver:	n/a	chr5:43482286-43482297
38	CEBPB	chr5:43476884-43476911	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr5:43485682-43485863	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr5:43483336-43483510	HepG2	liver:	n/a	chr5:43483423-43483434
41	CEBPB	chr5:43483231-43483617	A549	lung:	n/a	chr5:43483423-43483434
42	CEBPB	chr5:43486887-43487093	A549	lung:	n/a	n/a
43	CEBPB	chr5:43483234-43483733	HepG2	liver:	n/a	chr5:43483423-43483434
44	CEBPB	chr5:43491437-43491780	H1-hESC	embryonic stem cell:	n/a	chr5:43491619-43491628 chr5:43491619-43491628 chr5:43491619-43491628 chr5:43491617-43491630 chr5:43491617-43491628
45	CEBPB	chr5:43483782-43484240	ECC-1	luminal epithelium:	n/a	n/a
46	CEBPB	chr5:43484392-43485117	K562	blood:	n/a	n/a
47	CEBPB	chr5:43482214-43482369	A549	lung:	n/a	chr5:43482286-43482297
48	CEBPB	chr5:43486472-43487036	K562	blood:	n/a	chr5:43486623-43486634
49	CEBPB	chr5:43483155-43484240	A549	lung:	n/a	chr5:43483423-43483434
50	CEBPB	chr5:43483170-43483634	H1-hESC	embryonic stem cell:	n/a	chr5:43483423-43483434

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43483764-43483814	BJ	skin:	n/a
2	chr5:43483764-43483814	BJ	skin:	n/a
3	chr5:43483681-43483731	Jurkat	blood:	n/a
4	chr5:43484084-43484134	HAEpiC	amniotic membrane:	n/a
5	chr5:43483681-43483731	U87	brain:	n/a
6	chr5:43483764-43483814	HUVEC	blood vessel:	n/a
7	chr5:43483906-43483956	SKMC	muscle:	n/a
8	chr5:43484554-43484604	ECC-1	luminal epithelium:	n/a
9	chr5:43484084-43484134	ECC-1	luminal epithelium:	n/a
10	chr5:43484102-43484152	HNPCEpiC	eye:	n/a
11	chr5:43482804-43482854	AG04450	lung:	fetal
12	chr5:43484146-43484196	HMEC	breast:	n/a
13	chr5:43483906-43483956	SK-N-SH	brain:	n/a
14	chr5:43483681-43483731	HIPEpiC	eye:	n/a
15	chr5:43487508-43487558	AoSMC	blood vessel:	n/a
16	chr5:43484084-43484134	BE2_C	brain:	n/a
17	chr5:43484084-43484134	HEEpiC	esophagus:	n/a
18	chr5:43484146-43484196	A549	lung:	n/a
19	chr5:43484554-43484604	AG04450	lung:	fetal
20	chr5:43484130-43484180	HEEpiC	esophagus:	n/a
21	chr5:43484130-43484180	ovcar-3	ovarian:	n/a
22	chr5:43484146-43484196	SK-N-SH_RA	brain:	n/a
23	chr5:43484084-43484134	H1-hESC	embryonic stem cell:	embryo
24	chr5:43484102-43484152	NH-A	brain:	n/a
25	chr5:43484146-43484196	AG04449	skin:	fetal
26	chr5:43483906-43483956	HEK293	kidney:	embryo
27	chr5:43483681-43483731	HMEC	breast:	n/a
28	chr5:43484725-43484775	K562	blood:	n/a
29	chr5:43483764-43483814	PFSK-1	brain:	n/a
30	chr5:43484146-43484196	HL-60	blood:	n/a
31	chr5:43484385-43484435	HCF	heart:	n/a
32	chr5:43484554-43484604	Hepatocyte	liver:	n/a
33	chr5:43484554-43484604	HPAEpiC	pulmonary alveolar:	n/a
34	chr5:43484102-43484152	NHDF-neo	bronchial:	n/a
35	chr5:43484554-43484604	IMR90	lung:	fetal
36	chr5:43484146-43484196	K562	blood:	n/a
37	chr5:43483681-43483731	SAEC	small airway:	n/a
38	chr5:43484725-43484775	NHBE	bronchial:	n/a
39	chr5:43480361-43480411	Caco-2	colon:	n/a
40	chr5:43484385-43484435	SK-N-SH_RA	brain:	n/a
41	chr5:43480361-43480411	GM12878	blood:	n/a
42	chr5:43482804-43482854	Hela-S3	cervix:	n/a
43	chr5:43484725-43484775	HAEpiC	amniotic membrane:	n/a
44	chr5:43484102-43484152	PANC-1	pancreas:	n/a
45	chr5:43480361-43480411	PrEC	prostate:	n/a
46	chr5:43484273-43484323	T-47D	breast:	n/a
47	chr5:43484385-43484435	SAEC	small airway:	n/a
48	chr5:43484725-43484775	HRCEpiC	kidney:	n/a
49	chr5:43484084-43484134	HRPEpiC	eye:	n/a
50	chr5:43484725-43484775	MCF-7	breast:	n/a

(count:166 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr1:27816634..27817604-chr5:43483507..43484516,3	Hela-S3	cervix:
2	chr5:43481246..43484731-chr5:43603166..43606245,4	K562	blood:
3	chr5:43482505..43485566-chr5:43554663..43558409,7	MCF-7	breast:
4	chr5:43311965..43313720-chr5:43482211..43483859,2	K562	blood:
5	chr17:60501232..60501759-chr5:43483854..43484414,2	Hela-S3	cervix:
6	chr21:45758776..45759711-chr5:43483543..43484104,2	Hela-S3	cervix:
7	chr5:43475623..43478316-chr5:43514281..43516099,2	MCF-7	breast:
8	chr15:93352624..93353396-chr5:43483790..43484492,2	Hela-S3	cervix:
9	chr5:43490501..43492495-chr5:43553054..43555235,2	MCF-7	breast:
10	chr19:13263494..13264686-chr5:43483426..43484589,4	Hela-S3	cervix:
11	chr5:43482924..43484837-chr5:43505826..43508408,3	MCF-7	breast:
12	chr5:43073690..43076137-chr5:43481731..43483663,2	MCF-7	breast:
13	chr5:43489377..43492183-chr5:43502657..43505496,3	K562	blood:
14	chr3:43732226..43732920-chr5:43483604..43484528,2	Hela-S3	cervix:
15	chr1:101361119..101361834-chr5:43483462..43484020,2	Hela-S3	cervix:
16	chr5:43283734..43286353-chr5:43486152..43488846,2	K562	blood:
17	chr5:43395714..43399246-chr5:43475747..43479018,3	MCF-7	breast:
18	chr10:98345600..98346536-chr5:43483382..43484086,2	Hela-S3	cervix:
19	chr5:43475458..43478438-chr5:43602364..43603986,2	K562	blood:
20	chr10:33247150..33247825-chr5:43483914..43484733,2	Hela-S3	cervix:
21	chr5:43458100..43461748-chr5:43479402..43482480,3	MCF-7	breast:
22	chr5:43458177..43460519-chr5:43482121..43483647,2	K562	blood:
23	chr1:155904041..155904596-chr5:43483823..43484659,2	Hela-S3	cervix:
24	chr3:99536369..99537348-chr5:43483024..43483929,2	Hela-S3	cervix:
25	chr19:1261465..1262059-chr5:43483455..43484340,2	Hela-S3	cervix:
26	chr11:28129532..28130263-chr5:43483493..43484237,2	Hela-S3	cervix:
27	chr5:612364..613256-chr5:43483429..43484049,2	Hela-S3	cervix:
28	chr5:43482483..43486113-chr5:43601084..43606081,7	K562	blood:
29	chr5:43479992..43486255-chr5:43553479..43560182,13	MCF-7	breast:
30	chr5:43062770..43067811-chr5:43482181..43486392,9	K562	blood:
31	chr1:68150827..68151401-chr5:43483935..43484592,2	Hela-S3	cervix:
32	chr5:43459318..43461346-chr5:43477850..43480829,2	K562	blood:
33	chr5:43487601..43489492-chr5:43600088..43602160,2	K562	blood:
34	chr5:16465709..16466219-chr5:43483914..43484643,2	Hela-S3	cervix:
35	chr3:160116819..160117557-chr5:43483507..43484271,3	Hela-S3	cervix:
36	chr5:43483848..43484574-chr7:108166325..108167041,2	Hela-S3	cervix:
37	chr17:41464320..41464847-chr5:43483783..43484661,2	NB4	blood:
38	chr5:43483487..43484423-chrX:102941052..102941712,2	Hela-S3	cervix:
39	chr11:57435390..57435953-chr5:43483041..43483860,2	Hela-S3	cervix:
40	chr5:43481776..43485753-chr5:43513662..43518339,9	MCF-7	breast:
41	chr5:43484327..43484850-chr5:44876210..44877157,2	Hela-S3	cervix:
42	chr12:123010820..123011777-chr5:43483665..43484185,2	Hela-S3	cervix:
43	chr21:36260433..36261268-chr5:43482877..43483865,2	Hela-S3	cervix:
44	chr3:149375119..149375777-chr5:43483768..43484596,2	Hela-S3	cervix:
45	chr12:107349557..107350126-chr5:43483366..43484255,2	Hela-S3	cervix:
46	chr19:41256644..41257237-chr5:43484468..43485130,2	Hela-S3	cervix:
47	chr5:43483358..43483893-chr6:170124844..170125678,2	Hela-S3	cervix:
48	chr5:43483486..43484618-chr9:131709555..131710889,3	Hela-S3	cervix:
49	chr11:3013443..3014405-chr5:43483115..43483926,2	Hela-S3	cervix:
50	chr5:43485676..43488495-chr5:43528382..43530215,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NNT-3	chr5:43488146-43488542	ENSG00000249492.1
2	lnc-NNT-3	chr5:43484061-43484103	ENSG00000249492.1
3	lnc-NNT-3	chr5:43488146-43488244	ENSG00000249492.1
4	lnc-NNT-3	chr5:43484174-43484403	ENSG00000249492.1

No data

Variant related genes	Relation type
ENSG00000249492	TF binding region
C5orf28	TF binding region
ENSG00000249492	CpG island
C5orf28	CpG island
ENSG00000185787	chromatin interactions
ENSG00000144827	chromatin interactions
ENSG00000185442	chromatin interactions
ENSG00000173545	chromatin interactions
ENSG00000123136	chromatin interactions
ENSG00000243943	chromatin interactions
ENSG00000077147	chromatin interactions
ENSG00000121621	chromatin interactions
ENSG00000100949	chromatin interactions
ENSG00000187266	chromatin interactions
ENSG00000169813	chromatin interactions
ENSG00000176105	chromatin interactions
ENSG00000171766	chromatin interactions
ENSG00000164104	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000225361	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000080546	chromatin interactions
ENSG00000248554	chromatin interactions
ENSG00000169519	chromatin interactions
ENSG00000207005	chromatin interactions
ENSG00000189362	chromatin interactions
ENSG00000170889	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000177721	chromatin interactions
ENSG00000136444	chromatin interactions
ENSG00000124225	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000100815	chromatin interactions
ENSG00000136810	chromatin interactions
ENSG00000136527	chromatin interactions
ENSG00000087995	chromatin interactions
ENSG00000177738	chromatin interactions
ENSG00000167785	chromatin interactions
ENSG00000101193	chromatin interactions
ENSG00000135241	chromatin interactions
ENSG00000249888	chromatin interactions
ENSG00000116717	chromatin interactions
ENSG00000046651	chromatin interactions
ENSG00000162695	chromatin interactions
ENSG00000151876	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000176788	chromatin interactions
ENSG00000141371	chromatin interactions
ENSG00000112972	chromatin interactions
ENSG00000172244	chromatin interactions
ENSG00000227704	chromatin interactions
ENSG00000196422	chromatin interactions
ENSG00000266070	chromatin interactions
ENSG00000100714	chromatin interactions
ENSG00000117308	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000145632	chromatin interactions
ENSG00000196459	chromatin interactions
ENSG00000179912	chromatin interactions
ENSG00000260238	chromatin interactions
ENSG00000205531	chromatin interactions
ENSG00000072274	chromatin interactions
ENSG00000213221	chromatin interactions
ENSG00000156599	chromatin interactions
ENSG00000157426	chromatin interactions
ENSG00000112081	chromatin interactions
ENSG00000215068	chromatin interactions
ENSG00000160602	chromatin interactions
ENSG00000116560	chromatin interactions
ENSG00000248092	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000095319	chromatin interactions
ENSG00000100393	chromatin interactions
ENSG00000116161	chromatin interactions
ENSG00000174780	chromatin interactions
ENSG00000132680	chromatin interactions
ENSG00000150093	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000185480	chromatin interactions
ENSG00000077312	chromatin interactions
ENSG00000103495	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000170948	chromatin interactions
ENSG00000211575	chromatin interactions
ENSG00000100485	chromatin interactions
ENSG00000005022	chromatin interactions
ENSG00000151135	chromatin interactions
ENSG00000170832	chromatin interactions
ENSG00000103111	chromatin interactions
ENSG00000080603	chromatin interactions
ENSG00000112877	chromatin interactions
ENSG00000254639	chromatin interactions
ENSG00000257621	chromatin interactions
ENSG00000229729	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000269921	chromatin interactions
ENSG00000111011	chromatin interactions
ENSG00000011198	chromatin interactions
ENSG00000160783	chromatin interactions
ENSG00000145901	chromatin interactions
ENSG00000140941	chromatin interactions
ENSG00000177453	chromatin interactions
ENSG00000151882	chromatin interactions
ENSG00000139971	chromatin interactions
ENSG00000175283	chromatin interactions
ENSG00000161960	chromatin interactions
ENSG00000075188	chromatin interactions
ENSG00000101191	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000159216	chromatin interactions
ENSG00000248240	chromatin interactions
ENSG00000068885	chromatin interactions
ENSG00000168003	chromatin interactions
ENSG00000229656	chromatin interactions
ENSG00000171703	chromatin interactions
ENSG00000166595	chromatin interactions
ENSG00000258001	chromatin interactions
ENSG00000158195	chromatin interactions
ENSG00000135750	chromatin interactions
ENSG00000125347	chromatin interactions
ENSG00000018408	chromatin interactions
ENSG00000172239	chromatin interactions
ENSG00000198862	chromatin interactions
ENSG00000184220	chromatin interactions
ENSG00000182400	chromatin interactions
ENSG00000162694	chromatin interactions
ENSG00000136807	chromatin interactions
ENSG00000171763	chromatin interactions
ENSG00000255717	chromatin interactions
ENSG00000125730	chromatin interactions
ENSG00000112992	chromatin interactions
ENSG00000113810	chromatin interactions
ENSG00000224281	chromatin interactions
ENSG00000176896	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000196372	chromatin interactions
ENSG00000187097	chromatin interactions
ENSG00000123562	chromatin interactions
ENSG00000267598	chromatin interactions
ENSG00000160746	chromatin interactions
ENSG00000147676	chromatin interactions
ENSG00000271788	chromatin interactions
ENSG00000110711	chromatin interactions

Extended variants
information (count: 570 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6896693	chr5:43476545-43476546	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs67848213	chr5:43476611-43476612	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs375376667	chr5:43476615-43476616	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs559991748	chr5:43476638-43476639	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs397997598	chr5:43476639-43476640	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs537788461	chr5:43476655-43476656	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs199855648	chr5:43476707-43476708	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs555882005	chr5:43476709-43476710	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs141074398	chr5:43476729-43476730	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs150267841	chr5:43476805-43476806	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs541853973	chr5:43476838-43476839	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs191459796	chr5:43476857-43476858	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs572202270	chr5:43476901-43476902	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs541213074	chr5:43476908-43476909	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs182788817	chr5:43476930-43476931	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs201187963	chr5:43476970-43476971	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs533074688	chr5:43476995-43476996	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs202069515	chr5:43476997-43476998	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs563445757	chr5:43477122-43477123	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs529215769	chr5:43477152-43477153	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs371829293	chr5:43477249-43477250	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs548987143	chr5:43477267-43477268	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs112339287	chr5:43477291-43477292	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs141936914	chr5:43477299-43477300	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs2132004	chr5:43477311-43477312	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs116018654	chr5:43477343-43477344	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs74826072	chr5:43477344-43477345	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs374720138	chr5:43477457-43477458	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs572927968	chr5:43477466-43477467	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs145899192	chr5:43477481-43477482	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs188256304	chr5:43477506-43477507	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs537249854	chr5:43477538-43477539	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs191745754	chr5:43477558-43477559	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs4541663	chr5:43477593-43477594	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs535421806	chr5:43477636-43477637	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs555439179	chr5:43477651-43477652	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs572163637	chr5:43477687-43477688	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs10717949	chr5:43477714-43477715	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs372842196	chr5:43477738-43477739	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs541176113	chr5:43477799-43477800	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs183594281	chr5:43477812-43477813	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs576834914	chr5:43477840-43477841	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs187865851	chr5:43477902-43477903	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs543268108	chr5:43477958-43477959	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs192382476	chr5:43477969-43477970	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs529177387	chr5:43477990-43477991	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs183661603	chr5:43478011-43478012	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs370424813	chr5:43478058-43478059	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs186480310	chr5:43478064-43478065	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs375460200	chr5:43478107-43478108	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:743 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43433800-43483400	Weak transcription	Gastric	stomach
2	chr5:43444000-43482600	Weak transcription	HMEC	breast
3	chr5:43444800-43482600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:43453800-43482600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:43454000-43482400	Weak transcription	Osteobl	bone
6	chr5:43454800-43482800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:43461000-43482400	Weak transcription	NHLF	lung
8	chr5:43461200-43482800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:43461200-43483400	Weak transcription	Pancreas	Pancrea
10	chr5:43462200-43482600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:43462200-43482600	Weak transcription	Fetal Stomach	stomach
12	chr5:43462200-43482800	Weak transcription	Right Ventricle	heart
13	chr5:43462400-43483000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:43462400-43483400	Weak transcription	Spleen	Spleen
15	chr5:43464200-43480000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:43465600-43481200	Weak transcription	HepG2	liver
17	chr5:43467000-43482000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr5:43467000-43482800	Weak transcription	Primary T cells from cord blood	blood
19	chr5:43467200-43482800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:43467600-43482400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:43467800-43479800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:43467800-43482400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr5:43468000-43480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr5:43468000-43480200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:43468000-43482400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:43468000-43482600	Weak transcription	Adipose Nuclei	Adipose
27	chr5:43468000-43482800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:43468200-43482400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:43468200-43482600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:43468200-43482600	Weak transcription	Liver	Liver
31	chr5:43468200-43482600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:43468200-43482800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:43468200-43482800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:43468200-43482800	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:43468200-43482800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:43468200-43482800	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:43468200-43482800	Weak transcription	Fetal Thymus	thymus
38	chr5:43468200-43482800	Weak transcription	Thymus	Thymus
39	chr5:43468200-43483200	Weak transcription	Aorta	Aorta
40	chr5:43468600-43482400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:43468800-43482800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:43468800-43483400	Weak transcription	Ovary	ovary
43	chr5:43469200-43482400	Weak transcription	Fetal Lung	lung
44	chr5:43470200-43481800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:43470200-43482200	Weak transcription	HSMMtube	muscle
46	chr5:43470200-43483000	Weak transcription	Fetal Intestine Small	intestine
47	chr5:43470600-43477800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:43470600-43480000	Weak transcription	A549	lung
49	chr5:43470600-43483400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:43470800-43482200	Weak transcription	HSMM	muscle

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