Variant report

Variant	esv3350599
Chromosome Location	chr4:74122400-74142462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1281)
CpG islands
(count:489)
Chromatin interactive
region (count:44)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:74140782-74141298	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:74124481-74125312	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:74122868-74123297	K562	blood:	n/a	n/a
4	ARID3A	chr4:74124747-74125476	K562	blood:	n/a	n/a
5	ARID3A	chr4:74122867-74123866	HepG2	liver:	n/a	n/a
6	ATF1	chr4:74124552-74125611	K562	blood:	n/a	n/a
7	ATF2	chr4:74124551-74125311	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr4:74124628-74125058	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr4:74124324-74125539	GM12878	blood:	n/a	n/a
10	ATF2	chr4:74124639-74125152	GM12878	blood:	n/a	n/a
11	ATF3	chr4:74124629-74125209	GM12878	blood:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
12	ATF3	chr4:74124792-74125006	GM12878	blood:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
13	ATF3	chr4:74124659-74125022	K562	blood:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
14	ATF3	chr4:74124694-74125030	H1-hESC	embryonic stem cell:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
15	ATF3	chr4:74122990-74123169	GM12878	blood:	n/a	n/a
16	ATF3	chr4:74124625-74125063	K562	blood:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
17	ATF3	chr4:74124704-74125117	K562	blood:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
18	ATF3	chr4:74124647-74125106	H1-hESC	embryonic stem cell:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
19	ATF3	chr4:74124713-74125028	HepG2	liver:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
20	BACH1	chr4:74124713-74124895	K562	blood:	n/a	n/a
21	BACH1	chr4:74124758-74125057	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr4:74123727-74123927	K562	blood:	n/a	n/a
23	BACH1	chr4:74124307-74124446	H1-hESC	embryonic stem cell:	n/a	n/a
24	BCL3	chr4:74124550-74124949	A549	lung:	n/a	chr4:74124874-74124883
25	BCL3	chr4:74124576-74125148	A549	lung:	n/a	chr4:74124874-74124883
26	BCL3	chr4:74124779-74124984	GM12878	blood:	n/a	chr4:74124874-74124883
27	BCL3	chr4:74124694-74125121	GM12878	blood:	n/a	chr4:74124874-74124883
28	BCLAF1	chr4:74124540-74125487	GM12878	blood:	n/a	chr4:74124874-74124883
29	BCLAF1	chr4:74124494-74125417	GM12878	blood:	n/a	chr4:74124874-74124883
30	BCLAF1	chr4:74122811-74123298	GM12878	blood:	n/a	n/a
31	BCLAF1	chr4:74124554-74125191	K562	blood:	n/a	chr4:74124874-74124883
32	BHLHE40	chr4:74122954-74125504	K562	blood:	n/a	n/a
33	BHLHE40	chr4:74122988-74125302	HepG2	liver:	n/a	n/a
34	BHLHE40	chr4:74124120-74125890	GM12878	blood:	n/a	n/a
35	BHLHE40	chr4:74122871-74123860	GM12878	blood:	n/a	n/a
36	BRCA1	chr4:74124199-74124921	GM12878	blood:	n/a	chr4:74124555-74124564
37	BRCA1	chr4:74124277-74125049	HepG2	liver:	n/a	chr4:74124555-74124564
38	BRCA1	chr4:74123838-74125599	Hela-S3	cervix:	n/a	chr4:74124555-74124564
39	BRCA1	chr4:74124449-74125081	H1-hESC	embryonic stem cell:	n/a	chr4:74124555-74124564
40	CBX3	chr4:74124542-74125089	K562	blood:	n/a	n/a
41	CBX3	chr4:74124732-74125001	K562	blood:	n/a	n/a
42	CBX3	chr4:74123634-74124118	K562	blood:	n/a	n/a
43	CCNT2	chr4:74122953-74123185	K562	blood:	n/a	n/a
44	CCNT2	chr4:74123963-74125179	K562	blood:	n/a	chr4:74124413-74124422
45	CEBPB	chr4:74124738-74125075	HepG2	liver:	n/a	n/a
46	CEBPB	chr4:74124729-74125085	IMR90	lung:	n/a	n/a
47	CEBPB	chr4:74131396-74131596	A549	lung:	n/a	n/a
48	CEBPB	chr4:74131335-74131678	IMR90	lung:	n/a	n/a
49	CEBPB	chr4:74122959-74123592	HepG2	liver:	n/a	n/a
50	CEBPB	chr4:74124786-74125076	H1-hESC	embryonic stem cell:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:74124971-74125021	HCPEpiC	choroid plexus:	n/a
2	chr4:74124971-74125021	HCPEpiC	choroid plexus:	n/a
3	chr4:74124864-74124914	AoSMC	blood vessel:	n/a
4	chr4:74124464-74124514	AG09319	gingival:	n/a
5	chr4:74124864-74124914	PANC-1	pancreas:	n/a
6	chr4:74124058-74124108	IMR90	lung:	fetal
7	chr4:74124864-74124914	HCT-116	colon:	n/a
8	chr4:74125882-74125932	HPAEpiC	pulmonary alveolar:	n/a
9	chr4:74124502-74124552	SK-N-SH	brain:	n/a
10	chr4:74125882-74125932	H1-hESC	embryonic stem cell:	embryo
11	chr4:74124464-74124514	HAEpiC	amniotic membrane:	n/a
12	chr4:74125882-74125932	HL-60	blood:	n/a
13	chr4:74124464-74124514	K562	blood:	n/a
14	chr4:74124971-74125021	HCM	heart:	n/a
15	chr4:74128032-74128082	H1-hESC	embryonic stem cell:	embryo
16	chr4:74124971-74125021	AG10803	skin:	n/a
17	chr4:74124971-74125021	RPTEC	kidney:	n/a
18	chr4:74128032-74128082	HAEpiC	amniotic membrane:	n/a
19	chr4:74124772-74124822	LNCaP	prostate:	n/a
20	chr4:74124864-74124914	IMR90	lung:	fetal
21	chr4:74124464-74124514	HEEpiC	esophagus:	n/a
22	chr4:74124772-74124822	SK-N-MC	brain:	n/a
23	chr4:74124058-74124108	Caco-2	colon:	n/a
24	chr4:74124772-74124822	HEK293	kidney:	embryo
25	chr4:74124502-74124552	A549	lung:	n/a
26	chr4:74128032-74128082	HMEC	breast:	n/a
27	chr4:74124772-74124822	AG09309	skin:	n/a
28	chr4:74124502-74124552	Jurkat	blood:	n/a
29	chr4:74124772-74124822	MCF-7	breast:	n/a
30	chr4:74128032-74128082	GM12891	blood:	n/a
31	chr4:74124058-74124108	PANC-1	pancreas:	n/a
32	chr4:74124864-74124914	SK-N-SH	brain:	n/a
33	chr4:74124464-74124514	AoSMC	blood vessel:	n/a
34	chr4:74124502-74124552	K562	blood:	n/a
35	chr4:74124971-74125021	GM19239	blood:	n/a
36	chr4:74124502-74124552	GM06990	blood:	n/a
37	chr4:74124971-74125021	HCT-116	colon:	n/a
38	chr4:74124971-74125021	H1-hESC	embryonic stem cell:	embryo
39	chr4:74124058-74124108	HRE	kidney:	n/a
40	chr4:74124772-74124822	IMR90	lung:	fetal
41	chr4:74124058-74124108	RPTEC	kidney:	n/a
42	chr4:74128032-74128082	AG09309	skin:	n/a
43	chr4:74124772-74124822	GM19239	blood:	n/a
44	chr4:74124058-74124108	HCM	heart:	n/a
45	chr4:74124864-74124914	HRCEpiC	kidney:	n/a
46	chr4:74124971-74125021	HUVEC	blood vessel:	n/a
47	chr4:74124864-74124914	NH-A	brain:	n/a
48	chr4:74125882-74125932	Hepatocyte	liver:	n/a
49	chr4:74128032-74128082	T-47D	breast:	n/a
50	chr4:74124864-74124914	GM06990	blood:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74135514..74138009-chr4:74140211..74141739,2	K562	blood:
2	chr4:73992225..73994426-chr4:74125151..74126753,2	MCF-7	breast:
3	chr4:73992240..73994706-chr4:74121884..74123760,2	MCF-7	breast:
4	chr4:74124866..74125788-chr7:2393646..2394152,2	NB4	blood:
5	chr4:74128166..74131091-chr4:74138285..74142360,3	K562	blood:
6	chr4:74122515..74124717-chr4:75023066..75024638,2	K562	blood:
7	chr4:74136992..74139816-chr4:74149704..74153083,3	K562	blood:
8	chr4:74124745..74125372-chr4:83821363..83821919,2	Hela-S3	cervix:
9	chr17:79823864..79825760-chr4:74123183..74125503,2	MCF-7	breast:
10	chr4:74122787..74125234-chr4:74138811..74141943,4	K562	blood:
11	chr4:73932730..73938383-chr4:74120374..74126369,19	MCF-7	breast:
12	chr4:74124228..74125076-chr8:42128745..42129368,2	NB4	blood:
13	chr4:73935119..73935893-chr4:74123941..74124455,2	Hela-S3	cervix:
14	chr4:73932413..73938405-chr4:74120693..74126649,20	K562	blood:
15	chr4:74135514..74138009-chr4:74140211..74141739,2	K562	blood:
16	chr4:74086715..74092062-chr4:74122892..74125871,6	MCF-7	breast:
17	chr4:74128155..74131339-chr4:74138850..74142160,4	MCF-7	breast:
18	chr17:42147473..42148416-chr4:74124403..74125344,2	HCT-116	colon:
19	chr4:74132926..74135359-chr4:74140431..74141977,2	MCF-7	breast:
20	chr2:20646726..20647344-chr4:74124211..74124885,2	Hela-S3	cervix:
21	chr12:62653264..62653975-chr4:74124745..74125258,2	Hela-S3	cervix:
22	chr4:73933241..73936398-chr4:74129248..74132357,3	MCF-7	breast:
23	chr12:69753396..69754056-chr4:74124292..74124862,2	Hela-S3	cervix:
24	chr1:144533847..144534452-chr4:74124444..74125286,2	Hela-S3	cervix:
25	chr4:74122758..74124743-chr4:74269712..74272494,2	K562	blood:
26	chr4:74086092..74089125-chr4:74123157..74126277,4	MCF-7	breast:
27	chr4:73933921..73935498-chr4:74129448..74131730,2	MCF-7	breast:
28	chr4:74123816..74126777-chr4:74138438..74142667,6	MCF-7	breast:
29	chr4:74124085..74126350-chr4:74135342..74138144,2	MCF-7	breast:
30	chr4:74087106..74090351-chr4:74123421..74126445,9	K562	blood:
31	chr4:73901915..73904416-chr4:74135618..74138352,2	K562	blood:
32	chr4:74123460..74124971-chr6:27773658..27776230,2	MCF-7	breast:
33	chr4:73967876..73970558-chr4:74123013..74124947,2	MCF-7	breast:
34	chr4:74123296..74125010-chr4:74605307..74607860,2	K562	blood:
35	chr4:74124568..74125245-chr6:27114804..27115408,2	Hela-S3	cervix:
36	chr4:73944384..73947318-chr4:74125814..74128243,2	MCF-7	breast:
37	chr4:74124620..74125164-chr8:33370566..33371199,2	Hela-S3	cervix:
38	chr17:7387578..7388352-chr4:74123868..74124804,2	HCT-116	colon:
39	chr4:73933853..73938156-chr4:74122325..74126609,11	MCF-7	breast:
40	chr4:74124231..74124959-chr7:121036035..121036652,2	HCT-116	colon:
41	chr4:74018332..74023301-chr4:74122420..74126136,8	MCF-7	breast:
42	chr4:74132926..74135359-chr4:74140431..74141977,2	MCF-7	breast:
43	chr4:73929823..73938112-chr4:74120693..74129342,27	K562	blood:
44	chr4:73968348..73971622-chr4:74123384..74126959,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALB-1	chr4:74135541-74135670	ENSG00000250220.1
2	lnc-ALB-1	chr4:74124926-74125125	ENSG00000250220.1
3	lnc-ALB-6	chr4:74140715-74140939	NONHSAT096838
4	lnc-ALB-1	chr4:74124504-74130555	NONHSAT096836

No data

Variant related genes	Relation type
ANKRD17	TF binding region
ENSG00000221639	TF binding region
ENSG00000250220	TF binding region
ANKRD17	CpG island
ENSG00000221639	CpG island
ENSG00000250220	CpG island
ENSG00000201699	chromatin interactions
ENSG00000196937	chromatin interactions
ENSG00000198673	chromatin interactions
ENSG00000251022	chromatin interactions
ENSG00000221639	chromatin interactions
ENSG00000269559	chromatin interactions
ENSG00000168152	chromatin interactions
ENSG00000239039	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000132466	chromatin interactions
ENSG00000163626	chromatin interactions
ENSG00000217862	chromatin interactions
ENSG00000262413	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000127337	chromatin interactions
ENSG00000141349	chromatin interactions
ENSG00000163738	chromatin interactions
ENSG00000163631	chromatin interactions
ENSG00000106263	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000138674	chromatin interactions
ENSG00000106266	chromatin interactions
ENSG00000143878	chromatin interactions
ENSG00000250220	chromatin interactions
ENSG00000196747	chromatin interactions
ENSG00000129696	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000185130	chromatin interactions
ENSG00000104365	chromatin interactions
ENSG00000169429	chromatin interactions

Extended variants
information (count: 621 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571575863	chr4:74122462-74122463	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs538669833	chr4:74122477-74122478	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs200217747	chr4:74122485-74122486	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs374678767	chr4:74122500-74122501	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs369083892	chr4:74122607-74122608	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs192176746	chr4:74122611-74122612	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs577520082	chr4:74122654-74122655	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs373524417	chr4:74122697-74122698	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs543234844	chr4:74122702-74122703	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs555249043	chr4:74122722-74122723	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs573238123	chr4:74122724-74122725	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs72663030	chr4:74122744-74122745	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs140715037	chr4:74122751-74122752	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs183921158	chr4:74122911-74122912	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs576746255	chr4:74122948-74122949	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs377444384	chr4:74122967-74122968	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs555076736	chr4:74122981-74122982	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs144676548	chr4:74122990-74122991	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs529777604	chr4:74123019-74123020	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs547975057	chr4:74123092-74123093	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs147907130	chr4:74123119-74123120	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs527504004	chr4:74123126-74123127	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs370871144	chr4:74123147-74123148	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs570675274	chr4:74123154-74123155	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs539009799	chr4:74123160-74123161	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs551035750	chr4:74123179-74123180	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs543615349	chr4:74123273-74123274	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs569370941	chr4:74123423-74123424	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs563489816	chr4:74123481-74123482	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs536700688	chr4:74123638-74123639	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs555113870	chr4:74123684-74123685	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs573352898	chr4:74123690-74123691	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs534153020	chr4:74123714-74123715	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs559180492	chr4:74123721-74123722	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs188469318	chr4:74123761-74123762	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs149077932	chr4:74123762-74123763	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs562188943	chr4:74123775-74123776	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs573742524	chr4:74123800-74123801	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs72663032	chr4:74123838-74123839	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559829291	chr4:74123882-74123883	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs192995198	chr4:74123886-74123887	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs552122317	chr4:74123888-74123889	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs571347796	chr4:74123923-74123924	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs200764416	chr4:74123938-74123939	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs559107030	chr4:74123946-74123947	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs368868653	chr4:74123952-74123953	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs371217653	chr4:74123985-74123986	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs141255932	chr4:74124047-74124048	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs144971270	chr4:74124054-74124055	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs201649070	chr4:74124062-74124063	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:708 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74056000-74123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:74059600-74123000	Weak transcription	Esophagus	oesophagus
3	chr4:74078200-74123000	Weak transcription	Lung	lung
4	chr4:74087800-74123400	Weak transcription	Gastric	stomach
5	chr4:74099800-74122400	Weak transcription	Stomach Mucosa	stomach
6	chr4:74101000-74122600	Weak transcription	Fetal Stomach	stomach
7	chr4:74101000-74123000	Weak transcription	Placenta	Placenta
8	chr4:74101200-74122400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:74102200-74122400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:74106600-74123000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:74111200-74122400	Weak transcription	Ovary	ovary
12	chr4:74111400-74122400	Weak transcription	Colonic Mucosa	Colon
13	chr4:74111400-74122800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:74111400-74123000	Weak transcription	Pancreas	Pancrea
15	chr4:74112400-74122400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:74112400-74123200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:74116400-74123400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:74116800-74122600	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:74116800-74123000	Weak transcription	Left Ventricle	heart
20	chr4:74117000-74122800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:74118600-74122800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr4:74118800-74122600	Enhancers	Liver	Liver
23	chr4:74119000-74122400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:74119400-74122400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:74119600-74122400	Weak transcription	NHDF-Ad	bronchial
26	chr4:74119800-74122400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr4:74119800-74122400	Enhancers	Colon Smooth Muscle	Colon
28	chr4:74120000-74122800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr4:74120200-74122400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr4:74120200-74122600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:74120200-74122800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr4:74120600-74122800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr4:74120800-74122400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr4:74120800-74122400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:74120800-74122400	Enhancers	Brain Anterior Caudate	brain
36	chr4:74121000-74122400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr4:74121000-74122800	Enhancers	Brain Cingulate Gyrus	brain
38	chr4:74121000-74122800	Transcr. at gene 5' and 3'	Dnd41	blood
39	chr4:74121200-74122400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr4:74121200-74122400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr4:74121200-74122400	Enhancers	Adipose Nuclei	Adipose
42	chr4:74121200-74122400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr4:74121200-74122600	Enhancers	Primary B cells from cord blood	blood
44	chr4:74121200-74124000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:74121400-74122400	Active TSS	A549	lung
46	chr4:74121600-74122400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr4:74121600-74122400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr4:74121600-74123000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:74121600-74125400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:74121600-74126000	Active TSS	Right Ventricle	heart

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