Variant report

Variant	esv3412985
Chromosome Location	chr4:74123113-74125961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1136)
CpG islands
(count:430)
Chromatin interactive
region (count:31)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1136 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:74122868-74123297	K562	blood:	n/a	n/a
2	ARID3A	chr4:74124481-74125312	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:74122867-74123866	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:74124747-74125476	K562	blood:	n/a	n/a
5	ATF1	chr4:74124552-74125611	K562	blood:	n/a	n/a
6	ATF2	chr4:74124639-74125152	GM12878	blood:	n/a	n/a
7	ATF2	chr4:74124628-74125058	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr4:74124324-74125539	GM12878	blood:	n/a	n/a
9	ATF2	chr4:74124551-74125311	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr4:74124792-74125006	GM12878	blood:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
11	ATF3	chr4:74124704-74125117	K562	blood:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
12	ATF3	chr4:74124647-74125106	H1-hESC	embryonic stem cell:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
13	ATF3	chr4:74122990-74123169	GM12878	blood:	n/a	n/a
14	ATF3	chr4:74124659-74125022	K562	blood:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
15	ATF3	chr4:74124694-74125030	H1-hESC	embryonic stem cell:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
16	ATF3	chr4:74124629-74125209	GM12878	blood:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
17	ATF3	chr4:74124713-74125028	HepG2	liver:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
18	ATF3	chr4:74124625-74125063	K562	blood:	n/a	chr4:74124886-74124906 chr4:74124883-74124896
19	BACH1	chr4:74123727-74123927	K562	blood:	n/a	n/a
20	BACH1	chr4:74124713-74124895	K562	blood:	n/a	n/a
21	BACH1	chr4:74124307-74124446	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr4:74124758-74125057	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL3	chr4:74124550-74124949	A549	lung:	n/a	chr4:74124874-74124883
24	BCL3	chr4:74124576-74125148	A549	lung:	n/a	chr4:74124874-74124883
25	BCL3	chr4:74124779-74124984	GM12878	blood:	n/a	chr4:74124874-74124883
26	BCL3	chr4:74124694-74125121	GM12878	blood:	n/a	chr4:74124874-74124883
27	BCLAF1	chr4:74124554-74125191	K562	blood:	n/a	chr4:74124874-74124883
28	BCLAF1	chr4:74124540-74125487	GM12878	blood:	n/a	chr4:74124874-74124883
29	BCLAF1	chr4:74122811-74123298	GM12878	blood:	n/a	n/a
30	BCLAF1	chr4:74124494-74125417	GM12878	blood:	n/a	chr4:74124874-74124883
31	BHLHE40	chr4:74124120-74125890	GM12878	blood:	n/a	n/a
32	BHLHE40	chr4:74122871-74123860	GM12878	blood:	n/a	n/a
33	BHLHE40	chr4:74122988-74125302	HepG2	liver:	n/a	n/a
34	BHLHE40	chr4:74122954-74125504	K562	blood:	n/a	n/a
35	BRCA1	chr4:74123838-74125599	Hela-S3	cervix:	n/a	chr4:74124555-74124564
36	BRCA1	chr4:74124277-74125049	HepG2	liver:	n/a	chr4:74124555-74124564
37	BRCA1	chr4:74124449-74125081	H1-hESC	embryonic stem cell:	n/a	chr4:74124555-74124564
38	BRCA1	chr4:74124199-74124921	GM12878	blood:	n/a	chr4:74124555-74124564
39	CBX3	chr4:74124542-74125089	K562	blood:	n/a	n/a
40	CBX3	chr4:74124732-74125001	K562	blood:	n/a	n/a
41	CBX3	chr4:74123634-74124118	K562	blood:	n/a	n/a
42	CCNT2	chr4:74122953-74123185	K562	blood:	n/a	n/a
43	CCNT2	chr4:74123963-74125179	K562	blood:	n/a	chr4:74124413-74124422
44	CEBPB	chr4:74124786-74125076	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr4:74122908-74123567	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr4:74122959-74123592	HepG2	liver:	n/a	n/a
47	CEBPB	chr4:74124783-74125017	K562	blood:	n/a	n/a
48	CEBPB	chr4:74122816-74123376	A549	lung:	n/a	n/a
49	CEBPB	chr4:74124729-74125085	IMR90	lung:	n/a	n/a
50	CEBPB	chr4:74124527-74125420	GM12878	blood:	n/a	n/a

(count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:74124971-74125021	HUVEC	blood vessel:	n/a
2	chr4:74124464-74124514	SKMC	muscle:	n/a
3	chr4:74124058-74124108	SK-N-MC	brain:	n/a
4	chr4:74124971-74125021	HUVEC	blood vessel:	n/a
5	chr4:74124464-74124514	SKMC	muscle:	n/a
6	chr4:74124058-74124108	SK-N-MC	brain:	n/a
7	chr4:74124772-74124822	PrEC	prostate:	n/a
8	chr4:74124772-74124822	HPAEpiC	pulmonary alveolar:	n/a
9	chr4:74124502-74124552	PANC-1	pancreas:	n/a
10	chr4:74124772-74124822	NT2-D1	testis:	n/a
11	chr4:74124864-74124914	Hela-S3	cervix:	n/a
12	chr4:74124864-74124914	HNPCEpiC	eye:	n/a
13	chr4:74124502-74124552	SK-N-SH	brain:	n/a
14	chr4:74125882-74125932	Jurkat	blood:	n/a
15	chr4:74124464-74124514	HCPEpiC	choroid plexus:	n/a
16	chr4:74124772-74124822	GM12891	blood:	n/a
17	chr4:74124971-74125021	NT2-D1	testis:	n/a
18	chr4:74124971-74125021	BJ	skin:	n/a
19	chr4:74125882-74125932	AoSMC	blood vessel:	n/a
20	chr4:74125882-74125932	SK-N-MC	brain:	n/a
21	chr4:74124971-74125021	IMR90	lung:	fetal
22	chr4:74124971-74125021	HRPEpiC	eye:	n/a
23	chr4:74124971-74125021	SK-N-MC	brain:	n/a
24	chr4:74124772-74124822	K562	blood:	n/a
25	chr4:74124058-74124108	HMEC	breast:	n/a
26	chr4:74124864-74124914	HL-60	blood:	n/a
27	chr4:74124502-74124552	HCT-116	colon:	n/a
28	chr4:74124502-74124552	NH-A	brain:	n/a
29	chr4:74124772-74124822	ProgFib	skin:	n/a
30	chr4:74124058-74124108	HIPEpiC	eye:	n/a
31	chr4:74124464-74124514	GM12878	blood:	n/a
32	chr4:74124464-74124514	HNPCEpiC	eye:	n/a
33	chr4:74124058-74124108	IMR90	lung:	fetal
34	chr4:74124772-74124822	Hepatocyte	liver:	n/a
35	chr4:74124502-74124552	AG04450	lung:	fetal
36	chr4:74125882-74125932	NH-A	brain:	n/a
37	chr4:74124971-74125021	HPAEpiC	pulmonary alveolar:	n/a
38	chr4:74124058-74124108	K562	blood:	n/a
39	chr4:74124502-74124552	BE2_C	brain:	n/a
40	chr4:74124772-74124822	SK-N-MC	brain:	n/a
41	chr4:74124971-74125021	HNPCEpiC	eye:	n/a
42	chr4:74124058-74124108	GM19239	blood:	n/a
43	chr4:74124864-74124914	K562	blood:	n/a
44	chr4:74125882-74125932	AG09319	gingival:	n/a
45	chr4:74124464-74124514	AoSMC	blood vessel:	n/a
46	chr4:74124464-74124514	HAEpiC	amniotic membrane:	n/a
47	chr4:74124464-74124514	MCF-7	breast:	n/a
48	chr4:74124971-74125021	RPTEC	kidney:	n/a
49	chr4:74124464-74124514	MCF10A-Er-Src	breast:	n/a
50	chr4:74124502-74124552	GM12892	blood:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:62653264..62653975-chr4:74124745..74125258,2	Hela-S3	cervix:
2	chr2:20646726..20647344-chr4:74124211..74124885,2	Hela-S3	cervix:
3	chr4:73992225..73994426-chr4:74125151..74126753,2	MCF-7	breast:
4	chr12:69753396..69754056-chr4:74124292..74124862,2	Hela-S3	cervix:
5	chr4:73967876..73970558-chr4:74123013..74124947,2	MCF-7	breast:
6	chr4:73932730..73938383-chr4:74120374..74126369,19	MCF-7	breast:
7	chr4:74124620..74125164-chr8:33370566..33371199,2	Hela-S3	cervix:
8	chr4:74122515..74124717-chr4:75023066..75024638,2	K562	blood:
9	chr4:73968348..73971622-chr4:74123384..74126959,3	MCF-7	breast:
10	chr4:74087106..74090351-chr4:74123421..74126445,9	K562	blood:
11	chr4:74124568..74125245-chr6:27114804..27115408,2	Hela-S3	cervix:
12	chr17:7387578..7388352-chr4:74123868..74124804,2	HCT-116	colon:
13	chr4:73933853..73938156-chr4:74122325..74126609,11	MCF-7	breast:
14	chr17:42147473..42148416-chr4:74124403..74125344,2	HCT-116	colon:
15	chr4:73992240..73994706-chr4:74121884..74123760,2	MCF-7	breast:
16	chr17:79823864..79825760-chr4:74123183..74125503,2	MCF-7	breast:
17	chr1:144533847..144534452-chr4:74124444..74125286,2	Hela-S3	cervix:
18	chr4:74123460..74124971-chr6:27773658..27776230,2	MCF-7	breast:
19	chr4:74086715..74092062-chr4:74122892..74125871,6	MCF-7	breast:
20	chr4:74124231..74124959-chr7:121036035..121036652,2	HCT-116	colon:
21	chr4:73944384..73947318-chr4:74125814..74128243,2	MCF-7	breast:
22	chr4:74122758..74124743-chr4:74269712..74272494,2	K562	blood:
23	chr4:74124745..74125372-chr4:83821363..83821919,2	Hela-S3	cervix:
24	chr4:73935119..73935893-chr4:74123941..74124455,2	Hela-S3	cervix:
25	chr4:73932413..73938405-chr4:74120693..74126649,20	K562	blood:
26	chr4:74124228..74125076-chr8:42128745..42129368,2	NB4	blood:
27	chr4:74018332..74023301-chr4:74122420..74126136,8	MCF-7	breast:
28	chr4:74123296..74125010-chr4:74605307..74607860,2	K562	blood:
29	chr4:73929823..73938112-chr4:74120693..74129342,27	K562	blood:
30	chr4:74086092..74089125-chr4:74123157..74126277,4	MCF-7	breast:
31	chr4:74124866..74125788-chr7:2393646..2394152,2	NB4	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALB-1	chr4:74124504-74130555	NONHSAT096836
2	lnc-ALB-1	chr4:74124926-74125125	ENSG00000250220.1

No data

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

Extended variants
information (count: 90 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	rs569237927	chr4:74124111-74124112	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
32	rs536663849	chr4:74124144-74124145	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
33	rs368818756	chr4:74124147-74124148	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
34	rs372558601	chr4:74124154-74124155	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
35	rs377570971	chr4:74124164-74124165	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
36	rs367776945	chr4:74124172-74124173	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
37	rs148908301	chr4:74124173-74124174	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
38	rs143582632	chr4:74124219-74124220	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs548675115	chr4:74124246-74124247	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
40	rs139342353	chr4:74124302-74124303	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs566882911	chr4:74124399-74124400	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs534384983	chr4:74124428-74124429	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs370786613	chr4:74124435-74124436	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
44	rs571117727	chr4:74124477-74124478	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
45	rs565536458	chr4:74124502-74124503	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs538099521	chr4:74124529-74124530	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
47	rs534443561	chr4:74124587-74124588	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
48	rs376971680	chr4:74124588-74124589	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
49	rs556448285	chr4:74124611-74124612	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
50	rs574059644	chr4:74124630-74124631	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74087800-74123400	Weak transcription	Gastric	stomach
2	chr4:74112400-74123200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:74116400-74123400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:74121200-74124000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:74121600-74125400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:74121600-74126000	Active TSS	Right Ventricle	heart
7	chr4:74121800-74123600	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr4:74121800-74123800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:74122000-74124000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:74122000-74124000	Active TSS	Right Atrium	heart
11	chr4:74122000-74125600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:74122000-74125800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr4:74122000-74125800	Active TSS	Stomach Smooth Muscle	stomach
14	chr4:74122000-74126200	Active TSS	Aorta	Aorta
15	chr4:74122200-74123600	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr4:74122200-74123800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:74122200-74124000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr4:74122200-74125200	Active TSS	Brain Angular Gyrus	brain
19	chr4:74122200-74125800	Active TSS	HMEC	breast
20	chr4:74122200-74126200	Active TSS	Psoas Muscle	Psoas
21	chr4:74122200-74126400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:74122200-74126400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:74122400-74123200	Enhancers	Stomach Mucosa	stomach
24	chr4:74122400-74123600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr4:74122400-74123600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr4:74122400-74123600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr4:74122400-74123800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:74122400-74123800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr4:74122400-74124000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr4:74122400-74125600	Active TSS	H1 Cell Line	embryonic stem cell
31	chr4:74122400-74125600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:74122400-74125800	Active TSS	Fetal Intestine Small	intestine
33	chr4:74122400-74125800	Active TSS	Ovary	ovary
34	chr4:74122400-74126000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:74122400-74126000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:74122400-74126000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:74122400-74126000	Active TSS	Colonic Mucosa	Colon
38	chr4:74122400-74126200	Active TSS	NHLF	lung
39	chr4:74122400-74126600	Active TSS	GM12878-XiMat	blood
40	chr4:74122600-74123800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:74122600-74124000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:74122600-74124200	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr4:74122600-74125400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr4:74122600-74125400	Active TSS	Thymus	Thymus
45	chr4:74122600-74125800	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr4:74122600-74125800	Active TSS	Fetal Muscle Leg	muscle
47	chr4:74122600-74125800	Active TSS	Fetal Thymus	thymus
48	chr4:74122600-74125800	Active TSS	A549	lung
49	chr4:74122600-74125800	Active TSS	HSMMtube	muscle
50	chr4:74122600-74125800	Active TSS	NHDF-Ad	bronchial

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