Variant report

Variant	nsv437385
Chromosome Location	chr4:69204755-69383357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2291)
CpG islands
(count:1648)
Chromatin interactive
region (count:80)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2291 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:69215712-69215831	K562	blood:	n/a	chr4:69215782-69215790
2	ARID3A	chr4:69210304-69210353	K562	blood:	n/a	n/a
3	ARID3A	chr4:69364158-69364549	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:69241809-69241916	K562	blood:	n/a	n/a
5	ARID3A	chr4:69215585-69216036	HepG2	liver:	n/a	chr4:69215782-69215790
6	ARID3A	chr4:69212206-69212462	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:69241724-69242046	HepG2	liver:	n/a	n/a
8	ATF1	chr4:69215620-69216158	K562	blood:	n/a	chr4:69215838-69215852
9	ATF1	chr4:69226955-69227269	K562	blood:	n/a	n/a
10	ATF1	chr4:69212269-69212558	K562	blood:	n/a	n/a
11	ATF2	chr4:69274713-69275097	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr4:69271370-69272360	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr4:69215463-69216132	H1-hESC	embryonic stem cell:	n/a	chr4:69215896-69215907 chr4:69215838-69215852
14	ATF2	chr4:69215452-69216129	GM12878	blood:	n/a	chr4:69215896-69215907 chr4:69215838-69215852
15	ATF2	chr4:69275508-69277104	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr4:69272567-69273233	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr4:69274062-69274402	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr4:69215430-69216233	H1-hESC	embryonic stem cell:	n/a	chr4:69215896-69215907 chr4:69215838-69215852
19	ATF2	chr4:69273374-69273928	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr4:69215580-69216036	GM12878	blood:	n/a	chr4:69215896-69215907 chr4:69215838-69215852
21	ATF2	chr4:69214914-69215381	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr4:69269806-69270384	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr4:69271320-69273979	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr4:69269850-69270608	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr4:69207891-69208159	K562	blood:	n/a	n/a
26	BACH1	chr4:69216585-69216762	K562	blood:	n/a	n/a
27	BACH1	chr4:69316907-69317183	H1-hESC	embryonic stem cell:	n/a	chr4:69317106-69317120
28	BACH1	chr4:69215649-69216046	K562	blood:	n/a	n/a
29	BACH1	chr4:69318318-69318341	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr4:69215560-69216041	H1-hESC	embryonic stem cell:	n/a	n/a
31	BATF	chr4:69364212-69364472	GM12878	blood:	n/a	n/a
32	BATF	chr4:69212238-69212535	GM12878	blood:	n/a	chr4:69212303-69212314 chr4:69212358-69212369
33	BATF	chr4:69212136-69212549	GM12878	blood:	n/a	chr4:69212303-69212314 chr4:69212358-69212369
34	BCL11A	chr4:69275877-69276040	H1-hESC	embryonic stem cell:	n/a	n/a
35	BCL11A	chr4:69233648-69233855	H1-hESC	embryonic stem cell:	n/a	n/a
36	BCL11A	chr4:69273602-69273847	H1-hESC	embryonic stem cell:	n/a	n/a
37	BCL11A	chr4:69233545-69233815	H1-hESC	embryonic stem cell:	n/a	n/a
38	BCL3	chr4:69215396-69216133	A549	lung:	n/a	n/a
39	BCL3	chr4:69215550-69215963	A549	lung:	n/a	n/a
40	BCLAF1	chr4:69215374-69216170	GM12878	blood:	n/a	n/a
41	BCLAF1	chr4:69215363-69216070	GM12878	blood:	n/a	n/a
42	BHLHE40	chr4:69215541-69216054	A549	lung:	n/a	n/a
43	BHLHE40	chr4:69215413-69216189	GM12878	blood:	n/a	n/a
44	BHLHE40	chr4:69205892-69205953	GM12878	blood:	n/a	n/a
45	BHLHE40	chr4:69226735-69227270	HepG2	liver:	n/a	n/a
46	BHLHE40	chr4:69249117-69249120	K562	blood:	n/a	n/a
47	BHLHE40	chr4:69250331-69250703	K562	blood:	n/a	n/a
48	BHLHE40	chr4:69215129-69216171	HepG2	liver:	n/a	n/a
49	BHLHE40	chr4:69226696-69227246	K562	blood:	n/a	n/a
50	BHLHE40	chr4:69241744-69242010	GM12878	blood:	n/a	n/a

(count:1648 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:69212380-69212430	AoSMC	blood vessel:	n/a
2	chr4:69212380-69212430	AoSMC	blood vessel:	n/a
3	chr4:69216077-69216127	SK-N-MC	brain:	n/a
4	chr4:69312104-69312154	HIPEpiC	eye:	n/a
5	chr4:69215753-69215803	MCF-7	breast:	n/a
6	chr4:69215786-69215836	PrEC	prostate:	n/a
7	chr4:69218719-69218769	PrEC	prostate:	n/a
8	chr4:69215909-69215959	NHDF-neo	bronchial:	n/a
9	chr4:69216018-69216068	HNPCEpiC	eye:	n/a
10	chr4:69215305-69215355	HRE	kidney:	n/a
11	chr4:69215265-69215315	Jurkat	blood:	n/a
12	chr4:69239481-69239531	HepG2	liver:	n/a
13	chr4:69340916-69340966	HAEpiC	amniotic membrane:	n/a
14	chr4:69312104-69312154	H1-hESC	embryonic stem cell:	embryo
15	chr4:69212380-69212430	HRE	kidney:	n/a
16	chr4:69215305-69215355	IMR90	lung:	fetal
17	chr4:69216103-69216153	HPAEpiC	pulmonary alveolar:	n/a
18	chr4:69207281-69207331	HCPEpiC	choroid plexus:	n/a
19	chr4:69313197-69313247	HepG2	liver:	n/a
20	chr4:69216103-69216153	K562	blood:	n/a
21	chr4:69218719-69218769	HCT-116	colon:	n/a
22	chr4:69216018-69216068	PANC-1	pancreas:	n/a
23	chr4:69215896-69215946	ProgFib	skin:	n/a
24	chr4:69216103-69216153	HRCEpiC	kidney:	n/a
25	chr4:69215265-69215315	HCPEpiC	choroid plexus:	n/a
26	chr4:69215675-69215725	HRPEpiC	eye:	n/a
27	chr4:69381368-69381418	SK-N-SH_RA	brain:	n/a
28	chr4:69215305-69215355	U87	brain:	n/a
29	chr4:69212380-69212430	SK-N-SH_RA	brain:	n/a
30	chr4:69215753-69215803	Hepatocyte	liver:	n/a
31	chr4:69381368-69381418	MCF10A-Er-Src	breast:	n/a
32	chr4:69216077-69216127	T-47D	breast:	n/a
33	chr4:69215318-69215368	NT2-D1	testis:	n/a
34	chr4:69218719-69218769	HMEC	breast:	n/a
35	chr4:69215753-69215803	NHBE	bronchial:	n/a
36	chr4:69340916-69340966	SK-N-SH	brain:	n/a
37	chr4:69215318-69215368	A549	lung:	n/a
38	chr4:69215675-69215725	AG10803	skin:	n/a
39	chr4:69216077-69216127	NB4	blood:	n/a
40	chr4:69215865-69215915	GM19239	blood:	n/a
41	chr4:69215865-69215915	ProgFib	skin:	n/a
42	chr4:69381368-69381418	HRPEpiC	eye:	n/a
43	chr4:69215896-69215946	HL-60	blood:	n/a
44	chr4:69207281-69207331	ProgFib	skin:	n/a
45	chr4:69381368-69381418	IMR90	lung:	fetal
46	chr4:69312104-69312154	HCT-116	colon:	n/a
47	chr4:69212380-69212430	HCT-116	colon:	n/a
48	chr4:69215675-69215725	HL-60	blood:	n/a
49	chr4:69215912-69215962	AG04450	lung:	fetal
50	chr4:69312104-69312154	SK-N-SH_RA	brain:	n/a

(count:80 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:113031752..113034339-chr4:69209531..69211318,2	MCF-7	breast:
2	chr4:69211043..69213753-chr4:69341284..69343236,2	K562	blood:
3	chr1:173836748..173837377-chr4:69215292..69215827,2	Hela-S3	cervix:
4	chr4:69293251..69295177-chr4:69318009..69319544,2	K562	blood:
5	chr4:69261479..69263949-chr4:69265088..69267687,3	K562	blood:
6	chr4:69215797..69217317-chr4:69361139..69363891,2	MCF-7	breast:
7	chr4:69227116..69229844-chr4:69232808..69235424,3	MCF-7	breast:
8	chr4:69218330..69220312-chr4:69233366..69236029,2	MCF-7	breast:
9	chr4:69213603..69215709-chr4:69245624..69247287,2	K562	blood:
10	chr4:69235222..69236888-chr4:69330787..69333108,2	MCF-7	breast:
11	chr4:69214269..69220088-chr4:69224464..69229346,6	MCF-7	breast:
12	chr4:68794694..68797024-chr4:69366841..69368465,2	MCF-7	breast:
13	chr4:69215315..69216150-chr4:69241399..69242116,2	MCF-7	breast:
14	chr4:69362843..69365661-chr4:69770776..69774163,4	MCF-7	breast:
15	chr4:69177090..69179857-chr4:69251602..69253290,2	MCF-7	breast:
16	chr4:69311298..69314792-chr4:69316366..69319525,5	MCF-7	breast:
17	chr4:69211043..69213753-chr4:69341284..69343236,2	K562	blood:
18	chr4:69188491..69190589-chr4:69207832..69210150,2	K562	blood:
19	chr4:69218952..69221343-chr4:69221565..69223660,2	K562	blood:
20	chr4:69218178..69222853-chr4:69225128..69229971,4	MCF-7	breast:
21	chr4:69330018..69331837-chr4:69335427..69337976,2	MCF-7	breast:
22	chr4:69211727..69213859-chr4:69233011..69234860,2	MCF-7	breast:
23	chr4:69208163..69209683-chr4:69233967..69235522,2	MCF-7	breast:
24	chr4:69225977..69228923-chr4:69232908..69234757,2	MCF-7	breast:
25	chr4:69215623..69217257-chr4:69223391..69225244,2	MCF-7	breast:
26	chr4:69215315..69216150-chr4:69241399..69242116,2	MCF-7	breast:
27	chr4:69235222..69236888-chr4:69330787..69333108,2	MCF-7	breast:
28	chr11:62609142..62609643-chr4:69215081..69215921,2	Hela-S3	cervix:
29	chr4:69212213..69214534-chr4:69225131..69226946,2	MCF-7	breast:
30	chr21:45195495..45196196-chr4:69215418..69216293,2	Hela-S3	cervix:
31	chr19:34663114..34663782-chr4:69227413..69228097,2	HCT-116	colon:
32	chr4:69243264..69245251-chr4:69248916..69251183,2	K562	blood:
33	chr4:69308561..69313812-chr4:69314832..69320961,6	K562	blood:
34	chr4:69218952..69221343-chr4:69221565..69223660,2	K562	blood:
35	chr4:69214293..69217151-chr4:69228471..69232453,4	MCF-7	breast:
36	chr4:69314066..69315762-chr4:69317720..69319307,2	K562	blood:
37	chr4:69218330..69220312-chr4:69233366..69236029,2	MCF-7	breast:
38	chr4:69225977..69228923-chr4:69232908..69234757,2	MCF-7	breast:
39	chr4:69363348..69364328-chr4:69890914..69891634,2	MCF-7	breast:
40	chr4:69212970..69215845-chr4:69239349..69242311,2	MCF-7	breast:
41	chr4:69326187..69328959-chr4:69331153..69333884,3	MCF-7	breast:
42	chr4:69314066..69315762-chr4:69317720..69319307,2	K562	blood:
43	chr4:69212970..69215845-chr4:69239349..69242311,2	MCF-7	breast:
44	chr4:68794156..68795825-chr4:69317354..69319516,2	MCF-7	breast:
45	chr4:69197134..69202591-chr4:69207411..69211710,5	K562	blood:
46	chr4:69201801..69210708-chr4:69210917..69216982,18	MCF-7	breast:
47	chr1:40042036..40042680-chr4:69215224..69215736,2	Hela-S3	cervix:
48	chr4:69317417..69319881-chr4:69327468..69329389,2	MCF-7	breast:
49	chr4:69313083..69315969-chr4:69334821..69336429,2	MCF-7	breast:
50	chr4:69214168..69215842-chr4:69249504..69252039,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2B17-1	chr4:69375159-69375392	NONHSAT096733
2	lnc-UGT2B17-1	chr4:69382627-69383365	NONHSAT096733

No data

Variant related genes	Relation type
TMPRSS11E	TF binding region
MT2P1	TF binding region
YTHDC1	TF binding region
TMPRSS11E	CpG island
MT2P1	CpG island
YTHDC1	CpG island
ENSG00000133316	chromatin interactions
ENSG00000162840	chromatin interactions
ENSG00000160213	chromatin interactions
ENSG00000090621	chromatin interactions
ENSG00000083896	chromatin interactions
ENSG00000083312	chromatin interactions
ENSG00000185278	chromatin interactions
ENSG00000117450	chromatin interactions
ENSG00000087128	chromatin interactions
ENSG00000234741	chromatin interactions
ENSG00000249985	chromatin interactions
ENSG00000257103	chromatin interactions
ENSG00000188177	chromatin interactions
ENSG00000272626	chromatin interactions

Extended variants
information (count: 6618 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:6618 , 50 per page) page: 1 2 3 4 5 6 7 ... 133

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6552179	chr4:69204755-69204756	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113178611	chr4:69204760-69204761	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538320203	chr4:69204762-69204763	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs374404054	chr4:69204798-69204799	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533250697	chr4:69204800-69204801	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374001266	chr4:69204802-69204803	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571322106	chr4:69204827-69204828	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185729087	chr4:69204842-69204843	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs150251725	chr4:69204872-69204873	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs573874887	chr4:69204889-69204890	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536179225	chr4:69204914-69204915	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368466697	chr4:69204968-69204969	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555721742	chr4:69205059-69205060	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs79679806	chr4:69205060-69205061	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs144938038	chr4:69205071-69205072	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs140944363	chr4:69205102-69205103	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs578079293	chr4:69205104-69205105	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs540823062	chr4:69205120-69205121	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs144604061	chr4:69205125-69205126	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs9996833	chr4:69205148-69205149	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs549960829	chr4:69205154-69205155	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563814674	chr4:69205163-69205164	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs138505343	chr4:69205186-69205187	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs141544469	chr4:69205201-69205202	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562843280	chr4:69205216-69205217	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs529238360	chr4:69205231-69205232	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs72651911	chr4:69205321-69205322	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200018207	chr4:69205322-69205323	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs201087091	chr4:69205323-69205324	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs111803188	chr4:69205325-69205326	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs371672495	chr4:69205338-69205339	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs3035585	chr4:69205342-69205343	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs200438921	chr4:69205343-69205344	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs201294968	chr4:69205344-69205345	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs202199660	chr4:69205345-69205346	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs551545316	chr4:69205347-69205348	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs571719934	chr4:69205363-69205364	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs534078159	chr4:69205392-69205393	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs547559052	chr4:69205393-69205394	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs567154923	chr4:69205410-69205411	Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs536117514	chr4:69205416-69205417	Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs556060431	chr4:69205421-69205422	Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs143586676	chr4:69205424-69205425	Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs200471519	chr4:69205472-69205473	Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs575597244	chr4:69205543-69205544	Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538255222	chr4:69205553-69205554	Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558320701	chr4:69205577-69205578	Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs572099518	chr4:69205644-69205645	Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs371000401	chr4:69205699-69205700	Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs554321512	chr4:69205725-69205726	Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Lung cancer	18438408	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
Multiple myeloma	16616336	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
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Alcoholism	21790672	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	21865298	CNVD
Breast cancer	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:2284 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69178000-69205000	Strong transcription	Dnd41	blood
2	chr4:69182600-69213200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:69182800-69207200	Weak transcription	Small Intestine	intestine
4	chr4:69182800-69209200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:69183000-69207800	Weak transcription	Esophagus	oesophagus
6	chr4:69184200-69207800	Weak transcription	Spleen	Spleen
7	chr4:69184200-69212200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:69184200-69212800	Weak transcription	Aorta	Aorta
9	chr4:69185400-69204800	Weak transcription	Stomach Mucosa	stomach
10	chr4:69189200-69214400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:69194800-69207800	Weak transcription	Hela-S3	cervix
12	chr4:69195800-69207800	Weak transcription	Psoas Muscle	Psoas
13	chr4:69198600-69212800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:69199000-69213800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:69200400-69206600	Weak transcription	Primary B cells from cord blood	blood
16	chr4:69200600-69204800	Weak transcription	Fetal Intestine Small	intestine
17	chr4:69202400-69213000	Weak transcription	Fetal Stomach	stomach
18	chr4:69202600-69204800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:69203000-69213400	Weak transcription	Colonic Mucosa	Colon
20	chr4:69203200-69205000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:69203200-69207400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:69203200-69207600	Weak transcription	K562	blood
23	chr4:69203200-69207800	Weak transcription	Ovary	ovary
24	chr4:69203200-69208000	Weak transcription	NHLF	lung
25	chr4:69203200-69211600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:69203400-69204800	Weak transcription	Brain Anterior Caudate	brain
27	chr4:69203400-69204800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:69203400-69205200	Weak transcription	Fetal Lung	lung
29	chr4:69203400-69205200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:69203400-69205800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:69203400-69205800	Weak transcription	HUVEC	blood vessel
32	chr4:69203400-69206000	Enhancers	Brain Angular Gyrus	brain
33	chr4:69203400-69207200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:69203400-69207600	Weak transcription	Fetal Brain Male	brain
35	chr4:69203400-69210400	Weak transcription	Lung	lung
36	chr4:69203400-69212000	Weak transcription	HSMMtube	muscle
37	chr4:69203400-69212200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:69203400-69213000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:69203600-69204800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:69203600-69205000	Weak transcription	Primary T cells from cord blood	blood
41	chr4:69203600-69205000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:69203600-69205400	Weak transcription	Fetal Intestine Large	intestine
43	chr4:69203600-69206000	Weak transcription	A549	lung
44	chr4:69203600-69206800	Weak transcription	HSMM	muscle
45	chr4:69203600-69207000	Weak transcription	GM12878-XiMat	blood
46	chr4:69203600-69207200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:69203600-69207200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:69203600-69207200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr4:69203600-69207200	Weak transcription	HepG2	liver
50	chr4:69203600-69207600	Weak transcription	NH-A	brain

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