Variant report

Variant	esv3358167
Chromosome Location	chr4:677602-680100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:677805-678057	HepG2	liver:	n/a	n/a
2	BACH1	chr4:677579-677605	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr4:677905-678052	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr4:679340-679623	GM12878	blood:	n/a	chr4:679502-679511
5	BHLHE40	chr4:677733-678055	K562	blood:	n/a	n/a
6	BHLHE40	chr4:678828-679130	HepG2	liver:	n/a	n/a
7	BHLHE40	chr4:677831-678024	GM12878	blood:	n/a	n/a
8	BRCA1	chr4:677796-678141	HepG2	liver:	n/a	n/a
9	BRCA1	chr4:677808-678015	H1-hESC	embryonic stem cell:	n/a	n/a
10	BRCA1	chr4:679913-679976	HepG2	liver:	n/a	n/a
11	CBX3	chr4:677719-678102	K562	blood:	n/a	n/a
12	CBX3	chr4:677812-677988	K562	blood:	n/a	n/a
13	CCNT2	chr4:677960-678084	K562	blood:	n/a	chr4:677965-677974 chr4:678064-678073
14	CCNT2	chr4:678664-678750	K562	blood:	n/a	n/a
15	CEBPD	chr4:677793-678018	HepG2	liver:	n/a	n/a
16	CHD2	chr4:677896-677956	GM12878	blood:	n/a	n/a
17	CHD2	chr4:678001-678166	K562	blood:	n/a	n/a
18	CHD2	chr4:677789-678114	HepG2	liver:	n/a	n/a
19	CHD2	chr4:677781-678166	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr4:678324-678354	HepG2	liver:	n/a	n/a
21	CHD2	chr4:679015-679028	HepG2	liver:	n/a	n/a
22	CREB1	chr4:677705-678126	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr4:677822-678092	A549	lung:	n/a	n/a
24	CTCF	chr4:677800-677950	Hela-S3	cervix:	n/a	chr4:677933-677949 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
25	CTCF	chr4:677840-677990	K562	blood:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
26	CTCF	chr4:677824-678061	HepG2	liver:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
27	CTCF	chr4:677794-678105	K562	blood:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
28	CTCF	chr4:677649-677695	GM13977	blood:	n/a	n/a
29	CTCF	chr4:677860-678010	HCT-116	colon:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
30	CTCF	chr4:677840-678077	Lung_OC	lung:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
31	CTCF	chr4:677840-677990	GM12866	blood:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
32	CTCF	chr4:677860-678010	GM12873	blood:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
33	CTCF	chr4:677820-677970	HCM	heart:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
34	CTCF	chr4:677835-678026	Kidney_OC	kidney:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
35	CTCF	chr4:677880-678030	SAEC	small airway:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
36	CTCF	chr4:677880-678030	AG09309	skin:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
37	CTCF	chr4:677545-678306	A549	lung:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948 chr4:678194-678207
38	CTCF	chr4:677860-678010	HUVEC	blood vessel:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
39	CTCF	chr4:677860-678010	HBMEC	blood vessel:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
40	CTCF	chr4:677860-678010	AG04450	lung:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
41	CTCF	chr4:677727-678181	K562	blood:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
42	CTCF	chr4:677805-678053	GM13976	blood:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
43	CTCF	chr4:678186-678188	GM19239	blood:	n/a	n/a
44	CTCF	chr4:677840-677990	GM06990	blood:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
45	CTCF	chr4:677814-678047	HepG2	liver:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
46	CTCF	chr4:677820-677970	HFF-Myc	foreskin:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
47	CTCF	chr4:677840-677990	HEEpiC	esophagus:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
48	CTCF	chr4:677900-678050	GM12864	blood:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
49	CTCF	chr4:677835-678014	SK-N-SH_RA	brain:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948
50	CTCF	chr4:677880-678030	Hela-S3	cervix:	n/a	chr4:677933-677949 chr4:677934-677955 chr4:677935-677948 chr4:677932-677950 chr4:677935-677948

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:678615-678665	AG04450	lung:	fetal
2	chr4:678615-678665	AG09319	gingival:	n/a
3	chr4:679751-679801	HAEpiC	amniotic membrane:	n/a
4	chr4:678615-678665	HPAEpiC	pulmonary alveolar:	n/a
5	chr4:679751-679801	ProgFib	skin:	n/a
6	chr4:679751-679801	NB4	blood:	n/a
7	chr4:678615-678665	GM12891	blood:	n/a
8	chr4:678615-678665	AG04449	skin:	fetal
9	chr4:679526-679576	AG09319	gingival:	n/a
10	chr4:679751-679801	HRCEpiC	kidney:	n/a
11	chr4:679751-679801	GM19239	blood:	n/a
12	chr4:679751-679801	GM12891	blood:	n/a
13	chr4:679907-679957	AG09319	gingival:	n/a
14	chr4:678615-678665	HUVEC	blood vessel:	n/a
15	chr4:679907-679957	MCF-7	breast:	n/a
16	chr4:679751-679801	SK-N-SH	brain:	n/a
17	chr4:679907-679957	IMR90	lung:	fetal
18	chr4:679907-679957	NHDF-neo	bronchial:	n/a
19	chr4:679526-679576	GM19239	blood:	n/a
20	chr4:679907-679957	AG09309	skin:	n/a
21	chr4:679526-679576	SK-N-MC	brain:	n/a
22	chr4:679526-679576	H1-hESC	embryonic stem cell:	embryo
23	chr4:679751-679801	MCF10A-Er-Src	breast:	n/a
24	chr4:679751-679801	Caco-2	colon:	n/a
25	chr4:679526-679576	PrEC	prostate:	n/a
26	chr4:679907-679957	Caco-2	colon:	n/a
27	chr4:679907-679957	CMK	blood:	n/a
28	chr4:678615-678665	HepG2	liver:	n/a
29	chr4:679751-679801	IMR90	lung:	fetal
30	chr4:679526-679576	HCM	heart:	n/a
31	chr4:679907-679957	SK-N-MC	brain:	n/a
32	chr4:679526-679576	GM12878	blood:	n/a
33	chr4:679907-679957	MCF10A-Er-Src	breast:	n/a
34	chr4:678615-678665	GM06990	blood:	n/a
35	chr4:679751-679801	SK-N-SH_RA	brain:	n/a
36	chr4:679751-679801	AG09319	gingival:	n/a
37	chr4:679751-679801	HRE	kidney:	n/a
38	chr4:679526-679576	HAEpiC	amniotic membrane:	n/a
39	chr4:679751-679801	SK-N-MC	brain:	n/a
40	chr4:678615-678665	HCM	heart:	n/a
41	chr4:679526-679576	HCF	heart:	n/a
42	chr4:678615-678665	MCF10A-Er-Src	breast:	n/a
43	chr4:679526-679576	IMR90	lung:	fetal
44	chr4:678615-678665	PANC-1	pancreas:	n/a
45	chr4:678615-678665	NHBE	bronchial:	n/a
46	chr4:679751-679801	NT2-D1	testis:	n/a
47	chr4:679526-679576	AG04450	lung:	fetal
48	chr4:679751-679801	HNPCEpiC	eye:	n/a
49	chr4:679526-679576	HRPEpiC	eye:	n/a
50	chr4:679751-679801	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:595977..599927-chr4:674651..678190,4	MCF-7	breast:
2	chr4:679478..681319-chr4:699446..701129,2	K562	blood:
3	chr4:676118..678375-chr4:722491..724316,2	K562	blood:
4	chr4:678244..681266-chr4:735203..738855,3	MCF-7	breast:
5	chr4:675536..678279-chr4:719522..721602,2	K562	blood:
6	chr4:514891..517080-chr4:677730..679355,2	MCF-7	breast:
7	chr4:677478..678415-chr4:694566..695363,2	MCF-7	breast:
8	chr4:665676..669905-chr4:679525..682855,5	K562	blood:
9	chr4:679737..681440-chr4:774148..776582,2	K562	blood:
10	chr4:679728..681770-chr4:1339441..1342302,2	K562	blood:
11	chr4:676665..678660-chr4:1340906..1343880,2	MCF-7	breast:

Variant related genes	Relation type
MFSD7	TF binding region
MFSD7	CpG island
ENSG00000163945	chromatin interactions
ENSG00000174227	chromatin interactions
ENSG00000185619	chromatin interactions
ENSG00000215375	chromatin interactions
ENSG00000249592	chromatin interactions
ENSG00000169020	chromatin interactions

Extended variants
information (count: 184 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369486914	chr4:677611-677612	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567663127	chr4:677619-677620	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140050656	chr4:677621-677622	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562697934	chr4:677659-677660	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374311200	chr4:677663-677664	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541799260	chr4:677731-677732	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs4518182	chr4:677747-677748	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs527239309	chr4:677768-677769	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs545800190	chr4:677785-677786	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs189850969	chr4:677796-677797	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528486955	chr4:677809-677810	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs116420612	chr4:677812-677813	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550759387	chr4:677830-677831	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569151327	chr4:677838-677839	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs375624247	chr4:677845-677846	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs112783661	chr4:677888-677889	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs548554024	chr4:677894-677895	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs569040654	chr4:677895-677896	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs567178162	chr4:677897-677898	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs529013110	chr4:677918-677919	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs559025136	chr4:677925-677926	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs551580746	chr4:677967-677968	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs570932769	chr4:677971-677972	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538387263	chr4:677983-677984	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs556383475	chr4:678014-678015	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574506613	chr4:678034-678035	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs542009160	chr4:678035-678036	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs142277150	chr4:678051-678052	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs369185760	chr4:678052-678053	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs183972439	chr4:678100-678101	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs545373838	chr4:678109-678110	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs113587297	chr4:678110-678111	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs531298156	chr4:678132-678133	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs543076738	chr4:678150-678151	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs561826499	chr4:678151-678152	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs117784957	chr4:678158-678159	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs548777261	chr4:678164-678165	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs567035125	chr4:678184-678185	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs528014726	chr4:678189-678190	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs552599958	chr4:678203-678204	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs570897914	chr4:678205-678206	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs397879459	chr4:678225-678226	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs375262576	chr4:678228-678229	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs201367279	chr4:678229-678230	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs371534407	chr4:678245-678246	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs374625368	chr4:678262-678263	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs201056671	chr4:678283-678284	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs144201570	chr4:678295-678296	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs148723447	chr4:678302-678303	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs553961216	chr4:678312-678313	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:674200-678200	Enhancers	Esophagus	oesophagus
2	chr4:675000-680800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:675200-678000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr4:675200-678000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:675200-678400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:675200-678800	Enhancers	Placenta	Placenta
7	chr4:675200-680400	Weak transcription	NHDF-Ad	bronchial
8	chr4:675200-680600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:675200-680600	Weak transcription	NH-A	brain
10	chr4:675200-680800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:675200-680800	Weak transcription	NHLF	lung
12	chr4:675200-682200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:675200-682400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:675200-682600	Weak transcription	GM12878-XiMat	blood
15	chr4:675400-677800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:675400-678000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:675400-680600	Weak transcription	Osteobl	bone
18	chr4:675400-680800	Weak transcription	Primary B cells from cord blood	blood
19	chr4:675400-681600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:675400-681800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:675400-682400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:675800-678000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr4:675800-678000	Enhancers	Dnd41	blood
24	chr4:675800-679000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:675800-681600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:676000-678000	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:676000-678400	Enhancers	Fetal Intestine Large	intestine
28	chr4:676000-682000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:676200-680800	Weak transcription	HMEC	breast
30	chr4:676400-677800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr4:676400-678000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:676400-678000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr4:676400-678200	Enhancers	Colonic Mucosa	Colon
34	chr4:676400-678200	Genic enhancers	Gastric	stomach
35	chr4:676400-679000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:676600-678200	Enhancers	Fetal Thymus	thymus
37	chr4:676600-678200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr4:676800-678200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr4:676800-678200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr4:676800-678200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr4:676800-678400	Enhancers	Fetal Heart	heart
42	chr4:676800-678600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr4:676800-680400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:677000-677800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:677000-677800	Enhancers	Lung	lung
46	chr4:677000-678000	Enhancers	Adipose Nuclei	Adipose
47	chr4:677000-678200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:677000-678400	Enhancers	Brain Substantia Nigra	brain
49	chr4:677000-678400	Enhancers	Duodenum Mucosa	Duodenum
50	chr4:677000-678600	Flanking Active TSS	HepG2	liver

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