Variant report

Variant	rs960760
Chromosome Location	chr4:187647136-187647137
allele	G/T
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	CTCF	chr4:187647080-187647230	HepG2	liver:	n/a	chr4:187647166-187647174
2	CTCF	chr4:187647120-187647270	A549	lung:	n/a	chr4:187647166-187647174
3	JUND	chr4:187647077-187647301	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr4:187647100-187647250	HPAF	blood vessel:	n/a	chr4:187647166-187647174
5	YY1	chr4:187646997-187647411	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr4:187647039-187647311	LNCaP	prostate:	n/a	chr4:187647166-187647174
7	CTCF	chr4:187647100-187647250	HAc	cerebellar:	n/a	chr4:187647166-187647174
8	RAD21	chr4:187646565-187647485	H1-hESC	embryonic stem cell:	n/a	chr4:187647166-187647175
9	SMC3	chr4:187646605-187647882	HepG2	liver:	n/a	n/a
10	RAD21	chr4:187647048-187647283	K562	blood:	n/a	chr4:187647166-187647175
11	POLR2A	chr4:187646552-187648394	H1-neurons	neurons:	n/a	n/a
12	CTCF	chr4:187647005-187647389	K562	blood:	n/a	chr4:187647166-187647174
13	RAD21	chr4:187646859-187647602	MCF-7	breast:	n/a	chr4:187647166-187647175
14	CTCF	chr4:187647064-187647299	Medullo	brain:	n/a	chr4:187647166-187647174
15	CTCF	chr4:187647058-187647277	MCF-7	breast:	n/a	chr4:187647166-187647174
16	BRCA1	chr4:187646945-187647573	Hela-S3	cervix:	n/a	n/a
17	E2F4	chr4:187647020-187648166	MCF10A-Er-Src	breast:	n/a	chr4:187647897-187647906
18	POLR2A	chr4:187646874-187647489	ECC-1	luminal epithelium:	n/a	n/a
19	CTCF	chr4:187647120-187647270	HFF	foreskin:	n/a	chr4:187647166-187647174
20	MBD4	chr4:187646934-187647439	HepG2	liver:	n/a	n/a
21	CTCF	chr4:187647100-187647250	HCFaa	heart:	n/a	chr4:187647166-187647174
22	CTCF	chr4:187647080-187647230	WERI-Rb-1	eye:	n/a	chr4:187647166-187647174
23	MAZ	chr4:187647004-187647428	K562	blood:	n/a	chr4:187647083-187647092
24	SP1	chr4:187646881-187647409	A549	lung:	n/a	chr4:187646940-187646954
25	CTCF	chr4:187647100-187647250	AoAF	blood vessel:	n/a	chr4:187647166-187647174
26	RAD21	chr4:187646933-187647431	HepG2	liver:	n/a	chr4:187647166-187647175
27	CTCF	chr4:187647100-187647250	NHEK	skin:	n/a	chr4:187647166-187647174
28	POLR2A	chr4:187646605-187648359	PANC-1	pancreas:	n/a	n/a
29	EP300	chr4:187646801-187648319	ECC-1	luminal epithelium:	n/a	chr4:187647825-187647834 chr4:187647826-187647842 chr4:187647825-187647841
30	FOSL1	chr4:187646504-187650649	HCT-116	colon:	n/a	chr4:187650124-187650134 chr4:187650307-187650319 chr4:187650124-187650134 chr4:187650409-187650420 chr4:187647502-187647510 chr4:187650309-187650317 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650125-187650133
31	YY1	chr4:187646884-187647374	HepG2	liver:	n/a	n/a
32	MXI1	chr4:187646970-187648599	HepG2	liver:	n/a	n/a
33	SIN3A	chr4:187644153-187648976	H1-hESC	embryonic stem cell:	n/a	chr4:187648401-187648409 chr4:187648118-187648127 chr4:187644515-187644528 chr4:187647949-187647960 chr4:187647374-187647383 chr4:187644608-187644619 chr4:187645278-187645291 chr4:187644387-187644398
34	CTCF	chr4:187647060-187647210	HFF-Myc	foreskin:	n/a	chr4:187647166-187647174
35	CTCF	chr4:187647120-187647270	AG09319	gingival:	n/a	chr4:187647166-187647174
36	ZNF143	chr4:187646591-187648185	H1-hESC	embryonic stem cell:	n/a	chr4:187648074-187648092 chr4:187648084-187648094 chr4:187647881-187647899
37	CTCF	chr4:187647080-187647230	BE2_C	brain:	n/a	chr4:187647166-187647174
38	CTCF	chr4:187647120-187647270	BE2_C	brain:	n/a	chr4:187647166-187647174
39	POLR2A	chr4:187646703-187648322	ProgFib	skin:	n/a	n/a
40	CTCF	chr4:187647040-187647190	GM12868	blood:	n/a	chr4:187647166-187647174
41	GTF2F1	chr4:187647126-187647194	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr4:187647014-187647318	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr4:187647100-187647250	RPTEC	kidney:	n/a	chr4:187647166-187647174
44	CTCF	chr4:187647120-187647270	HCPEpiC	choroid plexus:	n/a	chr4:187647166-187647174
45	CHD2	chr4:187646956-187647374	HepG2	liver:	n/a	n/a
46	CTCF	chr4:187647027-187647313	Pancreas_OC	pancreas:	n/a	chr4:187647166-187647174
47	CTCF	chr4:187647100-187647250	NHLF	lung:	n/a	chr4:187647166-187647174
48	KAP1	chr4:187646295-187648320	HEK293	kidney:	n/a	n/a
49	CTCF	chr4:187647100-187647250	HBMEC	blood vessel:	n/a	chr4:187647166-187647174
50	EGR1	chr4:187646970-187647247	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:187645076..187647185-chr4:187684194..187686273,2	K562	blood:
2	chr4:187645972..187647664-chr4:187867143..187868450,8	MCF-7	breast:
3	chr4:187646857..187647583-chr4:187867241..187868105,3	MCF-7	breast:
4	chr4:187645076..187647185-chr4:187684123..187686273,3	K562	blood:
5	chr11:61582742..61583406-chr4:187646760..187647639,2	Hela-S3	cervix:

Variant related genes	Relation type
FAT1	TF binding region
ENSG00000149485	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12498261	0.94[ASN][1000 genomes]
rs2276929	0.94[ASN][1000 genomes]
rs28666848	0.94[ASN][1000 genomes]
rs57818855	0.90[ASN][1000 genomes]
rs62342734	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73017545	0.94[ASN][1000 genomes]
rs73017551	0.94[ASN][1000 genomes]
rs7673895	0.90[ASN][1000 genomes]
rs960761	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv822892	chr4:187640281-187653074	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv822893	chr4:187642198-187652700	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv822894	chr4:187643349-187648419	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187642600-187649200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:187642800-187649000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:187643000-187648600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr4:187643000-187648600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:187643200-187648600	Active TSS	Right Ventricle	heart
6	chr4:187643200-187648600	Active TSS	HSMM	muscle
7	chr4:187643200-187648600	Active TSS	NHLF	lung
8	chr4:187643200-187648800	Active TSS	Osteobl	bone
9	chr4:187643200-187649000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:187643200-187649000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr4:187643200-187649000	Active TSS	HMEC	breast
12	chr4:187643200-187649200	Active TSS	Fetal Intestine Small	intestine
13	chr4:187643200-187649800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:187643400-187648600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr4:187643400-187649000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:187643400-187649000	Active TSS	NHDF-Ad	bronchial
17	chr4:187643400-187650000	Active TSS	Duodenum Mucosa	Duodenum
18	chr4:187643600-187647400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:187643600-187647600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:187643600-187648200	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr4:187643600-187648400	Active TSS	Stomach Mucosa	stomach
22	chr4:187643600-187648600	Active TSS	Colon Smooth Muscle	Colon
23	chr4:187643600-187648800	Active TSS	Brain Anterior Caudate	brain
24	chr4:187643600-187648800	Active TSS	A549	lung
25	chr4:187643600-187649000	Active TSS	HSMMtube	muscle
26	chr4:187643800-187647400	Active TSS	Fetal Intestine Large	intestine
27	chr4:187643800-187648400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
28	chr4:187643800-187648400	Bivalent/Poised TSS	Fetal Stomach	stomach
29	chr4:187643800-187648600	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr4:187643800-187648600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:187643800-187648600	Active TSS	NHEK	skin
32	chr4:187643800-187648800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:187643800-187649200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr4:187643800-187650000	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr4:187644000-187648200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:187644000-187648400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:187644000-187648400	Active TSS	Muscle Satellite Cultured Cells	--
38	chr4:187644000-187648400	Active TSS	Fetal Kidney	kidney
39	chr4:187644000-187648600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:187644000-187648600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:187644000-187648600	Active TSS	Ovary	ovary
42	chr4:187644000-187648600	Active TSS	NH-A	brain
43	chr4:187644000-187649000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr4:187644000-187649000	Active TSS	Aorta	Aorta
45	chr4:187644200-187648200	Active TSS	Gastric	stomach
46	chr4:187644200-187648200	Active TSS	Placenta Amnion	Placenta Amnion
47	chr4:187644200-187648400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:187644200-187648400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:187644200-187648400	Active TSS	Esophagus	oesophagus
50	chr4:187644200-187648400	Active TSS	Lung	lung

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