Variant report

Variant	rs7694723
Chromosome Location	chr4:87515832-87515833
allele	A/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	SIN3A	chr4:87514658-87516665	H1-hESC	embryonic stem cell:	n/a	chr4:87515808-87515819 chr4:87515790-87515798 chr4:87516285-87516298 chr4:87516291-87516299 chr4:87515437-87515450
2	POLR2A	chr4:87514994-87515948	MCF-7	breast:	n/a	n/a
3	MYC	chr4:87514875-87516629	NB4	blood:	n/a	chr4:87516065-87516074 chr4:87516469-87516478
4	POLR2A	chr4:87514869-87515893	GM12878	blood:	n/a	n/a
5	EP300	chr4:87515673-87516713	SK-N-SH	brain:	n/a	chr4:87515800-87515816
6	POLR2A	chr4:87515010-87515964	A549	lung:	n/a	n/a
7	MAX	chr4:87514908-87515919	A549	lung:	n/a	n/a
8	TCF12	chr4:87515125-87516829	SK-N-SH	brain:	n/a	chr4:87515889-87515899 chr4:87515331-87515339
9	POLR2A	chr4:87514978-87515914	ProgFib	skin:	n/a	n/a
10	MXI1	chr4:87514804-87517131	IMR90	lung:	n/a	chr4:87515287-87515302
11	MAZ	chr4:87514934-87516683	GM12878	blood:	n/a	chr4:87516065-87516074 chr4:87516469-87516478
12	POLR2A	chr4:87515179-87516890	Hela-S3	cervix:	n/a	n/a
13	REST	chr4:87514755-87516530	H1-neurons	neurons:	n/a	chr4:87516285-87516298 chr4:87515437-87515450 chr4:87515440-87515453 chr4:87515278-87515288 chr4:87515791-87515799 chr4:87515557-87515570
14	POLR2A	chr4:87514928-87516631	HEK293	kidney:	n/a	n/a
15	RFX5	chr4:87513354-87517357	SK-N-SH	brain:	n/a	chr4:87517101-87517110 chr4:87515266-87515281 chr4:87515341-87515350
16	CHD2	chr4:87515027-87516396	Hela-S3	cervix:	n/a	n/a
17	MAZ	chr4:87514856-87516888	IMR90	lung:	n/a	chr4:87516065-87516074 chr4:87516469-87516478
18	RAD21	chr4:87515142-87516458	IMR90	lung:	n/a	chr4:87515812-87515826 chr4:87515474-87515487
19	CHD2	chr4:87514885-87516443	GM12878	blood:	n/a	n/a
20	SIN3AK20	chr4:87515000-87515860	H1-hESC	embryonic stem cell:	n/a	n/a
21	RUNX3	chr4:87514794-87516796	GM12878	blood:	n/a	n/a
22	TCF12	chr4:87515324-87515926	ECC-1	luminal epithelium:	n/a	chr4:87515889-87515899 chr4:87515331-87515339
23	ZNF263	chr4:87514910-87516854	HEK293-T-REx	kidney:	n/a	chr4:87515313-87515334 chr4:87515312-87515321 chr4:87515738-87515747 chr4:87515741-87515750 chr4:87515735-87515744
24	POLR2A	chr4:87515759-87516446	GM12891	blood:	n/a	n/a
25	MAZ	chr4:87515188-87516522	Hela-S3	cervix:	n/a	chr4:87516065-87516074 chr4:87516469-87516478
26	TAF1	chr4:87514752-87516019	H1-hESC	embryonic stem cell:	n/a	n/a
27	TEAD4	chr4:87515177-87516763	SK-N-SH	brain:	n/a	n/a
28	SIN3AK20	chr4:87515231-87515968	PANC-1	pancreas:	n/a	n/a
29	MAX	chr4:87514973-87516162	MCF-7	breast:	n/a	chr4:87516065-87516074
30	POLR2A	chr4:87514889-87516121	H1-neurons	neurons:	n/a	n/a
31	MAX	chr4:87515082-87516194	ECC-1	luminal epithelium:	n/a	chr4:87516065-87516074
32	RAD21	chr4:87515003-87516370	H1-hESC	embryonic stem cell:	n/a	chr4:87515812-87515826 chr4:87515474-87515487
33	MAX	chr4:87515799-87516600	SK-N-SH	brain:	n/a	chr4:87516065-87516074 chr4:87516469-87516478
34	POLR2A	chr4:87513750-87517480	MCF10A-Er-Src	breast:	n/a	n/a
35	BHLHE40	chr4:87515048-87516419	GM12878	blood:	n/a	n/a
36	RAD21	chr4:87514884-87516540	SK-N-SH_RA	brain:	n/a	chr4:87515812-87515826 chr4:87515474-87515487
37	MAX	chr4:87514747-87516554	A549	lung:	n/a	chr4:87516065-87516074 chr4:87516469-87516478
38	MAX	chr4:87515244-87516496	Hela-S3	cervix:	n/a	chr4:87516065-87516074 chr4:87516469-87516478
39	TAF7	chr4:87514928-87515971	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr4:87514714-87517094	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr4:87515002-87516565	NB4	blood:	n/a	n/a
42	POLR2A	chr4:87514981-87515971	Gliobla	brain:	n/a	n/a
43	MXI1	chr4:87514565-87516730	GM12878	blood:	n/a	chr4:87515287-87515302
44	TAF1	chr4:87514732-87516584	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr4:87515824-87515971	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr4:87515080-87516038	MCF-7	breast:	n/a	n/a
47	MAX	chr4:87515023-87516639	SK-N-SH	brain:	n/a	chr4:87516065-87516074 chr4:87516469-87516478
48	POLR2A	chr4:87515091-87515956	MCF-7	breast:	n/a	n/a
49	SMC3	chr4:87515176-87517007	Hela-S3	cervix:	n/a	n/a
50	PML	chr4:87514794-87516691	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:87515391..87517685-chr4:87812251..87815383,4	MCF-7	breast:
2	chr17:56756591..56757518-chr4:87515320..87516003,2	Hela-S3	cervix:
3	chr4:87514124..87517809-chr4:87811943..87814768,5	MCF-7	breast:

Variant related genes	Relation type
MAPK10	TF binding region
PTPN13	TF binding region
ENSG00000200997	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10008165	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10023787	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10029671	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs10030525	0.85[ASN][1000 genomes]
rs10031843	0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs1021101	0.94[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1026861	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11097115	0.94[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs11943428	0.93[ASN][1000 genomes]
rs11947018	0.89[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11947775	0.82[ASN][1000 genomes]
rs1481833	0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs17011986	0.84[ASN][1000 genomes]
rs17419295	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs17419627	0.84[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs17419929	0.84[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs17453839	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs28483710	0.96[ASN][1000 genomes]
rs28485273	0.91[ASN][1000 genomes]
rs28529445	0.93[ASN][1000 genomes]
rs28534599	0.91[ASN][1000 genomes]
rs28535527	0.85[ASN][1000 genomes]
rs28663376	0.91[ASN][1000 genomes]
rs28678816	0.90[ASN][1000 genomes]
rs28735881	0.91[ASN][1000 genomes]
rs4235081	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4277747	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4405982	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4407468	0.82[ASN][1000 genomes]
rs4452393	0.83[ASN][1000 genomes]
rs4466012	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4511966	0.83[ASN][1000 genomes]
rs4513526	0.96[ASN][1000 genomes]
rs4529013	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4552430	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4607180	0.82[ASN][1000 genomes]
rs4622964	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4640633	0.82[ASN][1000 genomes]
rs4693147	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs4693772	0.82[ASN][1000 genomes]
rs4693776	0.82[ASN][1000 genomes]
rs4693777	0.80[ASN][1000 genomes]
rs55640323	0.85[ASN][1000 genomes]
rs55653332	0.82[ASN][1000 genomes]
rs55654230	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55746316	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55757426	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55773619	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55842318	0.82[ASN][1000 genomes]
rs55872468	0.82[ASN][1000 genomes]
rs55879246	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55908925	0.82[ASN][1000 genomes]
rs55930543	0.82[ASN][1000 genomes]
rs55978957	0.85[ASN][1000 genomes]
rs55982489	0.82[ASN][1000 genomes]
rs56009992	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56150118	0.93[ASN][1000 genomes]
rs56164000	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56178389	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56296936	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56348925	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56353461	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59644743	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61152200	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6531932	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs66669421	0.91[ASN][1000 genomes]
rs67274037	0.91[ASN][1000 genomes]
rs67341369	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67523832	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67928053	0.96[ASN][1000 genomes]
rs6822396	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs6838659	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6847139	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72665711	0.82[ASN][1000 genomes]
rs72665712	0.82[ASN][1000 genomes]
rs72665714	0.82[ASN][1000 genomes]
rs72665719	0.82[ASN][1000 genomes]
rs72665722	0.81[ASN][1000 genomes]
rs72665724	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72665725	0.81[ASN][1000 genomes]
rs72665729	0.82[ASN][1000 genomes]
rs72665734	0.82[ASN][1000 genomes]
rs72665736	0.82[ASN][1000 genomes]
rs72665737	0.82[ASN][1000 genomes]
rs72665738	0.82[ASN][1000 genomes]
rs72665740	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72665744	0.82[ASN][1000 genomes]
rs72665746	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72665752	0.82[ASN][1000 genomes]
rs72665753	0.83[ASN][1000 genomes]
rs72665756	0.83[ASN][1000 genomes]
rs72665759	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72665762	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72665769	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72665771	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72665772	0.93[ASN][1000 genomes]
rs72665777	0.91[ASN][1000 genomes]
rs7435744	0.83[ASN][1000 genomes]
rs7673698	0.82[ASN][1000 genomes]
rs7695011	0.82[ASN][1000 genomes]
rs7697819	0.80[ASN][1000 genomes]
rs9307020	0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs9993042	0.94[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv879522	chr4:87473776-87644842	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv822635	chr4:87479576-87622176	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87513200-87518000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:87513200-87518600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:87513400-87517400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:87513600-87517400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr4:87513600-87518000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr4:87513600-87518400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:87513800-87517000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:87513800-87517800	Active TSS	Brain Anterior Caudate	brain
9	chr4:87513800-87518400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:87514000-87516200	Active TSS	Fetal Brain Female	brain
11	chr4:87514000-87517400	Active TSS	A549	lung
12	chr4:87514000-87518600	Active TSS	Fetal Kidney	kidney
13	chr4:87514000-87519000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:87514200-87517200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr4:87514200-87517400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr4:87514200-87517800	Active TSS	Brain Angular Gyrus	brain
17	chr4:87514400-87517000	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr4:87514400-87517400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:87514400-87517600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:87514400-87518400	Active TSS	Right Atrium	heart
21	chr4:87514600-87516600	Active TSS	Fetal Heart	heart
22	chr4:87514600-87517000	Active TSS	Colon Smooth Muscle	Colon
23	chr4:87514600-87517200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr4:87514600-87517200	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr4:87514600-87517200	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr4:87514600-87517200	Active TSS	NHLF	lung
27	chr4:87514600-87517600	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr4:87514600-87517600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr4:87514600-87518000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:87514600-87518200	Active TSS	NHDF-Ad	bronchial
31	chr4:87514600-87518200	Active TSS	NHEK	skin
32	chr4:87514600-87518800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr4:87514800-87516200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:87514800-87516600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
35	chr4:87514800-87516600	Flanking Active TSS	Placenta	Placenta
36	chr4:87514800-87516600	Active TSS	Gastric	stomach
37	chr4:87514800-87516600	Active TSS	Placenta Amnion	Placenta Amnion
38	chr4:87514800-87516800	Active TSS	Fetal Intestine Large	intestine
39	chr4:87514800-87516800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr4:87514800-87517000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:87514800-87517000	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr4:87514800-87517000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr4:87514800-87517000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:87514800-87517000	Active TSS	Aorta	Aorta
45	chr4:87514800-87517000	Active TSS	Fetal Lung	lung
46	chr4:87514800-87517000	Active TSS	Pancreas	Pancrea
47	chr4:87514800-87517000	Active TSS	Rectal Smooth Muscle	rectum
48	chr4:87514800-87517200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:87514800-87517200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:87514800-87517200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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