Variant report

Variant	rs73694463
Chromosome Location	chr8:90741317-90741318
allele	A/G
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	chr8:90741249-90741621	K562	blood:	n/a	n/a
2	CREB1	chr8:90741080-90741851	K562	blood:	n/a	n/a
3	YY1	chr8:90741084-90741653	GM12892	blood:	n/a	chr8:90741320-90741330 chr8:90741308-90741330 chr8:90741318-90741330
4	EP300	chr8:90741289-90741486	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr8:90741102-90741585	K562	blood:	n/a	chr8:90741231-90741240 chr8:90741231-90741242 chr8:90741229-90741242 chr8:90741229-90741240 chr8:90741229-90741242
6	POLR2A	chr8:90741167-90741939	K562	blood:	n/a	n/a
7	RUNX3	chr8:90741138-90741821	GM12878	blood:	n/a	n/a
8	MAX	chr8:90741009-90741678	K562	blood:	n/a	chr8:90741491-90741500
9	RCOR1	chr8:90741309-90741682	K562	blood:	n/a	n/a
10	GATA1	chr8:90740790-90741746	PBDE	blood:	n/a	chr8:90741067-90741074 chr8:90741067-90741074 chr8:90741062-90741078 chr8:90741067-90741074
11	POLR2A	chr8:90741151-90741980	GM12878	blood:	n/a	n/a
12	HEY1	chr8:90741293-90741721	K562	blood:	n/a	n/a
13	CEBPB	chr8:90741077-90741600	IMR90	lung:	n/a	chr8:90741231-90741240 chr8:90741231-90741242 chr8:90741229-90741242 chr8:90741229-90741240 chr8:90741229-90741242
14	CEBPB	chr8:90741015-90741724	K562	blood:	n/a	chr8:90741231-90741240 chr8:90741231-90741242 chr8:90741229-90741242 chr8:90741229-90741240 chr8:90741229-90741242
15	MTA3	chr8:90741199-90741837	GM12878	blood:	n/a	n/a
16	MAFK	chr8:90741029-90741672	K562	blood:	n/a	n/a
17	IRF1	chr8:90740988-90741733	K562	blood:	n/a	n/a
18	ZC3H11A	chr8:90741289-90741583	K562	blood:	n/a	n/a
19	PML	chr8:90741217-90741751	K562	blood:	n/a	n/a
20	EBF1	chr8:90741164-90741777	GM12878	blood:	n/a	n/a
21	RELA	chr8:90741190-90742754	GM12878	blood:	n/a	chr8:90742262-90742271 chr8:90742262-90742271
22	EP300	chr8:90740904-90741718	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:90741300-90741803	GM12878	blood:	n/a	n/a
24	ARID3A	chr8:90741133-90741702	K562	blood:	n/a	n/a
25	POLR2A	chr8:90741223-90741734	K562	blood:	n/a	n/a
26	CREB1	chr8:90741234-90741811	GM12878	blood:	n/a	n/a
27	NFIC	chr8:90740962-90741914	GM12878	blood:	n/a	n/a
28	CHD2	chr8:90741247-90741755	GM12878	blood:	n/a	n/a
29	YY1	chr8:90741193-90741439	H1-hESC	embryonic stem cell:	n/a	chr8:90741320-90741330 chr8:90741308-90741330 chr8:90741318-90741330
30	ZMIZ1	chr8:90741001-90741661	K562	blood:	n/a	n/a
31	CUX1	chr8:90740894-90741641	K562	blood:	n/a	n/a
32	CEBPB	chr8:90741060-90741480	HepG2	liver:	n/a	chr8:90741231-90741240 chr8:90741231-90741242 chr8:90741229-90741242 chr8:90741229-90741240 chr8:90741229-90741242
33	IRF1	chr8:90741198-90741761	K562	blood:	n/a	n/a
34	NR2F2	chr8:90741217-90741759	K562	blood:	n/a	n/a
35	FOXM1	chr8:90741309-90741888	GM12878	blood:	n/a	n/a
36	STAT5A	chr8:90741266-90741745	GM12878	blood:	n/a	n/a
37	BCLAF1	chr8:90741285-90741840	GM12878	blood:	n/a	n/a
38	ZNF384	chr8:90741171-90741856	K562	blood:	n/a	n/a
39	CREB1	chr8:90741114-90741774	GM12878	blood:	n/a	n/a
40	GTF2F1	chr8:90741296-90741641	K562	blood:	n/a	n/a
41	POLR2A	chr8:90741161-90741801	Raji	blood:	n/a	n/a
42	ATF2	chr8:90741207-90741815	GM12878	blood:	n/a	n/a
43	NFATC1	chr8:90741272-90741757	GM12878	blood:	n/a	n/a
44	RCOR1	chr8:90741056-90741764	K562	blood:	n/a	n/a
45	TEAD4	chr8:90741221-90741734	K562	blood:	n/a	n/a
46	TBL1XR1	chr8:90740504-90741731	K562	blood:	n/a	n/a
47	TRIM28	chr8:90741224-90741762	K562	blood:	n/a	n/a
48	TAL1	chr8:90740864-90741716	K562	blood:	n/a	n/a
49	ZNF143	chr8:90741254-90741631	K562	blood:	n/a	n/a
50	POLR2A	chr8:90740941-90742723	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90740620..90742197-chr8:90743722..90745998,2	K562	blood:
2	chr8:90738912..90741485-chr8:91017416..91019883,2	K562	blood:
3	chr8:90740621..90743258-chr8:90763138..90765800,2	K562	blood:
4	chr8:90741234..90743922-chr8:90995229..90998004,3	MCF-7	breast:
5	chr8:90739799..90743850-chr8:90767861..90774313,11	K562	blood:
6	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
7	chr8:90732925..90737686-chr8:90738407..90742912,6	K562	blood:
8	chr8:90732834..90736227-chr8:90736670..90741646,5	MCF-7	breast:
9	chr8:90740411..90742010-chr8:90994882..90996914,2	K562	blood:
10	chr8:90737934..90739593-chr8:90739830..90742161,2	K562	blood:
11	chr8:90740691..90742554-chr8:91012981..91015197,3	MCF-7	breast:
12	chr8:90739799..90744088-chr8:90767861..90774313,10	K562	blood:
13	chr8:90740510..90743977-chr8:90993488..90997809,6	K562	blood:
14	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
15	chr8:90736651..90739528-chr8:90739958..90742509,3	MCF-7	breast:
16	chr8:90734630..90736246-chr8:90739978..90742912,2	K562	blood:

Variant related genes	Relation type
ENSG00000251136	TF binding region
ENSG00000104320	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000104325	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10504882	0.95[ASN][1000 genomes]
rs10504883	0.85[ASN][1000 genomes]
rs16900025	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16900480	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16900484	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16900581	0.85[ASN][1000 genomes]
rs16900589	0.85[ASN][1000 genomes]
rs16900592	0.85[ASN][1000 genomes]
rs16900617	0.85[ASN][1000 genomes]
rs16900677	0.85[ASN][1000 genomes]
rs16900711	0.85[ASN][1000 genomes]
rs2293807	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs55697113	0.85[ASN][1000 genomes]
rs55702923	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs55881928	0.85[ASN][1000 genomes]
rs55914077	0.95[ASN][1000 genomes]
rs55945927	0.90[ASN][1000 genomes]
rs56118532	0.95[ASN][1000 genomes]
rs56275901	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs56302550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56716125	0.95[ASN][1000 genomes]
rs56793332	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs57701764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58330617	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58972679	0.95[ASN][1000 genomes]
rs59312383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59581432	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59678171	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59924471	0.85[ASN][1000 genomes]
rs59941801	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59988473	0.95[ASN][1000 genomes]
rs60183011	0.95[ASN][1000 genomes]
rs60327583	0.83[ASN][1000 genomes]
rs60651842	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60691618	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60772522	0.95[ASN][1000 genomes]
rs60959735	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61017576	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs61044501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61258433	0.85[ASN][1000 genomes]
rs61450435	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61662505	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6998044	0.95[ASN][1000 genomes]
rs7010806	0.95[ASN][1000 genomes]
rs73694459	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73694461	0.97[ASN][1000 genomes]
rs73694462	0.97[ASN][1000 genomes]
rs73694485	0.90[ASN][1000 genomes]
rs73694486	0.90[ASN][1000 genomes]
rs73694487	0.85[ASN][1000 genomes]
rs73694488	0.85[ASN][1000 genomes]
rs73694490	0.85[ASN][1000 genomes]
rs73694492	0.85[ASN][1000 genomes]
rs73694493	0.85[ASN][1000 genomes]
rs73694496	0.81[ASN][1000 genomes]
rs7817339	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7829418	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7839470	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7839478	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9721216	0.97[AFR][1000 genomes];0.88[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	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
5	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
2	chr8:90714200-90741400	Weak transcription	Right Ventricle	heart
3	chr8:90717800-90747800	Weak transcription	Ovary	ovary
4	chr8:90720800-90742400	Weak transcription	Fetal Lung	lung
5	chr8:90726600-90741400	Weak transcription	Esophagus	oesophagus
6	chr8:90737000-90741400	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:90737200-90741400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:90738000-90741400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:90738200-90741400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:90738400-90741400	Weak transcription	Right Atrium	heart
11	chr8:90738600-90742400	Weak transcription	Aorta	Aorta
12	chr8:90738600-90749000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:90738600-90749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:90739000-90749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:90739200-90744800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:90739200-90748800	Weak transcription	A549	lung
17	chr8:90739400-90741400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:90739400-90745400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:90739600-90742000	Weak transcription	HMEC	breast
20	chr8:90739600-90743000	Weak transcription	HSMM	muscle
21	chr8:90740000-90742600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr8:90740200-90741600	Enhancers	Fetal Intestine Small	intestine
23	chr8:90740400-90741400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:90740400-90741400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:90740400-90741400	Flanking Active TSS	GM12878-XiMat	blood
26	chr8:90740400-90741600	Enhancers	Small Intestine	intestine
27	chr8:90740400-90741800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:90740400-90741800	Enhancers	NHDF-Ad	bronchial
29	chr8:90740400-90742000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:90740400-90742600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr8:90740400-90742800	Enhancers	Fetal Intestine Large	intestine
32	chr8:90740600-90741400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:90740600-90741400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:90740600-90741400	Enhancers	Fetal Heart	heart
35	chr8:90740600-90741800	Enhancers	NHEK	skin
36	chr8:90740600-90742200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:90740800-90741400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr8:90740800-90741400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr8:90740800-90741400	Flanking Active TSS	K562	blood
40	chr8:90740800-90741600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:90740800-90741800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:90740800-90742000	Enhancers	Primary hematopoietic stem cells	blood
43	chr8:90740800-90742000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:90740800-90742200	Enhancers	Primary B cells from cord blood	blood
45	chr8:90740800-90742800	Enhancers	Stomach Mucosa	stomach
46	chr8:90741000-90741400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:90741000-90741400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr8:90741000-90741400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:90741000-90741600	Enhancers	Gastric	stomach
50	chr8:90741000-90741600	Enhancers	Stomach Smooth Muscle	stomach

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