Variant report

Variant	rs73691193
Chromosome Location	chr8:67976379-67976380
allele	C/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	MXI1	chr8:67976223-67977263	K562	blood:	n/a	n/a
2	MAX	chr8:67976184-67977468	HepG2	liver:	n/a	chr8:67976548-67976558
3	POLR2A	chr8:67976292-67977257	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr8:67976178-67976889	HCT-116	colon:	n/a	n/a
5	REST	chr8:67976347-67976822	HepG2	liver:	n/a	n/a
6	MAX	chr8:67976322-67977347	Hela-S3	cervix:	n/a	chr8:67976548-67976558
7	CTCF	chr8:67976379-67976641	K562	blood:	n/a	chr8:67976509-67976530 chr8:67976512-67976522 chr8:67976507-67976525 chr8:67976508-67976524
8	SP1	chr8:67976269-67976921	GM12878	blood:	n/a	chr8:67976551-67976560 chr8:67976551-67976560 chr8:67976550-67976559 chr8:67976550-67976560 chr8:67976549-67976561 chr8:67976546-67976560 chr8:67976603-67976615 chr8:67976603-67976615 chr8:67976605-67976614 chr8:67976550-67976560 chr8:67976549-67976561
9	CEBPB	chr8:67976266-67976785	Hela-S3	cervix:	n/a	n/a
10	PAX5	chr8:67976348-67976788	GM12878	blood:	n/a	chr8:67976533-67976542
11	POLR2A	chr8:67976352-67976781	HepG2	liver:	n/a	n/a
12	MYC	chr8:67976327-67977104	K562	blood:	n/a	chr8:67976548-67976558
13	POLR2A	chr8:67973787-67977788	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr8:67976138-67976881	GM12891	blood:	n/a	n/a
15	JUND	chr8:67976329-67976864	A549	lung:	n/a	n/a
16	ARID3A	chr8:67976307-67976667	HepG2	liver:	n/a	n/a
17	YY1	chr8:67976334-67976852	HCT-116	colon:	n/a	chr8:67976550-67976559
18	POLR2A	chr8:67975955-67976942	PBDE	blood:	n/a	n/a
19	ZMIZ1	chr8:67976218-67976859	K562	blood:	n/a	n/a
20	POLR2A	chr8:67976355-67977306	MCF-7	breast:	n/a	n/a
21	TFAP2C	chr8:67976097-67977434	Hela-S3	cervix:	n/a	chr8:67976414-67976429
22	TAL1	chr8:67976353-67977503	K562	blood:	n/a	n/a
23	POLR2A	chr8:67976289-67976829	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr8:67976342-67976623	SK-N-SH_RA	brain:	n/a	chr8:67976509-67976530 chr8:67976512-67976522 chr8:67976507-67976525 chr8:67976508-67976524
25	RAD21	chr8:67976277-67976708	GM12878	blood:	n/a	chr8:67976508-67976527 chr8:67976481-67976494
26	CREB1	chr8:67976327-67977378	H1-hESC	embryonic stem cell:	n/a	n/a
27	PAX5	chr8:67976334-67976780	GM12878	blood:	n/a	chr8:67976533-67976542
28	CTCF	chr8:67976280-67976646	ECC-1	luminal epithelium:	n/a	chr8:67976509-67976530 chr8:67976512-67976522 chr8:67976507-67976525 chr8:67976508-67976524
29	POLR2A	chr8:67976162-67976877	HepG2	liver:	n/a	n/a
30	SIN3A	chr8:67976206-67977595	H1-hESC	embryonic stem cell:	n/a	chr8:67977158-67977171
31	BCLAF1	chr8:67976188-67976909	GM12878	blood:	n/a	chr8:67976829-67976842 chr8:67976605-67976614
32	CTCF	chr8:67976367-67976656	LNCaP	prostate:	n/a	chr8:67976509-67976530 chr8:67976512-67976522 chr8:67976507-67976525 chr8:67976508-67976524
33	CTCF	chr8:67975604-67977953	A549	lung:	n/a	chr8:67976509-67976530 chr8:67976512-67976522 chr8:67976507-67976525 chr8:67976508-67976524
34	TAF1	chr8:67976168-67977058	ECC-1	luminal epithelium:	n/a	n/a
35	TAF1	chr8:67976285-67976804	SK-N-SH	brain:	n/a	n/a
36	MAX	chr8:67976322-67976839	A549	lung:	n/a	chr8:67976548-67976558
37	TAF1	chr8:67976319-67976892	HepG2	liver:	n/a	n/a
38	POLR2A	chr8:67976250-67976886	HepG2	liver:	n/a	n/a
39	KAP1	chr8:67976247-67976806	HEK293	kidney:	n/a	n/a
40	RAD21	chr8:67976317-67976619	GM12878	blood:	n/a	chr8:67976508-67976527 chr8:67976481-67976494
41	POLR2A	chr8:67976247-67976865	SK-N-SH	brain:	n/a	n/a
42	TEAD4	chr8:67976350-67977264	H1-hESC	embryonic stem cell:	n/a	n/a
43	MYC	chr8:67976320-67977407	K562	blood:	n/a	chr8:67976548-67976558
44	POLR2A	chr8:67976222-67977277	GM12892	blood:	n/a	n/a
45	CHD2	chr8:67976344-67976875	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZBTB7A	chr8:67976309-67977352	K562	blood:	n/a	chr8:67976515-67976524
47	RCOR1	chr8:67976218-67976772	HepG2	liver:	n/a	n/a
48	FOXA1	chr8:67976217-67976646	T-47D	breast:	n/a	n/a
49	ZKSCAN1	chr8:67976222-67977068	Hela-S3	cervix:	n/a	n/a
50	MAX	chr8:67976074-67977519	HCT-116	colon:	n/a	chr8:67976548-67976558

No.	Distal block	Cell Line	Cell type
1	chr8:67586088..67588467-chr8:67974853..67976503,2	K562	blood:
2	chr8:67579804..67582751-chr8:67973278..67976626,5	K562	blood:
3	chr8:67830433..67839604-chr8:67970368..67979371,24	MCF-7	breast:
4	chr8:67828671..67841001-chr8:67968948..67981786,43	K562	blood:
5	chr8:67340059..67341609-chr8:67975911..67978100,2	K562	blood:
6	chr8:67866883..67869231-chr8:67974274..67977139,2	K562	blood:
7	chr8:67973427..67978093-chr8:68011189..68018690,8	K562	blood:
8	chr8:67827975..67841001-chr8:67966279..67982243,48	K562	blood:
9	chr8:67523268..67525543-chr8:67973888..67976833,2	MCF-7	breast:

Variant related genes	Relation type
CSPP1	TF binding region
COPS5	TF binding region
ENSG00000246145	Chromatin interaction
ENSG00000261787	Chromatin interaction
ENSG00000245910	Chromatin interaction
ENSG00000213865	Chromatin interaction
ENSG00000254341	Chromatin interaction
ENSG00000179041	Chromatin interaction
ENSG00000270024	Chromatin interaction
ENSG00000252637	Chromatin interaction
ENSG00000185697	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10504399	0.85[EUR][1000 genomes]
rs11557200	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986053	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986982	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988465	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990461	0.85[AMR][1000 genomes]
rs11992605	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997404	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12114202	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919053	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16933138	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933139	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933147	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933160	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16933162	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933170	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933173	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933182	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs16933190	0.95[EUR][1000 genomes]
rs16933204	0.85[EUR][1000 genomes]
rs16933214	0.85[EUR][1000 genomes]
rs2168542	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2290585	0.95[EUR][1000 genomes]
rs2305672	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2305673	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28547325	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3779995	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3780131	0.90[EUR][1000 genomes]
rs55662680	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55737416	0.90[EUR][1000 genomes]
rs55745066	0.95[EUR][1000 genomes]
rs55865037	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55983978	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs55986624	0.85[EUR][1000 genomes]
rs56101466	0.90[EUR][1000 genomes]
rs56858183	0.85[EUR][1000 genomes]
rs57101332	0.90[EUR][1000 genomes]
rs57867847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58448590	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58715460	0.85[EUR][1000 genomes]
rs59335949	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59634730	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59870074	0.81[EUR][1000 genomes]
rs60324950	0.90[EUR][1000 genomes]
rs60666237	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60894518	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61085456	0.85[AMR][1000 genomes]
rs61193782	0.90[EUR][1000 genomes]
rs6472289	0.85[AMR][1000 genomes]
rs6982699	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6984447	0.85[AMR][1000 genomes]
rs6984568	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984650	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6987597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991974	0.90[EUR][1000 genomes]
rs73691182	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691185	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73691186	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73691192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693124	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73693135	0.84[EUR][1000 genomes]
rs73693152	0.90[EUR][1000 genomes]
rs73693153	0.90[EUR][1000 genomes]
rs73693631	0.85[AMR][1000 genomes]
rs73693632	0.85[AMR][1000 genomes]
rs7461383	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812425	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812510	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7815142	0.85[AMR][1000 genomes]
rs7815863	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7816827	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7819894	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7819895	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7820403	0.85[AMR][1000 genomes]
rs7822754	0.85[EUR][1000 genomes]
rs7824775	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833373	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834516	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7841884	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842770	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7846677	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67972000-67978000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:67973000-67978000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:67973200-67977600	Active TSS	Colonic Mucosa	Colon
4	chr8:67973400-67977800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:67973400-67977800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr8:67973400-67978000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr8:67973400-67978200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:67973400-67978400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:67973600-67977800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr8:67973600-67978200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:67973800-67977600	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr8:67974000-67977800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:67974400-67977600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:67974800-67976400	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr8:67974800-67976400	Flanking Active TSS	Hela-S3	cervix
16	chr8:67974800-67976600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr8:67974800-67976600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr8:67974800-67976600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr8:67974800-67977000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:67974800-67978200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:67975000-67976400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr8:67975000-67976400	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr8:67975000-67976400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr8:67975000-67976400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr8:67975000-67976400	Flanking Active TSS	Dnd41	blood
26	chr8:67975000-67976600	Weak transcription	Spleen	Spleen
27	chr8:67975000-67977800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr8:67975200-67976600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr8:67975200-67976600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:67975200-67977600	Active TSS	HepG2	liver
31	chr8:67975400-67976400	Flanking Active TSS	Thymus	Thymus
32	chr8:67975400-67977400	Active TSS	Osteobl	bone
33	chr8:67975600-67976400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:67975600-67976400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:67975600-67976400	Flanking Active TSS	Liver	Liver
36	chr8:67975600-67976400	Flanking Active TSS	HMEC	breast
37	chr8:67975600-67976400	Flanking Active TSS	K562	blood
38	chr8:67975600-67976400	Flanking Active TSS	NHEK	skin
39	chr8:67975600-67976600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr8:67975600-67978000	Active TSS	Placenta	Placenta
41	chr8:67975800-67976400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:67975800-67976400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr8:67975800-67976400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:67975800-67976400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr8:67975800-67976400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:67975800-67976400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr8:67975800-67976400	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr8:67975800-67976400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr8:67975800-67976400	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr8:67975800-67976400	Flanking Active TSS	A549	lung

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