Variant report

Variant	rs9366871
Chromosome Location	chr6:34854745-34854746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr6:34854733-34854929	K562	blood:	n/a	n/a
2	MAX	chr6:34854606-34854864	K562	blood:	n/a	n/a
3	POLR2A	chr6:34854698-34854804	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34733163..34735637-chr6:34853537..34855573,2	K562	blood:
2	chr6:34723520..34726444-chr6:34854512..34857469,3	MCF-7	breast:
3	chr6:34759044..34761297-chr6:34854138..34856970,2	K562	blood:
4	chr6:34853391..34855742-chr6:34918404..34920858,2	K562	blood:
5	chr6:34758735..34762506-chr6:34853024..34858695,7	MCF-7	breast:

No data

Variant related genes	Relation type
ANKS1A	TF binding region
ENSG00000065060	Chromatin interaction
ENSG00000124562	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1125342	0.81[ASN][1000 genomes]
rs11970238	0.80[ASN][1000 genomes]
rs12110520	1.00[CEU][hapmap]
rs12110664	1.00[CEU][hapmap]
rs12111424	1.00[CEU][hapmap]
rs12173920	0.93[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12175621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12176092	0.93[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16894102	1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs16894945	1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16894995	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs16895362	0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16895467	0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16896235	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2236392	0.81[ASN][1000 genomes]
rs2273007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764199	0.81[JPT][hapmap]
rs3734260	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3734263	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3756857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3777751	0.83[ASN][1000 genomes]
rs3798349	1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[ASN][1000 genomes]
rs3798351	0.81[ASN][1000 genomes]
rs3800442	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800447	0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3800449	0.93[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3807051	0.83[ASN][1000 genomes]
rs4646923	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56825685	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57338415	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57608318	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57637041	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57645599	0.81[ASN][1000 genomes]
rs58654146	0.83[ASN][1000 genomes]
rs58764768	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58817410	0.83[ASN][1000 genomes]
rs58833137	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59851773	0.83[ASN][1000 genomes]
rs59884600	0.81[ASN][1000 genomes]
rs60439875	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60509690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60815469	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6939345	1.00[JPT][hapmap]
rs73417786	0.81[ASN][1000 genomes]
rs73419615	0.83[ASN][1000 genomes]
rs73419643	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73419650	0.86[ASN][1000 genomes]
rs73419656	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73419658	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73419660	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73419689	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73421513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421527	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73421528	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73421536	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73421541	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs820102	1.00[CEU][hapmap]
rs847849	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9348952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348954	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9348955	1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9348956	1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9357186	0.93[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357189	0.83[CHB][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9357191	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9366873	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368840	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9368842	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9380471	0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9380472	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9380475	0.82[ASN][1000 genomes]
rs9394253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394257	0.93[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9394258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9394259	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9394261	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9394262	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9394264	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9394265	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv1028363	chr6:34733071-34859045	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1015792	chr6:34741917-34887316	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1021733	chr6:34751052-34887316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
17	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
18	esv1811041	chr6:34851134-34856501	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a
19	esv1802115	chr6:34852176-34856501	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34820200-34855000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:34830000-34855000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:34835800-34855200	Weak transcription	Small Intestine	intestine
4	chr6:34840800-34854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:34841400-34855200	Weak transcription	Fetal Heart	heart
6	chr6:34842600-34854800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:34844000-34854800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:34848000-34854800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:34848000-34854800	Weak transcription	Gastric	stomach
10	chr6:34848200-34854800	Weak transcription	Esophagus	oesophagus
11	chr6:34848200-34854800	Weak transcription	Left Ventricle	heart
12	chr6:34848200-34855000	Weak transcription	Aorta	Aorta
13	chr6:34848400-34855000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:34848400-34855000	Weak transcription	Ovary	ovary
15	chr6:34849600-34854800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:34851200-34855000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:34851400-34854800	Weak transcription	Lung	lung
18	chr6:34853400-34854800	Enhancers	Pancreas	Pancrea
19	chr6:34853400-34855000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr6:34853400-34855000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:34853800-34854800	Enhancers	Liver	Liver
22	chr6:34853800-34855000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:34853800-34855000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:34853800-34855200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:34854000-34854800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:34854000-34854800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr6:34854000-34854800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr6:34854000-34855400	Flanking Active TSS	Dnd41	blood
29	chr6:34854200-34854800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:34854200-34854800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:34854200-34858200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:34854400-34854800	Enhancers	Placenta	Placenta
33	chr6:34854400-34854800	Active TSS	Stomach Smooth Muscle	stomach
34	chr6:34854400-34854800	Flanking Active TSS	HepG2	liver
35	chr6:34854400-34855000	Enhancers	Primary B cells from peripheral blood	blood
36	chr6:34854400-34855000	Enhancers	Fetal Brain Male	brain
37	chr6:34854400-34855400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:34854400-34858200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:34854400-34858200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:34854400-34858200	Active TSS	K562	blood
41	chr6:34854400-34859200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr6:34854600-34854800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:34854600-34854800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr6:34854600-34854800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr6:34854600-34854800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:34854600-34854800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:34854600-34854800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr6:34854600-34854800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:34854600-34854800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:34854600-34854800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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