Variant report

Variant	rs12800703
Chromosome Location	chr11:63746120-63746121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63745696..63748680-chr11:63932850..63935107,2	MCF-7	breast:
2	chr11:63744148..63748440-chr11:63764660..63767519,3	K562	blood:
3	chr11:63742451..63744007-chr11:63744491..63747148,2	MCF-7	breast:
4	chr11:63744148..63746964-chr11:63765815..63767519,2	K562	blood:

Variant related genes	Relation type
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10751004	0.83[EUR][1000 genomes]
rs10792424	0.83[EUR][1000 genomes]
rs10897459	0.87[CEU][hapmap]
rs10897465	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10897466	0.80[CEU][hapmap]
rs10897467	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10897468	0.81[EUR][1000 genomes]
rs10897469	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10897470	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231603	1.00[YRI][hapmap]
rs11231628	0.87[CEU][hapmap]
rs11231643	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11231646	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs11231655	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11231662	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11231663	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11231664	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231670	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231671	0.95[CEU][hapmap];0.86[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11600062	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11601228	0.84[EUR][1000 genomes]
rs11605797	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417157	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12417507	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12418000	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12421757	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12786124	0.87[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs12790749	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12793201	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12794404	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12797540	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12798491	0.80[CEU][hapmap]
rs12808604	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1684950	0.83[EUR][1000 genomes]
rs1783964	0.81[EUR][1000 genomes]
rs2129467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186572	1.00[YRI][hapmap]
rs224173	0.85[AMR][1000 genomes]
rs2318110	0.81[EUR][1000 genomes]
rs2318126	0.87[CEU][hapmap]
rs3019782	0.81[EUR][1000 genomes]
rs3019785	0.85[AMR][1000 genomes]
rs320121	0.82[EUR][1000 genomes]
rs320156	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs34134698	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34595065	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740636	0.80[CEU][hapmap]
rs3740637	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4426138	0.80[EUR][1000 genomes]
rs449047	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs454474	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs479975	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481835	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs483340	0.83[EUR][1000 genomes]
rs487540	0.83[EUR][1000 genomes]
rs488082	0.83[EUR][1000 genomes]
rs492357	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4980499	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4980500	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4980501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4980509	0.83[EUR][1000 genomes]
rs4980512	0.80[CEU][hapmap]
rs4980516	0.83[EUR][1000 genomes]
rs4980517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4980530	0.87[CEU][hapmap]
rs499118	0.83[EUR][1000 genomes]
rs501278	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs502858	0.83[EUR][1000 genomes]
rs504060	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs509701	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs523586	0.81[AMR][1000 genomes]
rs529915	0.81[EUR][1000 genomes]
rs539432	0.85[EUR][1000 genomes]
rs553724	0.82[EUR][1000 genomes]
rs562865	0.83[EUR][1000 genomes]
rs567386	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs578295	0.83[EUR][1000 genomes]
rs579669	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs581355	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs646384	1.00[YRI][hapmap]
rs6591830	0.80[EUR][1000 genomes]
rs660070	1.00[YRI][hapmap]
rs67136175	0.91[EUR][1000 genomes]
rs709594	0.82[EUR][1000 genomes]
rs7112348	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs728919	0.80[CEU][hapmap]
rs7926608	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7928990	0.81[EUR][1000 genomes]
rs7936614	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7938498	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs7942318	0.83[EUR][1000 genomes]
rs928948	0.87[CEU][hapmap]
rs947939	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63742600-63746800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63743000-63753000	Weak transcription	Aorta	Aorta
3	chr11:63744000-63746400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:63744000-63753000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:63744000-63753000	Weak transcription	Fetal Kidney	kidney
6	chr11:63744000-63753000	Weak transcription	Small Intestine	intestine
7	chr11:63744200-63746200	Weak transcription	Right Atrium	heart
8	chr11:63744200-63746400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:63744200-63747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:63744200-63749000	Weak transcription	Primary B cells from cord blood	blood
11	chr11:63744200-63749600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:63744200-63749800	Weak transcription	Primary T cells from cord blood	blood
13	chr11:63744200-63749800	Weak transcription	NHDF-Ad	bronchial
14	chr11:63744200-63753000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:63744200-63753000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:63744400-63746200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:63744400-63746200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:63744400-63746200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:63744400-63746200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:63744400-63746200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:63744400-63746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:63744400-63746200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:63744400-63746200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr11:63744400-63746200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:63744400-63746200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:63744400-63746200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:63744400-63746200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:63744400-63746200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:63744400-63746200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:63744400-63746200	Weak transcription	Adipose Nuclei	Adipose
31	chr11:63744400-63746200	Weak transcription	Brain Angular Gyrus	brain
32	chr11:63744400-63746200	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:63744400-63746200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr11:63744400-63746200	Weak transcription	Esophagus	oesophagus
35	chr11:63744400-63746200	Strong transcription	Fetal Stomach	stomach
36	chr11:63744400-63746200	Weak transcription	Left Ventricle	heart
37	chr11:63744400-63746200	Weak transcription	Pancreas	Pancrea
38	chr11:63744400-63746200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:63744400-63746200	Weak transcription	Right Ventricle	heart
40	chr11:63744400-63746200	Weak transcription	HSMM	muscle
41	chr11:63744400-63746400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:63744400-63746400	Weak transcription	Colonic Mucosa	Colon
43	chr11:63744400-63746400	Weak transcription	Placenta	Placenta
44	chr11:63744400-63746400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:63744400-63746800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:63744400-63746800	Strong transcription	Fetal Thymus	thymus
47	chr11:63744400-63747200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:63744400-63749000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:63744400-63749800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:63744400-63749800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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