Variant report

Variant	rs12363853
Chromosome Location	chr11:5830163-5830164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:5621238..5622269-chr11:5829297..5830332,4	MCF-7	breast:
2	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
3	chr11:5823269..5825988-chr11:5829238..5831177,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1032648	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1032649	0.83[ASN][1000 genomes]
rs11039010	0.82[AMR][1000 genomes]
rs11039100	0.88[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039101	0.88[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039110	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039115	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039116	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039117	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039118	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039120	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039121	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039164	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11039168	1.00[CEU][hapmap]
rs11039170	1.00[CEU][hapmap]
rs11039205	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12361754	0.88[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12362071	0.88[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362696	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12362906	0.82[AMR][1000 genomes]
rs12363855	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366070	0.86[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791839	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792672	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12792905	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792952	0.88[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793142	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12794769	0.82[AMR][1000 genomes]
rs12796660	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12798822	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12798823	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470872	0.88[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470873	0.86[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047461	0.83[ASN][1000 genomes]
rs2047462	0.85[ASN][1000 genomes]
rs34037040	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34123108	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34161300	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34286221	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34317277	0.83[ASN][1000 genomes]
rs34818213	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34930440	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35466594	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35746872	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35863959	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35863965	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35916605	0.83[ASN][1000 genomes]
rs35990969	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280027	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4319539	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4474469	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61875914	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61875915	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61875921	0.88[ASN][1000 genomes]
rs72896130	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs968991	0.83[ASN][1000 genomes]
rs968992	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv553277	chr11:5722948-6010075	Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	esv1843296	chr11:5730377-5970717	Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv2758255	chr11:5730377-5970717	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv2759801	chr11:5730377-6007613	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv832058	chr11:5747594-5926814	Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
13	nsv896951	chr11:5773981-5832191	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	esv2757421	chr11:5776623-5842356	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv1837262	chr11:5808353-5830288	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 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	chr11:5828800-5832200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:5829400-5830200	Active TSS	Primary hematopoietic stem cells	blood
3	chr11:5829600-5830200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr11:5829600-5830200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:5829600-5830600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr11:5829600-5830600	Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr11:5829600-5830600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr11:5829600-5830600	Active TSS	Colon Smooth Muscle	Colon
9	chr11:5829600-5830600	Bivalent/Poised TSS	Fetal Kidney	kidney
10	chr11:5829600-5830800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr11:5829600-5830800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr11:5829600-5830800	Flanking Bivalent TSS/Enh	Dnd41	blood
13	chr11:5829800-5830200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:5829800-5830200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:5829800-5830200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:5829800-5830200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:5829800-5830200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:5829800-5830200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:5829800-5830200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:5829800-5830200	Active TSS	Aorta	Aorta
21	chr11:5829800-5830200	Flanking Active TSS	Fetal Heart	heart
22	chr11:5829800-5830200	Flanking Active TSS	Fetal Lung	lung
23	chr11:5829800-5830200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
24	chr11:5829800-5830200	Flanking Active TSS	Ovary	ovary
25	chr11:5829800-5830200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr11:5829800-5830200	Flanking Active TSS	Stomach Mucosa	stomach
27	chr11:5829800-5830200	Active TSS	Spleen	Spleen
28	chr11:5829800-5830200	Bivalent/Poised TSS	Hela-S3	cervix
29	chr11:5829800-5830200	Active TSS	NH-A	brain
30	chr11:5829800-5830200	Active TSS	Osteobl	bone
31	chr11:5829800-5830400	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:5829800-5830400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr11:5829800-5830400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:5829800-5830400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:5829800-5830400	Active TSS	H9 Cell Line	embryonic stem cell
36	chr11:5829800-5830400	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr11:5829800-5830400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr11:5829800-5830400	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr11:5829800-5830400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:5829800-5830400	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr11:5829800-5830400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:5829800-5830400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:5829800-5830400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr11:5829800-5830400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:5829800-5830400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:5829800-5830400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:5829800-5830400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr11:5829800-5830400	Flanking Active TSS	Liver	Liver
49	chr11:5829800-5830400	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
50	chr11:5829800-5830400	Flanking Active TSS	Brain Germinal Matrix	brain

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