Variant report

Variant	rs11694630
Chromosome Location	chr2:32376201-32376202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32375821..32378690-chr2:32383095..32385138,2	K562	blood:
2	chr2:32375856..32378077-chr2:32380295..32382033,2	MCF-7	breast:
3	chr2:32288902..32290872-chr2:32375784..32377323,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10208246	0.93[ASN][1000 genomes]
rs11124275	0.83[AFR][1000 genomes]
rs11124278	0.90[ASN][1000 genomes]
rs11678119	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11681731	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11683760	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11683842	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11683931	0.83[AFR][1000 genomes]
rs11689817	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12465124	0.83[ASN][1000 genomes]
rs12465351	0.86[ASN][1000 genomes]
rs12474443	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12474598	0.87[ASN][1000 genomes]
rs12611678	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12614686	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12617289	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12617290	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12618002	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12995952	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12997026	0.89[ASN][1000 genomes]
rs13007972	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13008192	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13022197	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13427170	0.89[ASN][1000 genomes]
rs212703	0.83[ASN][1000 genomes]
rs212738	0.89[ASN][1000 genomes]
rs212739	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs212746	0.91[AFR][1000 genomes]
rs212760	0.81[AFR][1000 genomes]
rs2280973	0.97[ASN][1000 genomes]
rs2294176	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2294179	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2365558	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2886393	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34976640	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35641550	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36014814	0.84[AFR][1000 genomes]
rs3752916	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3752917	0.84[ASN][1000 genomes]
rs3769602	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769603	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3769606	0.83[AFR][1000 genomes]
rs3851308	0.84[ASN][1000 genomes]
rs3851310	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4258846	0.87[ASN][1000 genomes]
rs4407291	0.92[ASN][1000 genomes]
rs4519572	0.92[ASN][1000 genomes]
rs4952209	0.93[ASN][1000 genomes]
rs4952249	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4952250	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4952252	0.95[ASN][1000 genomes]
rs56208031	0.86[ASN][1000 genomes]
rs6543649	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6716179	0.89[ASN][1000 genomes]
rs6717209	0.89[ASN][1000 genomes]
rs6723154	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6725184	0.85[AFR][1000 genomes]
rs6761417	0.86[ASN][1000 genomes]
rs7566162	0.82[AFR][1000 genomes]
rs7572964	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7573543	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7577408	0.85[AFR][1000 genomes]
rs7581032	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7581340	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7581432	0.86[ASN][1000 genomes]
rs7588883	0.89[ASN][1000 genomes]
rs7592239	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7592356	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7604289	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][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	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32309800-32381200	Weak transcription	NHDF-Ad	bronchial
2	chr2:32331600-32377400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:32331600-32390200	Weak transcription	Gastric	stomach
4	chr2:32331600-32390200	Weak transcription	Pancreas	Pancrea
5	chr2:32331800-32376400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:32332800-32389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:32333000-32389800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:32342200-32389800	Weak transcription	Aorta	Aorta
9	chr2:32344200-32389600	Weak transcription	HMEC	breast
10	chr2:32354600-32390200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:32354800-32389600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:32355000-32389800	Weak transcription	Brain Substantia Nigra	brain
13	chr2:32355000-32390200	Weak transcription	Small Intestine	intestine
14	chr2:32355200-32383600	Weak transcription	HSMMtube	muscle
15	chr2:32355400-32389800	Weak transcription	HUVEC	blood vessel
16	chr2:32355600-32389600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:32355600-32389800	Weak transcription	Spleen	Spleen
18	chr2:32356200-32380400	Weak transcription	Colonic Mucosa	Colon
19	chr2:32356400-32383200	Weak transcription	K562	blood
20	chr2:32357400-32389800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:32360000-32390200	Weak transcription	Ovary	ovary
22	chr2:32361000-32377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:32361000-32377600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:32361000-32389800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:32361200-32381800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:32361200-32383800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:32361200-32389600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:32361200-32389600	Weak transcription	NHEK	skin
29	chr2:32361200-32389600	Weak transcription	Osteobl	bone
30	chr2:32361400-32389600	Weak transcription	Fetal Heart	heart
31	chr2:32361400-32389600	Weak transcription	Hela-S3	cervix
32	chr2:32361600-32389600	Weak transcription	NH-A	brain
33	chr2:32363200-32389600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:32363400-32376600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:32363400-32386200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:32363400-32389800	Weak transcription	Fetal Kidney	kidney
37	chr2:32363600-32379600	Weak transcription	Fetal Brain Male	brain
38	chr2:32363600-32389800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:32364200-32378800	Weak transcription	HSMM	muscle
40	chr2:32365000-32389800	Weak transcription	Brain Anterior Caudate	brain
41	chr2:32366600-32377600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:32366600-32378000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:32367200-32389800	Weak transcription	Fetal Lung	lung
44	chr2:32367400-32379400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:32367600-32377600	Strong transcription	Fetal Stomach	stomach
46	chr2:32367600-32379000	Strong transcription	Fetal Intestine Small	intestine
47	chr2:32367800-32389800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:32368200-32383000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:32368400-32379400	Weak transcription	A549	lung
50	chr2:32369800-32389200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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