Variant report

Variant	rs9630215
Chromosome Location	chr11:63709139-63709140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
2	chr11:63706123..63708647-chr11:63708670..63712946,5	MCF-7	breast:
3	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
4	chr11:63708040..63711029-chr11:63752724..63754511,2	K562	blood:
5	chr11:63708455..63711957-chr11:63724529..63727502,3	K562	blood:
6	chr11:63708705..63711538-chr11:63713648..63715559,2	K562	blood:

Variant related genes	Relation type
ENSG00000167771	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000110583	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10897460	1.00[EUR][1000 genomes]
rs11231632	1.00[EUR][1000 genomes]
rs11231634	1.00[EUR][1000 genomes]
rs11231665	1.00[AMR][1000 genomes]
rs11231673	1.00[AMR][1000 genomes]
rs11494059	0.83[AMR][1000 genomes]
rs12099085	1.00[EUR][1000 genomes]
rs12271959	1.00[EUR][1000 genomes]
rs12277386	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12277838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285283	1.00[AMR][1000 genomes]
rs12288290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12291042	1.00[EUR][1000 genomes]
rs12295918	1.00[EUR][1000 genomes]
rs13377315	1.00[EUR][1000 genomes]
rs17403349	1.00[AMR][1000 genomes]
rs320110	1.00[EUR][1000 genomes]
rs34689425	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56217591	1.00[AMR][1000 genomes]
rs57219930	1.00[EUR][1000 genomes]
rs57864399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57868637	1.00[AMR][1000 genomes]
rs58678024	1.00[EUR][1000 genomes]
rs59423787	1.00[EUR][1000 genomes]
rs59502039	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59642000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60107756	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61475860	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61653882	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110433	1.00[EUR][1000 genomes]
rs7929867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7933899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938631	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948681	1.00[EUR][1000 genomes]
rs7952003	1.00[EUR][1000 genomes]
rs9326430	1.00[AMR][1000 genomes]
rs9630214	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9888136	1.00[EUR][1000 genomes]
rs9888177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS 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	39 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63707200-63724200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63707400-63709200	Enhancers	Primary B cells from peripheral blood	blood
3	chr11:63707400-63709600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:63707400-63710600	Weak transcription	Psoas Muscle	Psoas
5	chr11:63707400-63712400	Weak transcription	Esophagus	oesophagus
6	chr11:63707400-63712400	Weak transcription	Ovary	ovary
7	chr11:63707400-63712400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:63707400-63712600	Weak transcription	Aorta	Aorta
9	chr11:63707400-63713400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:63707400-63713800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:63707400-63713800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:63707400-63719600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:63707400-63721400	Weak transcription	Small Intestine	intestine
14	chr11:63707600-63709400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:63707600-63709400	Enhancers	Primary B cells from cord blood	blood
16	chr11:63707600-63710200	Weak transcription	Fetal Intestine Large	intestine
17	chr11:63707600-63710200	Weak transcription	Thymus	Thymus
18	chr11:63707600-63710600	Weak transcription	Right Atrium	heart
19	chr11:63707600-63711000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:63707600-63711400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:63707600-63711800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:63707600-63711800	Weak transcription	NHLF	lung
23	chr11:63707600-63712000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:63707600-63712400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:63707600-63712400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:63707600-63712400	Weak transcription	Liver	Liver
27	chr11:63707600-63712400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:63707600-63712400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:63707600-63712400	Weak transcription	Osteobl	bone
30	chr11:63707600-63712600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:63707600-63713000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:63707600-63713200	Weak transcription	Fetal Kidney	kidney
33	chr11:63707600-63713200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr11:63707600-63713600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:63707600-63713800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr11:63707600-63713800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:63707600-63719400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:63707600-63720200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:63707800-63709200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr11:63707800-63709200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:63707800-63709400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:63707800-63709400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:63707800-63709600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:63707800-63709600	Weak transcription	Fetal Stomach	stomach
45	chr11:63707800-63709800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:63707800-63710000	Weak transcription	Fetal Intestine Small	intestine
47	chr11:63707800-63710600	Weak transcription	Right Ventricle	heart
48	chr11:63707800-63713000	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:63707800-63719200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:63707800-63719600	Weak transcription	Lung	lung

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