Variant report

Variant	rs11695831
Chromosome Location	chr2:12186655-12186656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11675258	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11675302	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35763905	0.81[ASN][1000 genomes]
rs41417950	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55824035	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56139916	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58281155	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6744880	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72777651	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000696	chr2:12162843-12241022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12181600-12193200	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:12182600-12189200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:12182600-12189400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:12183200-12186800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:12183600-12187000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:12183600-12189400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:12184000-12187200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:12184200-12190400	Weak transcription	K562	blood
9	chr2:12184600-12187000	Flanking Active TSS	GM12878-XiMat	blood
10	chr2:12185000-12187400	Enhancers	Fetal Brain Male	brain
11	chr2:12185400-12187000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:12185400-12187000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:12185400-12189200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:12185400-12190400	Weak transcription	Dnd41	blood
15	chr2:12185600-12186800	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr2:12185600-12187600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:12185600-12187600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:12185600-12189400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:12185600-12190400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:12185600-12191200	Enhancers	Primary B cells from cord blood	blood
21	chr2:12185800-12187000	Enhancers	Fetal Muscle Leg	muscle
22	chr2:12185800-12187200	Enhancers	Primary T cells from cord blood	blood
23	chr2:12185800-12188800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:12185800-12189200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:12185800-12190200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:12186000-12187000	Enhancers	Colonic Mucosa	Colon
27	chr2:12186000-12187200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:12186000-12187800	Enhancers	HSMM	muscle
29	chr2:12186000-12188000	Enhancers	HSMMtube	muscle
30	chr2:12186000-12188800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:12186000-12189000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:12186200-12186800	Enhancers	Adipose Nuclei	Adipose
33	chr2:12186400-12186800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:12186400-12186800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:12186400-12186800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:12186400-12186800	Enhancers	Spleen	Spleen
37	chr2:12186400-12186800	Flanking Active TSS	NHDF-Ad	bronchial
38	chr2:12186400-12187000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:12186400-12187000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:12186400-12187000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:12186400-12187000	Enhancers	Placenta	Placenta
42	chr2:12186400-12187000	Enhancers	NHEK	skin
43	chr2:12186400-12187000	Enhancers	NHLF	lung
44	chr2:12186400-12187200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:12186400-12187400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:12186400-12187400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:12186400-12187600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr2:12186400-12187600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:12186400-12187600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:12186400-12188000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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