Variant report

Variant	rs11679983
Chromosome Location	chr2:231084301-231084302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11687292	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11695193	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17263269	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17329429	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17329583	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56063375	1.00[ASN][1000 genomes]
rs56334214	0.84[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	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv584666	chr2:231050715-231106621	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231066200-231084400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:231068200-231084400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:231082200-231084400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:231082200-231084400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr2:231082400-231085200	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:231082600-231084400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr2:231082600-231085400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr2:231082600-231085400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr2:231082600-231085600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr2:231082800-231084400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr2:231082800-231084800	Active TSS	GM12878-XiMat	blood
12	chr2:231083000-231084800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:231083000-231085000	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr2:231083000-231085000	Active TSS	Muscle Satellite Cultured Cells	--
15	chr2:231083000-231085200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:231083000-231085200	Active TSS	Psoas Muscle	Psoas
17	chr2:231083000-231085200	Active TSS	Right Atrium	heart
18	chr2:231083000-231085400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:231083200-231084800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:231083200-231085000	Active TSS	Brain Hippocampus Middle	brain
21	chr2:231083200-231085200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:231083200-231085200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr2:231083200-231085400	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr2:231083200-231085400	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr2:231083200-231085600	Active TSS	Stomach Smooth Muscle	stomach
26	chr2:231083400-231085000	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr2:231083400-231085200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:231083400-231085200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr2:231083400-231085200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:231083400-231085200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:231083400-231085200	Active TSS	Colon Smooth Muscle	Colon
32	chr2:231083400-231085600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:231083600-231084800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr2:231083600-231084800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr2:231083600-231084800	Active TSS	Fetal Thymus	thymus
36	chr2:231083600-231085000	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr2:231083600-231085000	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr2:231083600-231085200	Active TSS	Thymus	Thymus
39	chr2:231083800-231084400	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr2:231083800-231084800	Active TSS	Primary B cells from peripheral blood	blood
41	chr2:231083800-231084800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:231083800-231084800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:231083800-231084800	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr2:231083800-231085000	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr2:231083800-231085200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr2:231083800-231085200	Active TSS	Ovary	ovary
47	chr2:231084000-231084400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:231084000-231084400	Active TSS	Fetal Brain Male	brain
49	chr2:231084000-231084600	Flanking Active TSS	HUVEC	blood vessel
50	chr2:231084000-231084800	Active TSS	Primary T cells fromperipheralblood	blood

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