Variant report

Variant	rs11679564
Chromosome Location	chr2:37158384-37158385
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10193295	0.85[ASN][1000 genomes]
rs10490657	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11124554	0.82[ASN][1000 genomes]
rs11124555	0.85[ASN][1000 genomes]
rs11695609	0.85[ASN][1000 genomes]
rs17497343	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2110994	0.85[ASN][1000 genomes]
rs2372786	0.91[ASN][1000 genomes]
rs4016036	0.81[ASN][1000 genomes]
rs4389320	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4670637	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4670638	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62133068	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7561572	0.81[ASN][1000 genomes]
rs7573966	0.81[ASN][1000 genomes]
rs7588378	0.81[ASN][1000 genomes]
rs7605601	0.87[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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv962523	chr2:37143222-37171714	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv828942	chr2:37155968-37162931	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37105000-37164600	Weak transcription	Lung	lung
2	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
3	chr2:37120600-37168000	Weak transcription	Thymus	Thymus
4	chr2:37120800-37166400	Weak transcription	Placenta	Placenta
5	chr2:37132400-37192400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:37134600-37192400	Weak transcription	Fetal Stomach	stomach
7	chr2:37136400-37178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:37138600-37160600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:37142000-37178400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:37142000-37178800	Weak transcription	Primary B cells from cord blood	blood
11	chr2:37143400-37191000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:37143800-37191800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:37150200-37191800	Weak transcription	Fetal Thymus	thymus
14	chr2:37152200-37164200	Weak transcription	Fetal Intestine Small	intestine
15	chr2:37152400-37177800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:37152400-37191800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:37153800-37160800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:37153800-37166800	Weak transcription	Brain Substantia Nigra	brain
19	chr2:37154000-37178400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:37154200-37177600	Weak transcription	Primary T cells from cord blood	blood
21	chr2:37154200-37179400	Weak transcription	Brain Anterior Caudate	brain
22	chr2:37154400-37158400	Weak transcription	Hela-S3	cervix
23	chr2:37154600-37178800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:37154600-37179000	Weak transcription	Esophagus	oesophagus
25	chr2:37154600-37191800	Weak transcription	Fetal Intestine Large	intestine
26	chr2:37154800-37178200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:37154800-37178800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:37154800-37185600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:37155000-37183600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:37157200-37159200	Enhancers	HUVEC	blood vessel
31	chr2:37157600-37158400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:37157600-37158400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:37157600-37158600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:37157600-37158600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:37157600-37158800	Enhancers	Osteobl	bone
36	chr2:37157600-37159000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:37157600-37159200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:37157800-37158400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:37157800-37158400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:37157800-37158600	Enhancers	A549	lung
41	chr2:37157800-37158600	Enhancers	K562	blood
42	chr2:37157800-37158800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:37157800-37158800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:37157800-37159200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:37157800-37159200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:37157800-37159200	Enhancers	Fetal Heart	heart
47	chr2:37158000-37158400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr2:37158000-37158400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:37158000-37158400	Enhancers	Adipose Nuclei	Adipose
50	chr2:37158000-37158400	Enhancers	Colon Smooth Muscle	Colon

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