Variant report

Variant	rs45504994
Chromosome Location	chr2:37138465-37138466
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10193295	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10490657	0.80[ASN][1000 genomes]
rs11124554	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11124555	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11681167	0.85[AMR][1000 genomes]
rs11695609	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12476515	0.82[ASN][1000 genomes]
rs13418962	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17497343	0.83[ASN][1000 genomes]
rs2003585	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2110994	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2372785	0.83[AMR][1000 genomes]
rs2372786	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2691106	0.81[ASN][1000 genomes]
rs2691112	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2717493	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28527412	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3770774	0.84[EUR][1000 genomes]
rs3770776	0.85[AMR][1000 genomes]
rs3845778	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3845780	0.86[EUR][1000 genomes]
rs4016033	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4016036	0.82[EUR][1000 genomes]
rs4389320	0.81[ASN][1000 genomes]
rs4670637	0.82[ASN][1000 genomes]
rs57747847	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62132550	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7561572	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7573966	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7588378	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7592902	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7605601	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
2	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
7	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:37099200-37140200	Weak transcription	Colonic Mucosa	Colon
9	chr2:37103800-37146200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:37105000-37152600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:37105000-37164600	Weak transcription	Lung	lung
12	chr2:37105200-37139200	Weak transcription	Aorta	Aorta
13	chr2:37105200-37141200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:37105200-37144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:37105200-37154400	Weak transcription	Esophagus	oesophagus
16	chr2:37105200-37157800	Weak transcription	Pancreas	Pancrea
17	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
18	chr2:37105800-37146400	Weak transcription	Right Ventricle	heart
19	chr2:37110800-37142800	Weak transcription	Gastric	stomach
20	chr2:37111200-37140600	Weak transcription	Fetal Brain Female	brain
21	chr2:37111600-37139200	Weak transcription	Ovary	ovary
22	chr2:37112400-37145800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:37114000-37145800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:37117400-37139400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:37117400-37144400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:37117600-37139800	Weak transcription	HSMM	muscle
27	chr2:37117600-37153600	Weak transcription	Hela-S3	cervix
28	chr2:37118000-37139200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:37118000-37139600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:37118000-37139800	Weak transcription	HUVEC	blood vessel
31	chr2:37118000-37140000	Weak transcription	NHEK	skin
32	chr2:37118000-37140200	Weak transcription	HMEC	breast
33	chr2:37118200-37139200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:37118200-37139800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:37119600-37139000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:37119600-37139200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:37119600-37139200	Weak transcription	Osteobl	bone
38	chr2:37119600-37140000	Weak transcription	GM12878-XiMat	blood
39	chr2:37119800-37142200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:37120000-37139200	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:37120000-37139800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:37120000-37153800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:37120200-37142600	Weak transcription	K562	blood
44	chr2:37120200-37149200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:37120600-37168000	Weak transcription	Thymus	Thymus
46	chr2:37120800-37166400	Weak transcription	Placenta	Placenta
47	chr2:37121000-37139400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:37121000-37145200	Weak transcription	Fetal Lung	lung
49	chr2:37121200-37139200	Weak transcription	Dnd41	blood
50	chr2:37121200-37139400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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