Variant report

Variant	rs3845697
Chromosome Location	chr2:180798553-180798554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1046356	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10497555	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12613483	1.00[ASN][1000 genomes]
rs12618422	0.96[ASN][1000 genomes]
rs12621365	0.96[ASN][1000 genomes]
rs12623020	0.96[ASN][1000 genomes]
rs12693216	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16823586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16867114	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16867119	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16867125	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16867133	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16867136	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16867140	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2367990	0.88[LWK][hapmap]
rs259808	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs262279	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3738943	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3768837	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3768839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3845695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3845702	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3907347	1.00[ASN][1000 genomes]
rs3912257	0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3914458	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4893886	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56213876	0.89[ASN][1000 genomes]
rs6433822	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6726846	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6733426	0.88[LWK][hapmap]
rs72958832	0.96[ASN][1000 genomes]
rs72958838	0.95[ASN][1000 genomes]
rs72958887	0.93[ASN][1000 genomes]
rs72960663	0.95[ASN][1000 genomes]
rs72960669	0.94[ASN][1000 genomes]
rs72960671	0.94[ASN][1000 genomes]
rs72960679	0.92[ASN][1000 genomes]
rs818659	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9989852	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv521134	chr2:180746041-180848488	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006598	chr2:180766983-180923051	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv531444	chr2:180796233-181434590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180783800-180811800	Weak transcription	Left Ventricle	heart
2	chr2:180792000-180816400	Weak transcription	Aorta	Aorta
3	chr2:180792200-180800600	Weak transcription	Psoas Muscle	Psoas
4	chr2:180792800-180808400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:180793200-180809400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:180794800-180810000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:180795400-180808000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:180795800-180807000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:180795800-180809400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:180796000-180807400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:180796000-180810600	Weak transcription	Fetal Intestine Small	intestine
12	chr2:180796200-180809200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:180796400-180803200	Weak transcription	GM12878-XiMat	blood
14	chr2:180796400-180808600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:180796400-180809800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:180796400-180815000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:180796600-180809800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:180796600-180810200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:180797000-180800800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:180797000-180808400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:180797000-180808800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:180797000-180810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:180797000-180815800	Weak transcription	Right Ventricle	heart
24	chr2:180797200-180808800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:180797400-180800200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:180797400-180808600	Weak transcription	HSMM	muscle
27	chr2:180797400-180809600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:180797400-180815200	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:180797600-180798600	Strong transcription	Primary B cells from cord blood	blood
30	chr2:180797600-180799400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:180797600-180804400	Strong transcription	Primary T cells from cord blood	blood
32	chr2:180797800-180798600	Strong transcription	Adipose Nuclei	Adipose
33	chr2:180797800-180798600	Enhancers	Fetal Heart	heart
34	chr2:180797800-180799600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:180797800-180799800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:180797800-180809800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:180797800-180811400	Weak transcription	Fetal Lung	lung
38	chr2:180797800-180818200	Weak transcription	Esophagus	oesophagus
39	chr2:180798000-180798600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:180798000-180801800	Weak transcription	Right Atrium	heart
41	chr2:180798000-180807400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:180798000-180808200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:180798000-180809200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:180798000-180809400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:180798000-180809800	Weak transcription	Fetal Intestine Large	intestine
46	chr2:180798000-180813800	Weak transcription	Brain Angular Gyrus	brain
47	chr2:180798000-180814200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:180798000-180816200	Weak transcription	Pancreas	Pancrea
49	chr2:180798200-180801200	Weak transcription	Liver	Liver
50	chr2:180798200-180807400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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