Variant report

Variant	rs3856335
Chromosome Location	chr2:189649279-189649280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10084412	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10166484	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209411	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10804023	0.83[EUR][1000 genomes]
rs10804024	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10931381	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10931382	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1157434	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11679794	0.90[EUR][1000 genomes]
rs11686942	0.86[EUR][1000 genomes]
rs11891828	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11901929	0.82[EUR][1000 genomes]
rs11902285	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12185550	0.84[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12470289	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12617610	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12619491	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12620233	0.86[EUR][1000 genomes]
rs12624180	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12624203	0.89[EUR][1000 genomes]
rs12693513	0.83[EUR][1000 genomes]
rs12998848	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13001931	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13012958	0.80[EUR][1000 genomes]
rs13017203	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13020633	0.90[EUR][1000 genomes]
rs13024524	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13026165	0.90[EUR][1000 genomes]
rs1354907	0.84[EUR][1000 genomes]
rs1395864	0.84[EUR][1000 genomes]
rs1395865	0.84[EUR][1000 genomes]
rs1400946	0.86[EUR][1000 genomes]
rs1507554	0.84[EUR][1000 genomes]
rs1507555	0.82[EUR][1000 genomes]
rs1516449	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs1518006	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1518010	0.87[EUR][1000 genomes]
rs1518011	0.86[EUR][1000 genomes]
rs1518012	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1518013	0.90[EUR][1000 genomes]
rs1518014	0.90[EUR][1000 genomes]
rs1518016	0.83[EUR][1000 genomes]
rs1524375	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1568235	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1589133	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1605462	0.86[CHB][hapmap]
rs1607315	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17355585	1.00[JPT][hapmap]
rs1829305	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1848280	0.84[EUR][1000 genomes]
rs1850553	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1878650	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1995700	0.84[EUR][1000 genomes]
rs1995701	0.84[EUR][1000 genomes]
rs1995702	0.88[EUR][1000 genomes]
rs1996457	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1996987	0.84[EUR][1000 genomes]
rs2138959	0.90[EUR][1000 genomes]
rs2138960	0.89[EUR][1000 genomes]
rs2176501	0.86[EUR][1000 genomes]
rs2177544	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2351099	0.84[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2708209	1.00[JPT][hapmap]
rs34017611	0.91[EUR][1000 genomes]
rs4261667	0.89[EUR][1000 genomes]
rs4306657	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4666764	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667243	0.86[EUR][1000 genomes]
rs4667244	0.87[EUR][1000 genomes]
rs4667245	0.87[EUR][1000 genomes]
rs4667249	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6434294	0.84[EUR][1000 genomes]
rs6710589	0.90[EUR][1000 genomes]
rs6711038	0.90[EUR][1000 genomes]
rs6744781	0.86[EUR][1000 genomes]
rs6748400	0.89[EUR][1000 genomes]
rs6757283	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7583964	0.86[EUR][1000 genomes]
rs7587646	0.91[EUR][1000 genomes]
rs7587851	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7590689	0.91[EUR][1000 genomes]
rs7594142	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7598731	0.90[EUR][1000 genomes]
rs7600697	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs981265	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875606	chr2:189579045-189688463	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875607	chr2:189579045-189711790	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189631600-189650000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:189642400-189650000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:189645200-189650000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:189646200-189650400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:189646400-189650400	Weak transcription	Fetal Heart	heart
6	chr2:189648400-189650400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:189648400-189650800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:189648400-189651200	Enhancers	Osteobl	bone
9	chr2:189648400-189653400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:189648600-189649400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:189648600-189649400	Enhancers	NH-A	brain
12	chr2:189648600-189651600	Enhancers	NHDF-Ad	bronchial
13	chr2:189649000-189651400	Weak transcription	A549	lung
14	chr2:189649000-189652800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:189649200-189649600	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:189649200-189649800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:189649200-189650200	Weak transcription	NHLF	lung
18	chr2:189649200-189650400	Weak transcription	HSMM	muscle
19	chr2:189649200-189651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:189649200-189651200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:189649200-189651200	Weak transcription	HMEC	breast

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