Variant report

Variant	rs2118171
Chromosome Location	chr3:100594684-100594685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1017438	0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715875	0.87[ASN][1000 genomes]
rs11720318	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13079711	0.88[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1816567	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1821794	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1836987	0.87[ASN][1000 genomes]
rs2118170	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4928057	0.87[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs62277104	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778625	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs68184622	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9290245	0.91[CHB][hapmap]
rs9878937	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv514163	chr3:100547342-100670846	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100583400-100597400	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:100583800-100603400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:100589200-100597600	Weak transcription	Adipose Nuclei	Adipose
4	chr3:100589200-100599000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:100593200-100601600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:100593600-100594800	Enhancers	HUVEC	blood vessel
7	chr3:100593600-100595400	Enhancers	Osteobl	bone
8	chr3:100593600-100596800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:100593800-100594800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:100594000-100594800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:100594000-100594800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:100594000-100594800	Enhancers	Fetal Stomach	stomach
13	chr3:100594000-100594800	Enhancers	NHEK	skin
14	chr3:100594000-100595000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:100594000-100595200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:100594200-100594800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:100594200-100594800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:100594200-100594800	Enhancers	NH-A	brain
19	chr3:100594200-100594800	Enhancers	NHDF-Ad	bronchial
20	chr3:100594400-100594800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr3:100594400-100594800	Enhancers	Hela-S3	cervix
22	chr3:100594400-100598000	Weak transcription	Brain Anterior Caudate	brain
23	chr3:100594400-100599000	Weak transcription	Psoas Muscle	Psoas
24	chr3:100594400-100618200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:100594600-100596400	Weak transcription	Small Intestine	intestine
26	chr3:100594600-100597400	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:100594600-100597800	Weak transcription	Fetal Lung	lung
28	chr3:100594600-100597800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:100594600-100598600	Weak transcription	HSMMtube	muscle
30	chr3:100594600-100598800	Weak transcription	NHLF	lung
31	chr3:100594600-100616800	Weak transcription	Ovary	ovary

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