Variant report

Variant	rs10208199
Chromosome Location	chr2:33550206-33550207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33549576..33552189-chr2:33559764..33561623,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10451637	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11124312	0.84[CEU][hapmap];0.82[CHB][hapmap]
rs13389157	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13430506	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2167972	0.87[CHB][hapmap];0.89[CHD][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs3754829	0.81[CEU][hapmap];0.82[TSI][hapmap]
rs41464348	0.88[CEU][hapmap];0.87[CHB][hapmap];0.93[GIH][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs6735659	0.81[EUR][1000 genomes]
rs6740415	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6740443	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6740448	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7558136	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7558632	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7575377	0.88[CEU][hapmap];0.87[CHB][hapmap];0.91[GIH][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs7595330	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs817535	0.83[TSI][hapmap]
rs877672	0.81[CEU][hapmap];0.82[TSI][hapmap]
rs935996	0.88[CEU][hapmap];0.95[GIH][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs9678322	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv963908	chr2:33547438-33552765	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 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	chr2:33523800-33550600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:33529800-33561000	Weak transcription	HUVEC	blood vessel
3	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
4	chr2:33540800-33580800	Weak transcription	Placenta	Placenta
5	chr2:33542000-33572200	Weak transcription	Liver	Liver
6	chr2:33545400-33551800	Weak transcription	Right Atrium	heart
7	chr2:33547200-33567200	Weak transcription	NH-A	brain
8	chr2:33547600-33560800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:33547600-33567200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:33547600-33579800	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:33547800-33581000	Weak transcription	Fetal Lung	lung
12	chr2:33548000-33559000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:33548000-33559000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:33548000-33567200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:33548200-33559000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:33548200-33562000	Weak transcription	NHDF-Ad	bronchial
17	chr2:33548200-33562200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:33548200-33565400	Weak transcription	NHLF	lung
19	chr2:33548200-33588400	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:33548800-33567000	Weak transcription	Left Ventricle	heart
21	chr2:33549000-33588800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:33549200-33551200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:33549200-33560200	Weak transcription	Osteobl	bone
24	chr2:33549200-33563200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:33549200-33563600	Weak transcription	Aorta	Aorta
26	chr2:33549200-33565400	Weak transcription	Ovary	ovary
27	chr2:33549200-33567800	Weak transcription	Fetal Heart	heart
28	chr2:33550000-33550600	Enhancers	Fetal Stomach	stomach
29	chr2:33550000-33551400	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:33550000-33553400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:33550200-33551800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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