Variant report

Variant	rs11691332
Chromosome Location	chr2:190388444-190388445
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190386851..190389164-chr2:190404426..190407067,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10189190	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10202029	1.00[JPT][hapmap]
rs10206543	0.82[CHB][hapmap]
rs11674773	1.00[JPT][hapmap]
rs11677198	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677494	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs11680808	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11682165	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs11685775	1.00[JPT][hapmap]
rs11694976	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12465339	1.00[JPT][hapmap]
rs13007486	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13018571	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13027987	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029665	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13032311	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1371468	0.82[CHB][hapmap]
rs1371469	0.82[CHB][hapmap]
rs1469967	0.87[AMR][1000 genomes]
rs17198934	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17198955	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17271134	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2119070	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35000023	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35078179	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35209105	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35574177	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4277558	1.00[JPT][hapmap]
rs62184660	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726093	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190380400-190391800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:190384400-190389400	Enhancers	Liver	Liver
3	chr2:190384400-190390000	Enhancers	Fetal Intestine Large	intestine
4	chr2:190384400-190390000	Enhancers	Fetal Intestine Small	intestine
5	chr2:190384800-190393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:190386000-190388600	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:190386000-190389200	Enhancers	Stomach Mucosa	stomach
8	chr2:190386600-190398200	Weak transcription	Aorta	Aorta
9	chr2:190386800-190389200	Weak transcription	Colonic Mucosa	Colon
10	chr2:190387600-190389600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr2:190387600-190391800	Weak transcription	HSMM	muscle
12	chr2:190387600-190392000	Weak transcription	Pancreas	Pancrea
13	chr2:190387600-190393400	Weak transcription	Right Atrium	heart
14	chr2:190387600-190397000	Weak transcription	Placenta	Placenta
15	chr2:190387800-190389800	Enhancers	HepG2	liver
16	chr2:190387800-190391400	Weak transcription	Fetal Kidney	kidney
17	chr2:190387800-190391600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:190387800-190391800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:190387800-190392000	Weak transcription	Brain Substantia Nigra	brain
20	chr2:190387800-190392000	Weak transcription	Fetal Heart	heart
21	chr2:190388000-190389000	Weak transcription	Small Intestine	intestine
22	chr2:190388000-190390000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr2:190388000-190391400	Weak transcription	Adipose Nuclei	Adipose
24	chr2:190388000-190391400	Weak transcription	Fetal Lung	lung
25	chr2:190388000-190391600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:190388000-190391600	Weak transcription	Ovary	ovary
27	chr2:190388000-190391800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:190388000-190391800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:190388000-190391800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:190388000-190392000	Weak transcription	HSMMtube	muscle
31	chr2:190388200-190391800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:190388200-190391800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:190388400-190391600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:190388400-190393000	Weak transcription	A549	lung

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