Variant report

Variant	rs11684869
Chromosome Location	chr2:190023176-190023177
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10497699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931402	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931406	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931410	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11675295	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676812	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11677073	0.87[ASN][1000 genomes]
rs11678388	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11681937	0.87[ASN][1000 genomes]
rs11684417	0.87[ASN][1000 genomes]
rs11687908	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11690774	0.92[EUR][1000 genomes]
rs11693810	0.87[ASN][1000 genomes]
rs11695837	0.86[EUR][1000 genomes]
rs12472232	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1515873	0.82[ASN][1000 genomes]
rs1515875	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1519185	0.87[ASN][1000 genomes]
rs1520862	0.87[ASN][1000 genomes]
rs17198773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198780	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17198787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17198815	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17198829	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270952	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17270966	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17270973	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17270987	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17271008	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17271015	0.87[ASN][1000 genomes]
rs1996576	0.87[ASN][1000 genomes]
rs2683013	0.87[ASN][1000 genomes]
rs2683014	0.87[ASN][1000 genomes]
rs28413975	0.81[ASN][1000 genomes]
rs35598715	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55726777	0.84[ASN][1000 genomes]
rs55851872	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56252219	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56381644	0.81[ASN][1000 genomes]
rs59031473	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61130121	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61528955	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62182060	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62182061	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62182066	0.87[ASN][1000 genomes]
rs62182068	0.87[ASN][1000 genomes]
rs62182069	0.87[ASN][1000 genomes]
rs62182415	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182420	0.82[EUR][1000 genomes]
rs62182421	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182454	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62182457	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62182458	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62182459	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62183794	1.00[ASN][1000 genomes]
rs62183841	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183844	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183845	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183846	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62183847	0.83[EUR][1000 genomes]
rs62183848	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72908368	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72908382	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72910347	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72910360	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72912280	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72912286	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72914135	0.82[ASN][1000 genomes]
rs72914141	0.87[ASN][1000 genomes]
rs7564429	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7586853	0.88[EUR][1000 genomes];0.94[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	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr2:190015200-190026600	Weak transcription	Liver	Liver
2	chr2:190016000-190028200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:190016200-190027000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:190017400-190023200	Weak transcription	HSMMtube	muscle
5	chr2:190017600-190028800	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:190018600-190024000	Weak transcription	Adipose Nuclei	Adipose
7	chr2:190018800-190023800	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:190018800-190029600	Weak transcription	Ovary	ovary
9	chr2:190019400-190027000	Weak transcription	Fetal Stomach	stomach
10	chr2:190019400-190028400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:190019600-190025200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:190019600-190040000	Weak transcription	Fetal Intestine Small	intestine
13	chr2:190020200-190024000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:190020400-190024200	Enhancers	Osteobl	bone
15	chr2:190021000-190024000	Weak transcription	Fetal Lung	lung
16	chr2:190021000-190026600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:190021000-190028000	Weak transcription	Fetal Heart	heart
18	chr2:190021000-190031400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:190021400-190024200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:190021400-190025200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:190021400-190025400	Enhancers	A549	lung
22	chr2:190021600-190023400	Enhancers	NH-A	brain
23	chr2:190021600-190024200	Enhancers	Rectal Smooth Muscle	rectum
24	chr2:190022000-190024200	Enhancers	NHDF-Ad	bronchial
25	chr2:190022200-190023200	Enhancers	HUVEC	blood vessel
26	chr2:190022200-190024400	Enhancers	NHLF	lung
27	chr2:190022200-190025200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:190022200-190025600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:190022600-190023800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:190022800-190024800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:190022800-190026200	Weak transcription	HSMM	muscle

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