Variant report

Variant	rs17334303
Chromosome Location	chr2:187546706-187546707
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	chr2:187543296..187546099-chr2:187546691..187548882,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10171481	0.84[CHB][hapmap]
rs10804007	0.82[CHB][hapmap]
rs11678190	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11683898	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11685758	1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615659	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998294	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13001028	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006483	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13006571	0.82[CHB][hapmap]
rs13016261	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028817	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030356	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs1448424	0.91[CHB][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17334422	0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17406339	0.91[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs1839121	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1839123	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839124	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1992898	0.82[CHB][hapmap]
rs2084448	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165656	0.84[CHB][hapmap]
rs2197138	0.82[CHB][hapmap]
rs2197787	0.81[CHB][hapmap]
rs2370693	0.82[CHB][hapmap]
rs2595375	0.82[CHB][hapmap]
rs2887827	0.82[CHB][hapmap]
rs34483988	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34521209	0.92[ASN][1000 genomes]
rs34980163	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35055112	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35251833	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36117902	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3768778	0.82[CHB][hapmap]
rs3768780	0.84[CHB][hapmap]
rs3816386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3911084	0.82[CHB][hapmap]
rs4233788	0.82[CHB][hapmap]
rs56136540	0.84[ASN][1000 genomes]
rs58644770	0.85[ASN][1000 genomes]
rs6717512	0.90[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6741369	0.82[CHB][hapmap]
rs6748509	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6753438	0.86[EUR][1000 genomes]
rs7419327	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7575516	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7589470	0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs7593018	0.85[JPT][hapmap]
rs7596996	0.84[CHB][hapmap]
rs9333287	0.84[CHB][hapmap]
rs9333288	0.82[CHB][hapmap]
rs9333289	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes]
rs9333290	0.96[EUR][1000 genomes]
rs9789682	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs998972	1.00[CHB][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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187501000-187548400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:187513800-187546800	Strong transcription	NH-A	brain
3	chr2:187518800-187547200	Strong transcription	HUVEC	blood vessel
4	chr2:187523000-187546800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:187528000-187548000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:187529000-187548200	Weak transcription	Stomach Mucosa	stomach
7	chr2:187536200-187546800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:187536200-187548200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:187536400-187550000	Weak transcription	Gastric	stomach
10	chr2:187537600-187547400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:187538000-187547200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:187538000-187548400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:187538200-187547800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:187538200-187552800	Weak transcription	Brain Substantia Nigra	brain
15	chr2:187538600-187547000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:187539200-187557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:187539400-187548400	Weak transcription	Spleen	Spleen
18	chr2:187540000-187548600	Weak transcription	Fetal Kidney	kidney
19	chr2:187540400-187548200	Weak transcription	GM12878-XiMat	blood
20	chr2:187541400-187548600	Weak transcription	Colonic Mucosa	Colon
21	chr2:187541600-187548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:187541600-187550800	Weak transcription	Lung	lung
23	chr2:187541800-187548200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:187541800-187548200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:187541800-187548400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:187541800-187548400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:187541800-187548600	Weak transcription	Fetal Intestine Small	intestine
28	chr2:187541800-187550400	Weak transcription	Fetal Stomach	stomach
29	chr2:187541800-187552800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:187541800-187558400	Weak transcription	Left Ventricle	heart
31	chr2:187542000-187547800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:187542000-187549600	Weak transcription	Right Ventricle	heart
33	chr2:187542000-187550200	Weak transcription	Aorta	Aorta
34	chr2:187542000-187550200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:187542000-187555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:187542200-187547800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:187542400-187548000	Weak transcription	HepG2	liver
38	chr2:187542400-187548200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:187542600-187546800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:187542600-187547800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:187542600-187548000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:187542600-187549000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:187543200-187549000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:187543400-187549600	Weak transcription	Fetal Intestine Large	intestine
45	chr2:187543400-187558200	Weak transcription	NHDF-Ad	bronchial
46	chr2:187543600-187547800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:187543600-187548000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:187543600-187548000	Weak transcription	Fetal Lung	lung
49	chr2:187543600-187548200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:187543600-187548400	Weak transcription	Liver	Liver

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