Variant report

Variant	rs2357208
Chromosome Location	chr2:172795560-172795561
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	chr2:172788825..172792438-chr2:172794169..172796469,4	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10177679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179020	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10188587	0.84[ASN][1000 genomes]
rs10191399	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10196521	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10201520	0.84[EUR][1000 genomes]
rs1022358	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10432474	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10439296	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10930497	1.00[CEU][hapmap]
rs10930498	0.84[ASN][1000 genomes]
rs10930500	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10930501	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1105264	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11676484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11677573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11683436	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11692418	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11695887	0.84[ASN][1000 genomes]
rs11883977	0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11903123	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11903410	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12467010	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12468218	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12471160	0.81[EUR][1000 genomes]
rs12473516	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12478215	0.84[ASN][1000 genomes]
rs12479374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12617265	1.00[JPT][hapmap]
rs12619137	1.00[JPT][hapmap]
rs12692979	1.00[JPT][hapmap]
rs13012103	0.84[EUR][1000 genomes]
rs13017988	1.00[JPT][hapmap]
rs13031370	0.88[AMR][1000 genomes]
rs13399316	0.88[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400816	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1443699	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1443700	1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1517678	0.81[EUR][1000 genomes]
rs1543168	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1607253	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs17581715	1.00[CEU][hapmap]
rs1878583	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1982288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996425	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2028670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2028671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2028672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2028673	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2028674	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2056202	1.00[JPT][hapmap]
rs2176466	1.00[JPT][hapmap]
rs2292813	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2292814	0.81[EUR][1000 genomes]
rs2357064	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs2357206	1.00[JPT][hapmap]
rs2357207	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28372952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770443	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes]
rs3770444	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3770453	1.00[JPT][hapmap]
rs3770457	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3791343	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3821092	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3821094	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3821096	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4072279	0.98[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4324292	0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs4507064	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4668417	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59853867	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs60706248	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182438	0.85[ASN][1000 genomes]
rs6433313	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6433315	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6433316	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6433317	1.00[JPT][hapmap]
rs6433318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433322	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6707142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6711813	1.00[JPT][hapmap]
rs6714214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6726050	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6733123	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6736159	1.00[JPT][hapmap]
rs6740705	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6741030	0.87[AFR][1000 genomes]
rs6742905	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753551	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6753859	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6757680	0.88[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs6758494	1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6760680	1.00[JPT][hapmap]
rs718936	1.00[CEU][hapmap]
rs7340516	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7371503	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7371631	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7560031	1.00[CEU][hapmap]
rs7579509	0.87[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7580132	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7580232	1.00[JPT][hapmap]
rs7583860	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7588025	1.00[JPT][hapmap]
rs7594478	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7597525	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598232	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7604933	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs925881	1.00[JPT][hapmap]
rs9287948	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs949548	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs970948	0.86[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172779800-172828400	Weak transcription	Aorta	Aorta
2	chr2:172780000-172812800	Weak transcription	Lung	lung
3	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:172780200-172822200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:172780400-172796600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:172780400-172820600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:172780600-172811200	Weak transcription	HSMMtube	muscle
10	chr2:172780600-172811200	Weak transcription	NHEK	skin
11	chr2:172780600-172820600	Weak transcription	Brain Anterior Caudate	brain
12	chr2:172780600-172822200	Weak transcription	Liver	Liver
13	chr2:172780600-172822200	Weak transcription	Fetal Kidney	kidney
14	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
16	chr2:172781000-172811000	Weak transcription	Right Ventricle	heart
17	chr2:172781000-172811200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:172781200-172801400	Weak transcription	NHDF-Ad	bronchial
19	chr2:172781200-172808800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:172781200-172811200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:172781400-172822000	Weak transcription	HUVEC	blood vessel
22	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:172783800-172796600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:172783800-172811200	Weak transcription	HMEC	breast
25	chr2:172784000-172804200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:172784000-172811400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:172784200-172811200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:172784600-172815000	Weak transcription	Left Ventricle	heart
29	chr2:172785000-172811200	Weak transcription	Adipose Nuclei	Adipose
30	chr2:172785200-172796200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:172785400-172822200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:172785400-172822400	Weak transcription	Placenta	Placenta
33	chr2:172785600-172796400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:172785800-172796800	Weak transcription	A549	lung
35	chr2:172785800-172806400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:172785800-172822200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:172786200-172800600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:172786400-172797400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:172787000-172796400	Weak transcription	HSMM	muscle
40	chr2:172787000-172804400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:172787000-172811400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:172787200-172795600	Weak transcription	HepG2	liver
43	chr2:172787200-172796400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:172787200-172812800	Weak transcription	Fetal Brain Male	brain
45	chr2:172787400-172810600	Weak transcription	Hela-S3	cervix
46	chr2:172787600-172809600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:172787800-172795600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:172787800-172797600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:172787800-172800400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:172787800-172822200	Weak transcription	Brain Hippocampus Middle	brain

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