Variant report

Variant	rs721858
Chromosome Location	chr2:15419856-15419857
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:15415534..15417403-chr2:15419778..15422122,2	K562	blood:
2	chr2:15409700..15412654-chr2:15418398..15420590,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10167186	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10181295	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10193783	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193872	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10199552	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10199885	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10206116	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1076509	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10803672	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10929355	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10929356	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10929357	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11686627	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11892206	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11904635	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12613488	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12692259	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12993581	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12993786	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1318102	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1808361	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1974772	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1989380	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2020147	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2042144	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805093	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805095	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828463	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4465744	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4668889	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4668890	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4668891	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4668892	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4668893	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6431688	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6431689	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6431690	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6431691	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6708720	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6711181	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6728767	0.81[AMR][1000 genomes]
rs6731789	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6732362	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6738994	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746672	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6756029	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7340328	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs741570	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7575687	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584861	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7598652	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7599455	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7605754	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs888636	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs929735	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs962616	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9711182	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9917271	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515567	chr2:15004748-15906778	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv529077	chr2:15143950-15722947	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv948649	chr2:15273933-15572834	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2762245	chr2:15418054-15480441	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:15365000-15442400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:15371400-15468400	Weak transcription	Esophagus	oesophagus
3	chr2:15372800-15432600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:15375000-15446000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:15375000-15469000	Weak transcription	Psoas Muscle	Psoas
6	chr2:15392400-15463400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:15396000-15426000	Weak transcription	Thymus	Thymus
8	chr2:15399600-15426600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:15399600-15453600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:15399800-15427200	Weak transcription	Right Ventricle	heart
11	chr2:15399800-15440600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:15399800-15470600	Weak transcription	HUVEC	blood vessel
13	chr2:15400000-15420800	Weak transcription	Gastric	stomach
14	chr2:15400000-15422600	Weak transcription	Aorta	Aorta
15	chr2:15400000-15422600	Weak transcription	Fetal Lung	lung
16	chr2:15400000-15430600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:15400600-15468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:15400800-15456400	Weak transcription	Pancreas	Pancrea
19	chr2:15401000-15421800	Weak transcription	GM12878-XiMat	blood
20	chr2:15401200-15469600	Weak transcription	Small Intestine	intestine
21	chr2:15401400-15431800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:15402400-15431000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:15402400-15457000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:15403200-15425600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:15406200-15438600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:15406200-15440800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:15407400-15450000	Weak transcription	HMEC	breast
28	chr2:15407600-15426800	Weak transcription	Placenta	Placenta
29	chr2:15411400-15433400	Strong transcription	Primary T cells from cord blood	blood
30	chr2:15411800-15420400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:15411800-15427000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:15412000-15422800	Weak transcription	Brain Angular Gyrus	brain
33	chr2:15412000-15437400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:15412000-15440800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:15412400-15426800	Weak transcription	HSMMtube	muscle
36	chr2:15412600-15426000	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:15412600-15426400	Weak transcription	Brain Substantia Nigra	brain
38	chr2:15412600-15432200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:15412800-15426200	Weak transcription	Fetal Brain Female	brain
40	chr2:15413000-15440600	Weak transcription	NHLF	lung
41	chr2:15413400-15424400	Weak transcription	NHDF-Ad	bronchial
42	chr2:15413800-15427200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:15413800-15431400	Weak transcription	Fetal Brain Male	brain
44	chr2:15413800-15453600	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:15414400-15426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:15414600-15426400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:15415200-15431200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:15415200-15437000	Weak transcription	Hela-S3	cervix
49	chr2:15415400-15427200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:15415600-15426600	Weak transcription	Muscle Satellite Cultured Cells	--

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