Variant report

Variant	rs6453217
Chromosome Location	chr5:75708442-75708443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75706305..75708595-chr5:75709828..75711425,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10043040	0.89[EUR][1000 genomes]
rs10044351	0.89[EUR][1000 genomes]
rs10044370	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs10044373	0.89[EUR][1000 genomes]
rs10065322	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068074	0.89[EUR][1000 genomes]
rs10068404	0.82[EUR][1000 genomes]
rs10068651	0.92[CEU][hapmap]
rs10070688	0.89[EUR][1000 genomes]
rs10072221	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs10073228	0.89[EUR][1000 genomes]
rs10073282	0.89[EUR][1000 genomes]
rs10073382	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs10073448	0.91[EUR][1000 genomes]
rs10075621	0.85[JPT][hapmap]
rs10077372	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs10079393	0.88[EUR][1000 genomes]
rs10213849	0.92[CEU][hapmap]
rs10462539	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10462540	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11738470	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11740038	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11743541	0.92[CEU][hapmap]
rs11744637	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11747990	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11749318	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs12523532	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs13175420	0.90[EUR][1000 genomes]
rs13357820	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1984636	0.81[JPT][hapmap]
rs28386181	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3886042	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3886043	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3951318	0.81[JPT][hapmap]
rs4254886	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4296785	0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs4501323	0.90[ASN][1000 genomes]
rs4501324	0.90[ASN][1000 genomes]
rs4615280	0.89[EUR][1000 genomes]
rs4704310	0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs55995866	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56189196	0.89[EUR][1000 genomes]
rs59428516	0.88[EUR][1000 genomes]
rs60570368	0.89[EUR][1000 genomes]
rs62363210	0.82[ASN][1000 genomes]
rs6865628	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs6887962	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs6895725	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7706926	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7707426	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7718641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731240	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875541	0.82[JPT][hapmap]
rs875543	0.81[JPT][hapmap]

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	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv882206	chr5:75676658-75746813	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75701000-75721600	Weak transcription	Fetal Stomach	stomach
2	chr5:75701600-75713000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:75703000-75731800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:75703200-75717800	Weak transcription	Small Intestine	intestine
5	chr5:75703400-75715600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:75703400-75718000	Weak transcription	Primary T cells from cord blood	blood
7	chr5:75703600-75747000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:75703800-75709000	Weak transcription	Primary B cells from cord blood	blood
9	chr5:75703800-75709400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:75704400-75708600	Weak transcription	GM12878-XiMat	blood
11	chr5:75704400-75709200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:75704400-75709400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:75704400-75709600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:75704600-75716800	Weak transcription	Fetal Intestine Small	intestine
15	chr5:75704800-75709200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:75705000-75708600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:75705400-75709600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:75705600-75708800	Enhancers	Liver	Liver
19	chr5:75706000-75712200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:75706200-75708800	Genic enhancers	Primary hematopoietic stem cells	blood
21	chr5:75706400-75709800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:75706800-75708600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:75706800-75718000	Weak transcription	Fetal Lung	lung
24	chr5:75707000-75727600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:75707400-75708800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:75707400-75709600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:75707600-75708600	Weak transcription	Gastric	stomach
28	chr5:75707600-75709200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:75707800-75708800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:75707800-75708800	Genic enhancers	HepG2	liver
31	chr5:75707800-75709200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:75707800-75709200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:75707800-75709600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:75707800-75709600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:75707800-75709800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:75707800-75711600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:75707800-75717600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:75707800-75718000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:75708000-75709400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr5:75708400-75709200	Weak transcription	Pancreas	Pancrea
41	chr5:75708400-75709600	Enhancers	Stomach Mucosa	stomach
42	chr5:75708400-75711000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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