Variant report

Variant	rs17214703
Chromosome Location	chr8:59740982-59740983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10504263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10504265	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1075418	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12541161	0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs12542489	1.00[CHB][hapmap]
rs1349115	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1375185	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1375186	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1375187	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1375188	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1448546	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17292516	0.82[CHB][hapmap]
rs17292859	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs17293660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1868345	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3888823	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4738722	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs56055689	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56371425	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62505116	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62505118	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62505119	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62505121	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7464175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs960561	0.82[CHB][hapmap];0.82[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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv972211	chr8:59735634-59742139	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59714600-59746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:59715000-59742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:59715200-59757400	Weak transcription	Fetal Intestine Large	intestine
4	chr8:59720600-59754800	Weak transcription	Small Intestine	intestine
5	chr8:59720800-59745200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:59720800-59762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:59721000-59745000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:59721400-59745000	Weak transcription	Fetal Brain Male	brain
9	chr8:59721600-59745400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:59722400-59757200	Strong transcription	Dnd41	blood
11	chr8:59727000-59745400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:59728400-59741600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:59728400-59741600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:59729600-59754800	Weak transcription	Gastric	stomach
15	chr8:59730800-59770800	Strong transcription	Fetal Thymus	thymus
16	chr8:59732000-59745000	Weak transcription	Fetal Kidney	kidney
17	chr8:59732200-59755200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:59734000-59745200	Weak transcription	Fetal Brain Female	brain
19	chr8:59737200-59745000	Weak transcription	Fetal Intestine Small	intestine
20	chr8:59737600-59745000	Weak transcription	Brain Germinal Matrix	brain
21	chr8:59738600-59745400	Enhancers	NHDF-Ad	bronchial
22	chr8:59739000-59742600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:59739000-59745400	Enhancers	NHLF	lung
24	chr8:59739000-59746200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:59739000-59753200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:59739200-59743000	Enhancers	HUVEC	blood vessel
27	chr8:59739200-59745200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:59739400-59745000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:59739400-59745400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:59739400-59745400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:59739400-59748200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr8:59739400-59748600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:59739400-59749200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:59739400-59750000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:59739600-59741000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:59739600-59743600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:59739600-59745200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:59739600-59745200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:59739600-59748200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:59739800-59741000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr8:59739800-59741200	Enhancers	A549	lung
42	chr8:59739800-59741600	Enhancers	Fetal Lung	lung
43	chr8:59739800-59743200	Enhancers	Colon Smooth Muscle	Colon
44	chr8:59740000-59742600	Enhancers	Fetal Stomach	stomach
45	chr8:59740000-59745200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:59740200-59741000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:59740200-59741600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:59740200-59741600	Weak transcription	Stomach Mucosa	stomach
49	chr8:59740200-59745000	Weak transcription	Primary T cells from cord blood	blood
50	chr8:59740200-59745200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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