Variant report

Variant	rs1529945
Chromosome Location	chr8:117660112-117660113
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	chr8:117658422..117660745-chr8:117668634..117670690,2	MCF-7	breast:
2	chr8:117658930..117660814-chr8:117662341..117664406,2	K562	blood:

Variant related genes	Relation type
ENSG00000147677	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10085939	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10086419	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10088177	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10093551	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10096134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105610	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10112604	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10283129	0.88[YRI][hapmap]
rs10505282	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10505287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10808484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11781970	0.89[ASN][1000 genomes]
rs12547058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1317271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13258529	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs13262725	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277958	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436765	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1436766	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2118108	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3088140	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs34519652	0.82[EUR][1000 genomes]
rs35905748	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4256624	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4278180	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4289846	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4289847	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4335152	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4335153	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4422805	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4472547	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4601347	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4623456	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4629900	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4645587	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4876679	0.93[YRI][hapmap]
rs55951040	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469656	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6469657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980504	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983032	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6988841	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6996020	0.85[YRI][hapmap]
rs7013617	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7820778	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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821132	0.82[EUR][1000 genomes]
rs7830860	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7831811	0.86[YRI][hapmap]
rs7833054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7833618	0.81[YRI][hapmap]
rs7836549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7843852	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117636400-117670800	Weak transcription	Pancreas	Pancrea
2	chr8:117640600-117662000	Weak transcription	Fetal Brain Female	brain
3	chr8:117641200-117665600	Weak transcription	Fetal Brain Male	brain
4	chr8:117647200-117677800	Weak transcription	Gastric	stomach
5	chr8:117648000-117667400	Weak transcription	Fetal Heart	heart
6	chr8:117649000-117670000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:117649000-117670400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:117650400-117665600	Weak transcription	Brain Anterior Caudate	brain
9	chr8:117650400-117666600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:117650600-117662000	Weak transcription	Brain Substantia Nigra	brain
11	chr8:117650600-117662800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:117651200-117675000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:117651400-117670400	Weak transcription	Psoas Muscle	Psoas
14	chr8:117652400-117669200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:117652600-117660200	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:117652600-117662200	Weak transcription	Spleen	Spleen
17	chr8:117652800-117670400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:117653800-117662000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:117654000-117665400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:117654000-117672600	Weak transcription	Esophagus	oesophagus
21	chr8:117654400-117665000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:117654600-117662000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:117654600-117675200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:117654600-117715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:117655000-117668200	Strong transcription	Dnd41	blood
26	chr8:117655000-117670400	Weak transcription	Stomach Mucosa	stomach
27	chr8:117655200-117662000	Weak transcription	NHLF	lung
28	chr8:117655400-117661600	Strong transcription	HSMM	muscle
29	chr8:117655400-117661600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr8:117655400-117663600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:117655400-117663600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr8:117655400-117664200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr8:117655400-117670400	Weak transcription	Right Ventricle	heart
34	chr8:117655600-117660800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:117655600-117661600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr8:117655600-117662200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr8:117655600-117662400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:117655800-117663800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:117655800-117666200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:117656000-117661000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:117656000-117667800	Weak transcription	Colonic Mucosa	Colon
42	chr8:117656200-117662000	Weak transcription	Brain Angular Gyrus	brain
43	chr8:117656600-117662200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:117656800-117661200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:117656800-117661800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:117656800-117662400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:117656800-117667800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr8:117656800-117670000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:117657200-117670200	Weak transcription	Fetal Intestine Small	intestine
50	chr8:117657800-117664000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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