Variant report

Variant	rs12543129
Chromosome Location	chr8:117853065-117853066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117848684..117853710-chr8:117854068..117860611,8	K562	blood:
2	chr8:117800325..117801249-chr8:117852174..117853913,9	MCF-7	breast:
3	chr8:117800316..117801212-chr8:117852987..117854119,8	MCF-7	breast:
4	chr8:117847027..117848773-chr8:117852159..117854368,2	MCF-7	breast:
5	chr8:117849321..117852329-chr8:117852764..117857152,5	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10094803	1.00[EUR][1000 genomes]
rs10282816	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10283144	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10283150	1.00[EUR][1000 genomes]
rs11990712	1.00[EUR][1000 genomes]
rs12548885	0.98[ASN][1000 genomes]
rs12548895	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348797	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs14795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888870	1.00[ASN][1000 genomes]
rs16888925	1.00[EUR][1000 genomes]
rs16888945	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16889007	1.00[EUR][1000 genomes]
rs16889037	1.00[EUR][1000 genomes]
rs16889074	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16889209	1.00[EUR][1000 genomes]
rs16889218	1.00[EUR][1000 genomes]
rs16889220	1.00[EUR][1000 genomes]
rs16889226	1.00[EUR][1000 genomes]
rs17435846	1.00[EUR][1000 genomes]
rs17435860	1.00[EUR][1000 genomes]
rs1838839	1.00[EUR][1000 genomes]
rs2241981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2241982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2289937	1.00[CEU][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28462971	1.00[EUR][1000 genomes]
rs2921754	0.87[ASN][1000 genomes]
rs2921756	0.91[ASN][1000 genomes]
rs2921757	0.91[ASN][1000 genomes]
rs2921758	0.91[ASN][1000 genomes]
rs2921770	0.94[ASN][1000 genomes]
rs2921771	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2921772	0.94[ASN][1000 genomes]
rs2921773	0.94[ASN][1000 genomes]
rs2921774	0.94[ASN][1000 genomes]
rs2921775	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2921776	0.94[ASN][1000 genomes]
rs2921777	0.94[ASN][1000 genomes]
rs2921778	0.94[ASN][1000 genomes]
rs2921779	0.94[ASN][1000 genomes]
rs2921780	0.94[ASN][1000 genomes]
rs2921781	0.94[ASN][1000 genomes]
rs2921782	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2921783	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2921784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2921785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2921786	0.94[ASN][1000 genomes]
rs2921787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2921788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2921789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2921790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2921791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3020109	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3020111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3020118	0.94[ASN][1000 genomes]
rs3020124	0.94[ASN][1000 genomes]
rs3020125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3020126	0.94[ASN][1000 genomes]
rs3020128	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3020130	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3020131	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3020133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3020134	0.94[ASN][1000 genomes]
rs3020135	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3020136	0.94[ASN][1000 genomes]
rs3020138	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3020139	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3020140	0.94[ASN][1000 genomes]
rs3020142	0.94[ASN][1000 genomes]
rs3020174	0.93[JPT][hapmap]
rs3020181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35189908	0.90[ASN][1000 genomes]
rs35729774	0.81[ASN][1000 genomes]
rs55952416	1.00[EUR][1000 genomes]
rs56095633	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57202151	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469664	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6993568	1.00[EUR][1000 genomes]
rs6996153	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs73308288	0.84[ASN][1000 genomes]
rs73308296	0.97[ASN][1000 genomes]
rs7820245	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7831930	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7836088	1.00[EUR][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	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
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117840800-117859400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:117841000-117856800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:117844600-117856400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:117845400-117853200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:117846000-117856600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:117846200-117856400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:117846800-117856200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:117848200-117858600	Weak transcription	HepG2	liver
9	chr8:117848400-117863800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:117850000-117856000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:117850000-117856600	Weak transcription	HSMMtube	muscle
12	chr8:117850000-117859600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:117850400-117855200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:117850400-117857200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:117850800-117858200	Weak transcription	Primary B cells from cord blood	blood
16	chr8:117850800-117858800	Weak transcription	Ovary	ovary
17	chr8:117851000-117856400	Weak transcription	NHLF	lung
18	chr8:117851800-117853600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:117851800-117854800	Weak transcription	Dnd41	blood
20	chr8:117851800-117855800	Weak transcription	Placenta	Placenta
21	chr8:117851800-117856400	Weak transcription	Primary T cells from cord blood	blood
22	chr8:117852000-117856000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:117852000-117856000	Weak transcription	Brain Germinal Matrix	brain
24	chr8:117852000-117859000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:117852400-117857600	Weak transcription	A549	lung
26	chr8:117852400-117859200	Weak transcription	Fetal Heart	heart
27	chr8:117852400-117877000	Weak transcription	Fetal Intestine Small	intestine
28	chr8:117852600-117857000	Weak transcription	Hela-S3	cervix
29	chr8:117852600-117857800	Weak transcription	HMEC	breast
30	chr8:117852600-117858000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr8:117852600-117859200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:117852800-117856000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:117852800-117856000	Weak transcription	Fetal Thymus	thymus
34	chr8:117852800-117860800	Weak transcription	Small Intestine	intestine
35	chr8:117853000-117855400	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:117853000-117856000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:117853000-117856000	Weak transcription	Lung	lung
38	chr8:117853000-117856200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:117853000-117856400	Weak transcription	Liver	Liver
40	chr8:117853000-117856800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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