Variant report

Variant	rs10812502
Chromosome Location	chr9:26953609-26953610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:26890425..26894629-chr9:26953159..26958312,6	K562	blood:
2	chr9:26889862..26894629-chr9:26953159..26958871,9	K562	blood:
3	chr9:26943098..26949574-chr9:26949927..26957421,13	K562	blood:
4	chr9:26951108..26953952-chr9:26958227..26960200,3	K562	blood:
5	chr9:26949977..26952390-chr9:26952885..26955695,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120159	Chromatin interaction
ENSG00000096872	Chromatin interaction
ENSG00000137055	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10511796	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10511798	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10757636	0.81[ASN][1000 genomes]
rs10812490	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10812491	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10812494	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10812495	0.87[AMR][1000 genomes]
rs10812503	0.84[ASN][1000 genomes]
rs10812504	0.84[ASN][1000 genomes]
rs10812505	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10812506	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10812509	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10812510	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10812513	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10812514	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10812517	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10812522	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10812524	0.88[EUR][1000 genomes]
rs10967581	0.87[AMR][1000 genomes]
rs10967586	0.81[ASN][1000 genomes]
rs10967597	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10967599	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10967602	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10967609	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10967611	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10967612	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10967614	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10967621	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10967622	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10967623	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10967627	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10967629	0.87[ASN][1000 genomes]
rs10967630	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10967632	0.87[ASN][1000 genomes]
rs10967633	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10967635	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10967636	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10967646	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10967649	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10967650	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10967651	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10967661	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10967662	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10967666	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10967668	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10967669	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10967672	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10967673	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10967678	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10967681	0.94[EUR][1000 genomes]
rs10967682	0.89[EUR][1000 genomes]
rs10967688	0.94[EUR][1000 genomes]
rs10967694	0.91[EUR][1000 genomes]
rs10967695	0.91[EUR][1000 genomes]
rs10967699	0.88[EUR][1000 genomes]
rs10967701	0.88[EUR][1000 genomes]
rs11534184	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11534185	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11555693	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11562224	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12235490	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12236404	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12236850	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12237867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12684983	0.88[EUR][1000 genomes]
rs1336337	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1541144	0.84[ASN][1000 genomes]
rs17760820	0.82[AMR][1000 genomes]
rs17833941	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2184438	0.86[ASN][1000 genomes]
rs2184439	0.84[ASN][1000 genomes]
rs3737226	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3739544	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3739547	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3739548	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3739550	0.83[ASN][1000 genomes]
rs3758218	0.84[ASN][1000 genomes]
rs55827505	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55860736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55870543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56307252	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56903929	0.88[EUR][1000 genomes]
rs57450012	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57692080	0.88[EUR][1000 genomes]
rs60281060	0.91[EUR][1000 genomes]
rs60841248	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7019034	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7019075	0.85[AMR][1000 genomes]
rs7020010	0.87[ASN][1000 genomes]
rs7024327	0.91[EUR][1000 genomes]
rs7031903	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7031984	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7034115	0.80[ASN][1000 genomes]
rs7034478	0.84[ASN][1000 genomes]
rs7034888	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7034899	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7035447	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7045339	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72703105	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719536	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719538	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7849248	0.85[ASN][1000 genomes]
rs7857447	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7857466	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7857990	0.87[AMR][1000 genomes]
rs7865952	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7869798	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7870787	0.86[ASN][1000 genomes]
rs7872666	0.83[AMR][1000 genomes]
rs7873073	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7874940	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7875068	0.84[ASN][1000 genomes]
rs7875171	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9644870	0.83[AMR][1000 genomes];0.97[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	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv517269	chr9:26945976-27137242	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26947600-26955200	Weak transcription	Spleen	Spleen
2	chr9:26948000-26955200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:26948200-26954000	Weak transcription	Osteobl	bone
4	chr9:26948200-26955000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:26948200-26955000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:26948200-26955000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:26948200-26955000	Weak transcription	Adipose Nuclei	Adipose
8	chr9:26948200-26955000	Weak transcription	Brain Angular Gyrus	brain
9	chr9:26948200-26955000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:26948200-26955000	Weak transcription	Brain Substantia Nigra	brain
11	chr9:26948200-26955000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:26948200-26955000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr9:26948200-26955000	Weak transcription	NHDF-Ad	bronchial
14	chr9:26948200-26955000	Weak transcription	NHLF	lung
15	chr9:26948200-26955200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr9:26948200-26955200	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:26948200-26955400	Weak transcription	Psoas Muscle	Psoas
18	chr9:26948200-26955800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:26948400-26953800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr9:26948400-26954000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:26948400-26954200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr9:26948400-26954600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:26948400-26955000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr9:26948400-26955200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr9:26948400-26955200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr9:26948400-26955200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:26948400-26955200	Weak transcription	Liver	Liver
28	chr9:26949800-26954800	Weak transcription	A549	lung
29	chr9:26949800-26955200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr9:26949800-26955400	Weak transcription	NH-A	brain
31	chr9:26950000-26953800	Weak transcription	Small Intestine	intestine
32	chr9:26950000-26954000	Weak transcription	HepG2	liver
33	chr9:26950000-26955200	Weak transcription	HMEC	breast
34	chr9:26950000-26955200	Weak transcription	NHEK	skin
35	chr9:26950600-26955200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:26950600-26955400	Weak transcription	Hela-S3	cervix
37	chr9:26952800-26953800	Enhancers	K562	blood
38	chr9:26953600-26953800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr9:26953600-26954000	Enhancers	Primary monocytes fromperipheralblood	blood

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