Variant report

Variant	rs12071149
Chromosome Location	chr1:84962423-84962424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84960965..84963869-chr1:84987776..84989357,2	K562	blood:
2	chr1:84961639..84963970-chr1:85027417..85029936,2	K562	blood:
3	chr1:84960949..84962875-chr1:84970991..84973103,2	MCF-7	breast:
4	chr1:84961886..84966476-chr1:85082859..85087991,5	K562	blood:

Variant related genes	Relation type
ENSG00000122432	Chromatin interaction
ENSG00000174021	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11163969	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11163970	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11163971	0.81[CHB][hapmap]
rs11163972	0.81[CHB][hapmap]
rs11163979	1.00[ASN][1000 genomes]
rs11163980	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163981	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11163990	0.96[ASN][1000 genomes]
rs11163994	1.00[ASN][1000 genomes]
rs11163999	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1123981	0.81[CHB][hapmap]
rs1144276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586006	0.81[CHB][hapmap]
rs12036957	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12040469	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124731	0.81[CHB][hapmap]
rs12126584	0.81[CHB][hapmap]
rs12126924	0.81[CHB][hapmap]
rs12128801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12136756	0.81[CHB][hapmap]
rs12403545	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1246159	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1246236	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1246253	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1246254	0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs1246255	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1400777	0.96[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1506707	0.81[CHB][hapmap]
rs1533374	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110519	0.81[CHB][hapmap]
rs1911159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2271620	0.81[CHB][hapmap]
rs2292191	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2303306	0.81[CHB][hapmap];0.95[YRI][hapmap];0.81[ASN][1000 genomes]
rs2389743	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2659173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677839	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794217	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911589	0.81[CHB][hapmap];0.95[YRI][hapmap];0.81[ASN][1000 genomes]
rs2911590	0.81[CHB][hapmap]
rs2911593	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2945155	0.81[CHB][hapmap]
rs2994953	0.81[CHB][hapmap]
rs2994954	0.94[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs2994955	0.88[ASN][1000 genomes]
rs3021402	0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs312395	0.81[CHB][hapmap]
rs312397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312401	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813605	0.81[CHB][hapmap]
rs4906995	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4906997	0.87[ASN][1000 genomes]
rs4907078	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6576713	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6576715	0.82[ASN][1000 genomes]
rs6692765	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6704211	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7512922	0.81[CHB][hapmap]
rs7514763	0.81[CHB][hapmap]
rs7516200	0.92[ASN][1000 genomes]
rs7519606	0.81[CHB][hapmap]
rs7537818	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9645393	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84946000-84965800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:84946000-84967000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:84946000-84969600	Weak transcription	Esophagus	oesophagus
4	chr1:84946000-84970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:84946000-84970800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:84946200-84962800	Weak transcription	HSMMtube	muscle
7	chr1:84946400-84962800	Weak transcription	Stomach Mucosa	stomach
8	chr1:84946800-84967400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:84947000-84965800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:84947400-84969800	Weak transcription	Aorta	Aorta
11	chr1:84947800-84966000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:84947800-84967800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:84949600-84968400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:84951200-84971000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:84952400-84967400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:84953800-84968400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:84954000-84965800	Strong transcription	Dnd41	blood
18	chr1:84954400-84963200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:84954800-84963400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:84954800-84965800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:84954800-84966400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:84954800-84966800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:84954800-84967000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:84954800-84967600	Strong transcription	Primary hematopoietic stem cells	blood
25	chr1:84954800-84969200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:84955000-84963400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:84955000-84963400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:84955000-84963600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:84955000-84963800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:84955000-84964200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:84955000-84964800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:84955000-84965600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:84955000-84965800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:84955000-84965800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:84955000-84966600	Strong transcription	Fetal Intestine Large	intestine
36	chr1:84955000-84966800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:84955000-84967000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr1:84955000-84967200	Strong transcription	Fetal Thymus	thymus
39	chr1:84955000-84967200	Strong transcription	HSMM	muscle
40	chr1:84955000-84967400	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr1:84955000-84967400	Strong transcription	HUVEC	blood vessel
42	chr1:84955000-84967400	Strong transcription	NH-A	brain
43	chr1:84955000-84967400	Strong transcription	NHDF-Ad	bronchial
44	chr1:84955000-84968400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr1:84955200-84962600	Strong transcription	Primary B cells from cord blood	blood
46	chr1:84955200-84963200	Strong transcription	Primary T cells from cord blood	blood
47	chr1:84955200-84963200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:84955200-84963400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:84955200-84964000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:84955200-84966000	Strong transcription	Rectal Mucosa Donor 31	rectum

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