Variant report

Variant	rs2036764
Chromosome Location	chr17:46588331-46588332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46582522..46585256-chr17:46587191..46589212,2	K562	blood:
2	chr17:46585053..46590191-chr17:46590759..46593936,5	MCF-7	breast:
3	chr17:46586769..46589469-chr17:46592759..46594297,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10514953	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10853099	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10853100	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11079824	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11079825	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11079826	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11079828	0.81[CEU][hapmap]
rs11651168	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11652125	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11652746	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11867735	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11869101	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12450225	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12603662	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1509638	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1553748	0.81[JPT][hapmap]
rs1553754	0.85[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1553755	0.81[JPT][hapmap]
rs1812501	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1987164	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2325948	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2326013	0.81[EUR][1000 genomes]
rs4793564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59961340	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60154639	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60859312	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62065845	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62065847	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62066684	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6504280	0.81[JPT][hapmap]
rs7214534	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72829818	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829824	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7501529	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8077407	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs925284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	nsv908577	chr17:46584900-46704536	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	343 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2036764	HOXB-AS1	cis	Whole Blood	GTEx
rs2036764	HOXB2	Cis_1M	lymphoblastoid	RTeQTL
rs2036764	HOXB3	cis	Whole Blood	GTEx
rs2036764	HOXB2	cis	Whole Blood	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46583600-46590200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr17:46583800-46590400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:46583800-46590400	Weak transcription	Colon Smooth Muscle	Colon
4	chr17:46584000-46590200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:46584400-46590200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:46584400-46590400	Weak transcription	A549	lung
7	chr17:46584600-46588800	Weak transcription	K562	blood
8	chr17:46585000-46590600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:46585000-46591600	Weak transcription	HSMM	muscle
10	chr17:46587800-46588600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr17:46587800-46589200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr17:46587800-46589200	Enhancers	Osteobl	bone
13	chr17:46587800-46589400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:46587800-46590400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr17:46587800-46591800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr17:46588000-46588400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:46588000-46588400	Enhancers	HMEC	breast
18	chr17:46588000-46588600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:46588000-46588600	Flanking Active TSS	GM12878-XiMat	blood
20	chr17:46588000-46588600	Enhancers	NHLF	lung
21	chr17:46588000-46589000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr17:46588000-46589000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr17:46588000-46589200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:46588000-46589200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:46588000-46589200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:46588000-46589400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:46588200-46588400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr17:46588200-46588400	Enhancers	NH-A	brain
29	chr17:46588200-46588400	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links