Variant report

Variant	rs7067608
Chromosome Location	chr10:52396759-52396760
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52154324..52156059-chr10:52394056..52396919,2	K562	blood:
2	chr10:52395757..52398409-chr10:52400415..52402035,2	MCF-7	breast:
3	chr10:52394806..52397022-chr10:52398491..52400637,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASAH2B-2	chr10:52389337-52401211	ENSG00000226200.2

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10218880	1.00[CHB][hapmap]
rs10218927	1.00[CHB][hapmap]
rs11006224	1.00[CHB][hapmap]
rs12243444	1.00[CHB][hapmap]
rs12262564	1.00[CHB][hapmap]
rs12358866	0.83[YRI][hapmap]
rs13376734	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064760	0.86[TSI][hapmap]
rs2208037	0.83[EUR][1000 genomes]
rs2860490	0.84[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs2983352	0.83[TSI][hapmap]
rs2983362	0.86[TSI][hapmap]
rs2983363	0.84[GIH][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs2983365	0.83[EUR][1000 genomes]
rs3001853	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.93[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3001855	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs3001856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3001857	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3001858	0.87[CEU][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3001859	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3001860	0.86[EUR][1000 genomes]
rs3001861	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3001864	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3001865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3001866	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];0.83[TSI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3001867	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3001884	0.97[EUR][1000 genomes]
rs3011711	0.84[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs3011717	0.89[EUR][1000 genomes]
rs3011718	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3011719	0.86[AMR][1000 genomes]
rs3011728	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3011729	0.88[EUR][1000 genomes]
rs3011730	0.88[EUR][1000 genomes]
rs3011731	0.88[EUR][1000 genomes]
rs3011738	0.91[EUR][1000 genomes]
rs3011739	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3011748	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3011752	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56153288	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56266445	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57025029	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67094247	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7074349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7077555	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7077589	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7078586	0.93[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes]
rs7096920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7100589	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72787008	0.89[EUR][1000 genomes]
rs72803755	0.98[EUR][1000 genomes]
rs7897345	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7904446	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7908093	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52385800-52396800	Weak transcription	Fetal Brain Male	brain
2	chr10:52385800-52397000	Weak transcription	Psoas Muscle	Psoas
3	chr10:52385800-52397000	Weak transcription	Small Intestine	intestine
4	chr10:52386000-52397000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr10:52386000-52400400	Weak transcription	Fetal Lung	lung
6	chr10:52390200-52397000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:52390200-52397000	Weak transcription	Brain Hippocampus Middle	brain
8	chr10:52394600-52397000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:52394600-52397000	Enhancers	Osteobl	bone
10	chr10:52394600-52397200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr10:52394600-52397400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:52394800-52397200	Enhancers	NH-A	brain
13	chr10:52394800-52397400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:52395400-52396800	Enhancers	HUVEC	blood vessel
15	chr10:52395600-52397000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:52395600-52397600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr10:52395800-52396800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr10:52395800-52396800	Weak transcription	HSMM	muscle
19	chr10:52395800-52397000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:52395800-52397200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:52396000-52397200	Enhancers	Primary hematopoietic stem cells	blood
22	chr10:52396000-52397200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr10:52396000-52397200	Enhancers	K562	blood
24	chr10:52396000-52397400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr10:52396000-52397400	Enhancers	Fetal Thymus	thymus
26	chr10:52396200-52396800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr10:52396200-52396800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr10:52396200-52396800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr10:52396200-52396800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr10:52396200-52396800	Enhancers	HepG2	liver
31	chr10:52396200-52397000	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr10:52396200-52397200	Enhancers	Primary B cells from cord blood	blood
33	chr10:52396200-52397200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr10:52396200-52397200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr10:52396200-52397200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr10:52396400-52396800	Weak transcription	NHLF	lung
37	chr10:52396400-52397200	Flanking Active TSS	GM12878-XiMat	blood
38	chr10:52396600-52396800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr10:52396600-52396800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr10:52396600-52396800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr10:52396600-52397000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:52396600-52397000	Active TSS	Duodenum Mucosa	Duodenum
43	chr10:52396600-52397000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr10:52396600-52397000	Enhancers	NHDF-Ad	bronchial
45	chr10:52396600-52397200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:52396600-52397400	Enhancers	Primary B cells from peripheral blood	blood

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