Variant report

Variant	rs12240690
Chromosome Location	chr10:23739318-23739319
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:23734822..23737617-chr10:23738406..23741055,2	MCF-7	breast:
2	chr10:23737577..23740196-chr10:23740591..23742744,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11013469	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11013475	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11013486	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11013488	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11013490	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11013501	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11013508	0.89[AMR][1000 genomes]
rs12246797	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12254124	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12258295	0.83[EUR][1000 genomes]
rs12265309	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12266879	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1398026	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1511825	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs3934842	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4748887	1.00[CEU][hapmap]
rs59647470	0.89[AMR][1000 genomes]
rs7072045	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7079866	1.00[CEU][hapmap]
rs7080648	0.83[EUR][1000 genomes]
rs7084145	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7084695	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7094796	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7097167	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs7097185	1.00[CEU][hapmap];0.83[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	nsv825305	chr10:23698620-23740919	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv831811	chr10:23734326-23913370	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23731600-23750600	Weak transcription	HSMMtube	muscle
2	chr10:23731800-23740200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:23731800-23747800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:23732000-23740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:23732200-23747800	Weak transcription	NHEK	skin
6	chr10:23732400-23741200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr10:23732600-23740400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:23732600-23740400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:23732600-23750400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr10:23732800-23741000	Weak transcription	Brain Substantia Nigra	brain
11	chr10:23732800-23744000	Weak transcription	Right Ventricle	heart
12	chr10:23733000-23740000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:23733000-23740400	Weak transcription	Fetal Brain Female	brain
14	chr10:23733000-23740600	Weak transcription	Fetal Intestine Small	intestine
15	chr10:23733000-23741000	Weak transcription	Psoas Muscle	Psoas
16	chr10:23735000-23744400	Weak transcription	Stomach Mucosa	stomach
17	chr10:23735400-23742600	Enhancers	Primary B cells from peripheral blood	blood
18	chr10:23736000-23740000	Weak transcription	Fetal Stomach	stomach
19	chr10:23736800-23741600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr10:23737400-23739400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr10:23738000-23740400	Enhancers	Primary B cells from cord blood	blood
22	chr10:23738200-23739800	Weak transcription	GM12878-XiMat	blood
23	chr10:23738200-23740800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:23738200-23749400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr10:23738600-23740600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr10:23738600-23742800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:23738800-23740400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:23739000-23741000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr10:23739000-23741000	Weak transcription	Right Atrium	heart
30	chr10:23739000-23741000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr10:23739000-23741000	Weak transcription	Spleen	Spleen
32	chr10:23739000-23741200	Weak transcription	Left Ventricle	heart
33	chr10:23739000-23743000	Weak transcription	Esophagus	oesophagus
34	chr10:23739000-23750800	Weak transcription	Aorta	Aorta
35	chr10:23739200-23739400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr10:23739200-23739600	Weak transcription	Adipose Nuclei	Adipose
37	chr10:23739200-23740400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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