Variant report

Variant	rs10951187
Chromosome Location	chr7:27963437-27963438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27957341..27960196-chr7:27962479..27964875,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11763181	0.81[EUR][1000 genomes]
rs12538288	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1859109	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs191	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs197	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs200	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs201	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs205	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs207	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs208	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2097737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs211	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs214	1.00[AFR][1000 genomes]
rs215	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs218	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4722746	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6462060	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6951040	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6958293	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6968362	0.83[AMR][1000 genomes]
rs6970113	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6972944	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73083394	0.89[EUR][1000 genomes]
rs7778340	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7783410	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7787507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs916854	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1024819	chr7:27949955-28020969	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10951187	HOXA2	cis	lung	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27941400-27990800	Weak transcription	Primary T cells from cord blood	blood
2	chr7:27942400-28005600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr7:27956600-27979800	Weak transcription	Aorta	Aorta
4	chr7:27957200-27979000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:27957600-27969200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:27957600-28000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:27957800-27973400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:27960200-27964400	Enhancers	Dnd41	blood
9	chr7:27961000-27968000	Weak transcription	Brain Substantia Nigra	brain
10	chr7:27961000-27976000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:27961000-27983400	Weak transcription	NH-A	brain
12	chr7:27961200-27964200	Weak transcription	NHLF	lung
13	chr7:27961400-27967000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:27962400-27963600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr7:27962400-27963600	Enhancers	GM12878-XiMat	blood
16	chr7:27962400-27963800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:27962400-27963800	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:27962400-27963800	Enhancers	Fetal Muscle Leg	muscle
19	chr7:27962400-27963800	Enhancers	HSMMtube	muscle
20	chr7:27962400-27964600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:27962400-27964800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:27962600-27963600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:27962600-27963600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:27962600-27963600	Enhancers	Adipose Nuclei	Adipose
25	chr7:27962600-27963600	Enhancers	Right Atrium	heart
26	chr7:27962600-27963600	Enhancers	Right Ventricle	heart
27	chr7:27962600-27963600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr7:27962600-27964000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:27962600-27964600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:27962600-27964600	Enhancers	Osteobl	bone
31	chr7:27962800-27963600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:27962800-27963600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:27962800-27963600	Enhancers	Fetal Heart	heart
34	chr7:27962800-27963600	Enhancers	Fetal Stomach	stomach
35	chr7:27962800-27963800	Genic enhancers	Primary B cells from cord blood	blood
36	chr7:27963000-27963600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:27963000-27964800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr7:27963200-27963600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:27963200-27963600	Enhancers	Psoas Muscle	Psoas
40	chr7:27963200-27968000	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:27963400-27963600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:27963400-27964400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:27963400-27964600	Enhancers	NHDF-Ad	bronchial
44	chr7:27963400-27965000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:27963400-27965600	Weak transcription	Left Ventricle	heart
46	chr7:27963400-27967400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:27963400-27978000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links