Variant report

Variant	rs10250123
Chromosome Location	chr7:150178427-150178428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10266589	0.81[ASN][1000 genomes]
rs12386743	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7789612	0.92[EUR][1000 genomes]
rs7810382	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1031309	chr7:150171651-150222230	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150165600-150179200	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:150166600-150178800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:150166600-150179200	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:150172800-150178600	Weak transcription	GM12878-XiMat	blood
5	chr7:150175200-150180400	Enhancers	Adipose Nuclei	Adipose
6	chr7:150175600-150178600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:150176000-150180000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:150176600-150179400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:150176600-150180400	Enhancers	Fetal Thymus	thymus
10	chr7:150176800-150178800	Enhancers	Right Ventricle	heart
11	chr7:150176800-150179600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr7:150176800-150180200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:150176800-150180400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:150177000-150180200	Weak transcription	Liver	Liver
15	chr7:150177200-150180400	Enhancers	Primary hematopoietic stem cells	blood
16	chr7:150177200-150180800	Enhancers	Primary B cells from cord blood	blood
17	chr7:150177400-150178600	Weak transcription	Lung	lung
18	chr7:150177400-150178600	Weak transcription	Right Atrium	heart
19	chr7:150177400-150179400	Enhancers	Spleen	Spleen
20	chr7:150177400-150179400	Enhancers	Dnd41	blood
21	chr7:150177400-150179600	Enhancers	Duodenum Mucosa	Duodenum
22	chr7:150177400-150181400	Weak transcription	NHEK	skin
23	chr7:150177400-150181800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr7:150177600-150178600	Weak transcription	Left Ventricle	heart
25	chr7:150177600-150180400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:150177600-150181000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr7:150177800-150180400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:150178000-150178800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:150178000-150178800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr7:150178000-150179400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr7:150178000-150179400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:150178000-150179600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr7:150178000-150182400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr7:150178200-150178800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr7:150178200-150179400	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr7:150178200-150180200	Enhancers	Thymus	Thymus
37	chr7:150178400-150178600	Enhancers	Esophagus	oesophagus
38	chr7:150178400-150178800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr7:150178400-150178800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr7:150178400-150179000	Enhancers	Primary B cells from peripheral blood	blood
41	chr7:150178400-150179000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr7:150178400-150179000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:150178400-150179200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:150178400-150180200	Enhancers	HUVEC	blood vessel
45	chr7:150178400-150181200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links