Variant report

Variant	rs6867376
Chromosome Location	chr5:112072470-112072471
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112041577..112049243-chr5:112069735..112074802,8	K562	blood:
2	chr5:112070188..112073138-chr5:112174884..112177444,2	K562	blood:
3	chr5:112041486..112046402-chr5:112068342..112076365,12	K562	blood:
4	chr5:112042397..112044645-chr5:112071738..112074273,3	MCF-7	breast:
5	chr5:112066564..112068742-chr5:112071367..112073488,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10515446	0.98[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11950612	0.87[ASN][1000 genomes]
rs1613148	0.87[ASN][1000 genomes]
rs1644240	0.81[ASN][1000 genomes]
rs1734242	0.87[ASN][1000 genomes]
rs2304793	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56015954	0.85[ASN][1000 genomes]
rs58625991	0.91[ASN][1000 genomes]
rs60905866	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6891448	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73216203	0.83[ASN][1000 genomes]
rs7703438	0.81[ASN][1000 genomes]
rs7706623	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712157	0.81[ASN][1000 genomes]
rs7712303	0.81[ASN][1000 genomes]
rs7712537	0.81[ASN][1000 genomes]
rs7728216	0.81[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	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112052000-112072600	Weak transcription	Primary B cells from cord blood	blood
2	chr5:112052600-112072600	Weak transcription	Primary T cells from cord blood	blood
3	chr5:112054400-112073200	Weak transcription	Pancreas	Pancrea
4	chr5:112058600-112072800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:112059200-112073200	Weak transcription	Left Ventricle	heart
6	chr5:112060000-112072800	Weak transcription	Fetal Heart	heart
7	chr5:112061000-112072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:112061000-112072800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:112061000-112073000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:112061800-112073000	Weak transcription	Fetal Stomach	stomach
11	chr5:112062200-112073000	Weak transcription	Brain Germinal Matrix	brain
12	chr5:112062400-112072800	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:112062400-112073000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:112062400-112073000	Weak transcription	Fetal Intestine Small	intestine
15	chr5:112065200-112073000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:112066400-112072800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:112066400-112072800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:112067000-112072800	Weak transcription	Fetal Kidney	kidney
19	chr5:112067800-112073000	Weak transcription	Psoas Muscle	Psoas
20	chr5:112068200-112073200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:112068600-112072600	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:112069000-112072800	Enhancers	K562	blood
23	chr5:112069000-112072800	Enhancers	NHDF-Ad	bronchial
24	chr5:112069200-112072800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:112069200-112073000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:112069200-112073200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:112069600-112073000	Weak transcription	HMEC	breast
28	chr5:112069800-112072800	Weak transcription	NHEK	skin
29	chr5:112069800-112073000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:112070000-112072800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:112070000-112072800	Weak transcription	Brain Angular Gyrus	brain
32	chr5:112070000-112072800	Weak transcription	Right Atrium	heart
33	chr5:112070000-112073000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:112070000-112073200	Weak transcription	Lung	lung
35	chr5:112070200-112072800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:112070600-112073000	Enhancers	Osteobl	bone
37	chr5:112070800-112072600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:112070800-112072800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:112070800-112072800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr5:112070800-112072800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:112070800-112072800	Weak transcription	HSMMtube	muscle
42	chr5:112070800-112072800	Enhancers	HUVEC	blood vessel
43	chr5:112070800-112072800	Enhancers	NH-A	brain
44	chr5:112071000-112072800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:112071000-112072800	Enhancers	NHLF	lung
46	chr5:112071200-112073000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:112071200-112073200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:112071400-112072800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:112071400-112072800	Enhancers	Brain Anterior Caudate	brain
50	chr5:112071400-112072800	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links