Variant report

Variant	rs12990752
Chromosome Location	chr2:179719080-179719081
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	chr2:179703177..179705229-chr2:179718094..179719823,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10930838	0.89[ASN][1000 genomes]
rs11693733	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12052272	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12988301	0.80[ASN][1000 genomes]
rs13033688	0.90[ASN][1000 genomes]
rs16866554	0.84[ASN][1000 genomes]
rs1872203	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs35755711	0.80[ASN][1000 genomes]
rs55968359	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6711319	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6717039	0.81[EUR][1000 genomes]
rs6717160	0.81[EUR][1000 genomes]
rs6717759	0.84[EUR][1000 genomes];0.80[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	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179693400-179726000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:179695800-179738400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:179696400-179728800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
5	chr2:179702400-179729200	Weak transcription	Lung	lung
6	chr2:179702400-179730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:179702800-179728600	Weak transcription	Pancreas	Pancrea
8	chr2:179704400-179720800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:179707200-179721000	Strong transcription	Primary T cells from cord blood	blood
10	chr2:179708000-179727800	Weak transcription	Psoas Muscle	Psoas
11	chr2:179710800-179722400	Weak transcription	Fetal Lung	lung
12	chr2:179710800-179724000	Weak transcription	Fetal Intestine Small	intestine
13	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:179711400-179719400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:179711400-179720600	Weak transcription	Right Ventricle	heart
16	chr2:179711600-179719800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:179711600-179723800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:179711600-179728000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:179711600-179728400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:179712000-179719200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:179712000-179727000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:179712200-179725800	Weak transcription	Left Ventricle	heart
23	chr2:179713000-179721400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:179713000-179724400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:179713400-179722800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:179713400-179729200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:179714000-179723800	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:179718200-179720000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:179718200-179728600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:179718200-179728800	Weak transcription	Primary B cells from cord blood	blood
33	chr2:179718400-179719400	Weak transcription	HSMMtube	muscle
34	chr2:179718400-179728400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:179719000-179720000	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links