Variant report

Variant	rs4267491
Chromosome Location	chr2:11461143-11461144
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11454425..11456556-chr2:11460014..11461725,2	MCF-7	breast:
2	chr2:11459798..11462037-chr2:11515531..11517179,2	K562	blood:
3	chr2:11455012..11458402-chr2:11459652..11462468,3	K562	blood:
4	chr2:11455012..11457129-chr2:11460561..11462468,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10183373	0.84[AFR][1000 genomes]
rs10201229	0.84[AFR][1000 genomes]
rs10205022	0.84[AFR][1000 genomes]
rs10495581	0.83[AFR][1000 genomes]
rs12329273	0.91[AFR][1000 genomes]
rs12329341	0.91[AFR][1000 genomes]
rs13387757	0.92[AFR][1000 genomes]
rs13388427	0.84[AFR][1000 genomes]
rs13416047	1.00[AFR][1000 genomes]
rs1375853	1.00[AFR][1000 genomes]
rs28441302	1.00[AFR][1000 genomes]
rs55931955	0.83[AFR][1000 genomes]
rs6705981	0.83[AFR][1000 genomes]
rs6748868	0.83[AFR][1000 genomes]
rs7583049	0.83[AFR][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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11445000-11465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:11447200-11466200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:11448000-11465800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:11450600-11466600	Weak transcription	NHLF	lung
5	chr2:11451600-11467000	Weak transcription	Primary B cells from cord blood	blood
6	chr2:11451800-11466000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:11452000-11466000	Weak transcription	Small Intestine	intestine
8	chr2:11454400-11469800	Weak transcription	Fetal Brain Male	brain
9	chr2:11454600-11466000	Weak transcription	Brain Angular Gyrus	brain
10	chr2:11455000-11462800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:11455000-11469200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:11455200-11466600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:11455600-11465400	Weak transcription	NHDF-Ad	bronchial
14	chr2:11456000-11469400	Weak transcription	HSMM	muscle
15	chr2:11456200-11466000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:11456800-11466400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:11457200-11476400	Weak transcription	Fetal Intestine Small	intestine
18	chr2:11457400-11469800	Weak transcription	Hela-S3	cervix
19	chr2:11459400-11462800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:11459800-11469400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:11460000-11461200	Enhancers	Adipose Nuclei	Adipose
22	chr2:11460000-11461200	Enhancers	Ovary	ovary
23	chr2:11460000-11461200	Enhancers	K562	blood
24	chr2:11460000-11461600	Enhancers	Right Atrium	heart
25	chr2:11460000-11462200	Enhancers	Psoas Muscle	Psoas
26	chr2:11460000-11462200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:11460000-11464200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:11460200-11461200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:11460200-11461200	Enhancers	Colon Smooth Muscle	Colon
30	chr2:11460200-11461200	Enhancers	Fetal Heart	heart
31	chr2:11460200-11462400	Enhancers	Left Ventricle	heart
32	chr2:11460400-11461200	Enhancers	Brain Anterior Caudate	brain
33	chr2:11460600-11461400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:11460600-11469400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:11460800-11461200	Enhancers	Liver	Liver
36	chr2:11460800-11461400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:11460800-11461600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:11460800-11461600	Enhancers	Gastric	stomach
39	chr2:11460800-11461600	Enhancers	Pancreas	Pancrea
40	chr2:11460800-11462200	Enhancers	Lung	lung
41	chr2:11460800-11469800	Weak transcription	Fetal Lung	lung
42	chr2:11461000-11461200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr2:11461000-11461200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:11461000-11461600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:11461000-11462000	Enhancers	HepG2	liver
46	chr2:11461000-11463600	Weak transcription	A549	lung
47	chr2:11461000-11467200	Weak transcription	Right Ventricle	heart
48	chr2:11461000-11476400	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links