Variant report

Variant	rs62114966
Chromosome Location	chr2:11947203-11947204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12611804	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs59208217	0.93[EUR][1000 genomes]
rs62114965	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62114967	0.93[EUR][1000 genomes]
rs62114968	0.93[EUR][1000 genomes]
rs73917819	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11916800-11961200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:11919400-11961800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:11919600-11968400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:11919800-11948400	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:11919800-11949000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:11919800-11957600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:11919800-11957800	Strong transcription	Primary T cells from cord blood	blood
8	chr2:11919800-11959200	Strong transcription	Liver	Liver
9	chr2:11919800-11960400	Weak transcription	Stomach Mucosa	stomach
10	chr2:11919800-11963200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:11919800-11967600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:11919800-11968400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:11919800-11968800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:11924600-11947800	Weak transcription	Right Atrium	heart
15	chr2:11925200-11949400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr2:11925200-11964800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:11925200-11968600	Strong transcription	NHLF	lung
18	chr2:11925800-11968600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:11926200-11948600	Strong transcription	Primary hematopoietic stem cells	blood
20	chr2:11928400-11948800	Strong transcription	HUVEC	blood vessel
21	chr2:11929800-11951200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:11929800-11955200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:11931800-11948600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:11931800-11948600	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:11932400-11959600	Weak transcription	Fetal Kidney	kidney
26	chr2:11936800-11957600	Strong transcription	Adipose Nuclei	Adipose
27	chr2:11936800-11958000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:11937000-11968800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:11937600-11957600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:11939200-11948200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:11939200-11948600	Strong transcription	Primary B cells from cord blood	blood
32	chr2:11939400-11948800	Strong transcription	K562	blood
33	chr2:11941200-11956200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:11941200-11968600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:11941400-11948600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:11941600-11948600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:11941600-11953000	Strong transcription	HMEC	breast
38	chr2:11941800-11951800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:11942000-11949400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:11942000-11958200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:11942200-11948200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:11942200-11948600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:11942200-11948600	Strong transcription	Colonic Mucosa	Colon
44	chr2:11942200-11948600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:11942200-11948600	Strong transcription	Dnd41	blood
46	chr2:11942200-11948800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:11942200-11953000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:11942400-11947400	Strong transcription	Left Ventricle	heart
49	chr2:11942400-11948000	Strong transcription	GM12878-XiMat	blood
50	chr2:11942400-11948400	Strong transcription	Fetal Thymus	thymus

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