Variant report

Variant	rs2716638
Chromosome Location	chr2:11963377-11963378
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17604177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2716611	0.84[EUR][1000 genomes]
rs73191082	0.81[EUR][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11919600-11968400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:11919800-11967600	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:11919800-11968400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:11919800-11968800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:11925200-11964800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:11925200-11968600	Strong transcription	NHLF	lung
7	chr2:11925800-11968600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr2:11937000-11968800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:11941200-11968600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:11944800-11965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:11946200-11969200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:11950200-11967200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:11950200-11968400	Strong transcription	Primary hematopoietic stem cells	blood
14	chr2:11951600-11968600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:11951800-11964400	Weak transcription	Fetal Heart	heart
16	chr2:11955400-11965000	Strong transcription	HMEC	breast
17	chr2:11956200-11969400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:11956600-11964600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:11956600-11964800	Weak transcription	Hela-S3	cervix
20	chr2:11956600-11966000	Weak transcription	A549	lung
21	chr2:11956600-11968400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:11956600-11969400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:11956600-11969600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:11956800-11964400	Weak transcription	Brain Angular Gyrus	brain
25	chr2:11957000-11964600	Weak transcription	Fetal Intestine Large	intestine
26	chr2:11957200-11964600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:11958200-11969200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:11959000-11965800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:11959200-11963400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:11959200-11963400	Strong transcription	Fetal Thymus	thymus
31	chr2:11959200-11963400	Strong transcription	K562	blood
32	chr2:11959200-11966200	Strong transcription	Dnd41	blood
33	chr2:11959200-11967200	Strong transcription	HUVEC	blood vessel
34	chr2:11959200-11967400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:11959200-11968200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:11959200-11968400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:11959200-11968800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:11959400-11964000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:11959400-11964600	Strong transcription	Left Ventricle	heart
40	chr2:11959400-11965400	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr2:11959400-11966000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:11959400-11967200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:11959400-11967200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:11959400-11967600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:11959400-11968000	Strong transcription	Adipose Nuclei	Adipose
46	chr2:11959400-11968000	Strong transcription	Brain Anterior Caudate	brain
47	chr2:11959600-11965800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:11959600-11967400	Strong transcription	Lung	lung
49	chr2:11959600-11968600	Strong transcription	Primary T cells from cord blood	blood
50	chr2:11959600-11968600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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