Variant report

Variant	rs394952
Chromosome Location	chr2:10011234-10011235
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10006138..10008945-chr2:10011171..10013813,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1652684	0.87[AFR][1000 genomes]
rs287985	0.82[AFR][1000 genomes]
rs287998	0.88[AFR][1000 genomes]
rs288000	0.83[AFR][1000 genomes]
rs288001	0.80[AFR][1000 genomes]
rs366852	0.87[AFR][1000 genomes]
rs386006	0.86[AFR][1000 genomes]
rs393281	0.87[AFR][1000 genomes]
rs396416	0.89[AFR][1000 genomes]
rs400098	0.87[AFR][1000 genomes]
rs400362	0.85[AFR][1000 genomes]
rs403303	0.81[AFR][1000 genomes]
rs406546	0.96[AFR][1000 genomes]
rs446907	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv873629	chr2:9949464-10016627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
5	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
6	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv580960	chr2:9993451-10066694	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv873632	chr2:10000978-10045014	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9987200-10038400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:9993800-10079600	Weak transcription	Gastric	stomach
3	chr2:9995800-10038000	Weak transcription	Small Intestine	intestine
4	chr2:9996400-10016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:9998200-10013800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:9998200-10024000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:9998200-10035600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:9998600-10017000	Weak transcription	K562	blood
9	chr2:9998600-10024000	Weak transcription	Pancreas	Pancrea
10	chr2:9998800-10026000	Weak transcription	Fetal Brain Male	brain
11	chr2:9998800-10032200	Weak transcription	Fetal Heart	heart
12	chr2:9998800-10036400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:9999000-10014200	Weak transcription	Aorta	Aorta
14	chr2:9999000-10014800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:9999000-10015200	Weak transcription	Esophagus	oesophagus
16	chr2:9999000-10015400	Weak transcription	HUVEC	blood vessel
17	chr2:9999000-10017600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:9999000-10024000	Weak transcription	Colonic Mucosa	Colon
19	chr2:9999000-10024000	Weak transcription	Spleen	Spleen
20	chr2:9999000-10035800	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:9999000-10035800	Weak transcription	Brain Substantia Nigra	brain
22	chr2:9999000-10037000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:9999000-10037200	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:9999200-10013800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:9999200-10013800	Weak transcription	Left Ventricle	heart
26	chr2:9999200-10017000	Weak transcription	HSMMtube	muscle
27	chr2:9999200-10017600	Weak transcription	Brain Anterior Caudate	brain
28	chr2:9999200-10036200	Weak transcription	Brain Angular Gyrus	brain
29	chr2:9999200-10036400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:9999200-10053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:10000600-10012600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:10000800-10011600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:10000800-10014000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:10000800-10014800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:10001000-10011600	Weak transcription	NH-A	brain
36	chr2:10001000-10012600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:10001000-10018400	Weak transcription	NHLF	lung
38	chr2:10001200-10013200	Weak transcription	Fetal Kidney	kidney
39	chr2:10001400-10013000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:10001400-10014400	Weak transcription	Ovary	ovary
41	chr2:10001600-10012000	Weak transcription	Lung	lung
42	chr2:10001600-10013800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:10001600-10014400	Weak transcription	Brain Germinal Matrix	brain
44	chr2:10001600-10024000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:10001600-10024000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:10002200-10024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:10002600-10016800	Weak transcription	HMEC	breast
48	chr2:10002600-10017000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:10005200-10012200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:10006800-10014600	Weak transcription	H1 Cell Line	embryonic stem cell

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