Variant report

Variant	rs13008842
Chromosome Location	chr2:9910191-9910192
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11674369	0.82[CHB][hapmap]
rs4669457	0.88[JPT][hapmap]
rs4669458	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	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
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv873618	chr2:9870631-9919759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	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
8	nsv873620	chr2:9906145-9951970	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9901800-9910200	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:9903000-9911800	Enhancers	Fetal Intestine Small	intestine
3	chr2:9903200-9912000	Enhancers	Fetal Intestine Large	intestine
4	chr2:9903600-9910400	Weak transcription	Psoas Muscle	Psoas
5	chr2:9903600-9910800	Weak transcription	Left Ventricle	heart
6	chr2:9904800-9910400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:9904800-9910400	Weak transcription	Hela-S3	cervix
8	chr2:9905000-9910200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:9905200-9913000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:9906200-9912000	Enhancers	Fetal Thymus	thymus
11	chr2:9906400-9910600	Weak transcription	Small Intestine	intestine
12	chr2:9906800-9910400	Weak transcription	Lung	lung
13	chr2:9906800-9910400	Weak transcription	Right Atrium	heart
14	chr2:9906800-9910400	Weak transcription	Right Ventricle	heart
15	chr2:9906800-9910400	Weak transcription	A549	lung
16	chr2:9907200-9910200	Weak transcription	NHEK	skin
17	chr2:9907600-9911200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:9907600-9913600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:9907800-9910400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:9907800-9911200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:9907800-9912000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:9908000-9911000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:9908000-9911000	Enhancers	GM12878-XiMat	blood
24	chr2:9908000-9911200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:9908000-9911200	Enhancers	Pancreas	Pancrea
26	chr2:9908000-9911200	Enhancers	Spleen	Spleen
27	chr2:9908000-9912200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr2:9908000-9912400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:9908000-9912600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:9908000-9915200	Enhancers	Fetal Muscle Leg	muscle
31	chr2:9908200-9910200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr2:9908200-9910600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr2:9908200-9911600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:9908200-9912200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:9908200-9913600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:9908400-9910200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:9908400-9910200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr2:9908400-9911200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:9908400-9911200	Enhancers	K562	blood
40	chr2:9908400-9912000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:9908400-9912000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:9908400-9912400	Enhancers	Esophagus	oesophagus
43	chr2:9908600-9910200	Enhancers	HMEC	breast
44	chr2:9908800-9910400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:9908800-9910400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:9908800-9912600	Enhancers	NH-A	brain
47	chr2:9909000-9910800	Weak transcription	Colonic Mucosa	Colon
48	chr2:9909000-9912400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:9909200-9910400	Weak transcription	Brain Angular Gyrus	brain
50	chr2:9909200-9911400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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