Variant report

Variant	rs11127262
Chromosome Location	chr2:30486278-30486279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30481283..30483299-chr2:30485255..30486981,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1001202	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1001203	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127261	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11675079	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679132	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679137	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681350	1.00[ASN][1000 genomes]
rs11687193	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11688651	0.87[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690392	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690435	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690629	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690883	0.83[AMR][1000 genomes]
rs11694534	0.87[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694679	0.87[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12714304	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996578	0.87[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13007792	0.82[AMR][1000 genomes]
rs13027149	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030064	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422834	0.87[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34097147	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35163883	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951987	0.83[AMR][1000 genomes]
rs4952114	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62141090	1.00[ASN][1000 genomes]
rs62141122	1.00[ASN][1000 genomes]
rs6736034	0.82[CEU][hapmap]
rs829585	1.00[ASN][1000 genomes]
rs906864	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9967840	1.00[ASN][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv2662	chr2:30462905-30495134	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30476600-30496000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:30477000-30488800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:30477800-30489000	Weak transcription	Stomach Mucosa	stomach
4	chr2:30478000-30488400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:30478200-30488400	Weak transcription	Right Atrium	heart
6	chr2:30478600-30487400	Weak transcription	K562	blood
7	chr2:30479200-30489000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:30481000-30489400	Weak transcription	Small Intestine	intestine
9	chr2:30481400-30489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:30481600-30489200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:30482000-30489600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:30482200-30488400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:30482200-30489000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:30482200-30489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:30482400-30487000	Weak transcription	Fetal Intestine Large	intestine
16	chr2:30482400-30488400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:30482400-30489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:30482400-30489000	Weak transcription	Pancreas	Pancrea
19	chr2:30482400-30489000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:30482400-30491400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:30482600-30488400	Weak transcription	Lung	lung
22	chr2:30482600-30489000	Weak transcription	Esophagus	oesophagus
23	chr2:30482600-30489000	Weak transcription	Placenta	Placenta
24	chr2:30482800-30488400	Weak transcription	NH-A	brain
25	chr2:30482800-30489000	Weak transcription	Aorta	Aorta
26	chr2:30483000-30486400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:30483200-30488400	Weak transcription	Left Ventricle	heart
28	chr2:30483200-30488800	Weak transcription	Fetal Heart	heart
29	chr2:30483400-30487400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:30483400-30487400	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:30483400-30487600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:30483400-30488400	Weak transcription	Osteobl	bone
33	chr2:30483400-30488800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr2:30483600-30487000	Weak transcription	Spleen	Spleen
35	chr2:30483600-30489000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:30483800-30488400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:30483800-30488400	Weak transcription	Thymus	Thymus
38	chr2:30484000-30487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:30484000-30487200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:30484000-30487200	Weak transcription	Fetal Lung	lung
41	chr2:30484000-30488000	Weak transcription	Primary B cells from cord blood	blood
42	chr2:30484000-30488400	Weak transcription	HSMM	muscle
43	chr2:30484000-30488400	Weak transcription	HSMMtube	muscle
44	chr2:30484000-30488400	Weak transcription	NHDF-Ad	bronchial
45	chr2:30484000-30488400	Weak transcription	NHLF	lung
46	chr2:30484000-30488800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:30484600-30486400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr2:30485000-30486600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr2:30485000-30487400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:30485000-30488400	Enhancers	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links