Variant report

Variant	rs11127271
Chromosome Location	chr2:30558440-30558441
allele	A/G
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:4)

rs_ID	r²[population]
rs4496370	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4530413	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952122	0.88[EUR][1000 genomes]
rs7604316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv2663	chr2:30522750-30567544	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30553600-30559600	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:30553800-30559400	Enhancers	Primary T cells from cord blood	blood
3	chr2:30554000-30559600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr2:30554200-30569800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:30555000-30559600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr2:30555000-30559800	Enhancers	Fetal Thymus	thymus
7	chr2:30555200-30559600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:30555200-30559600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:30555200-30559800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:30555400-30559000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:30555400-30559800	Enhancers	Thymus	Thymus
12	chr2:30556000-30560400	Enhancers	Fetal Heart	heart
13	chr2:30556000-30561000	Enhancers	Spleen	Spleen
14	chr2:30556200-30559200	Enhancers	Fetal Muscle Leg	muscle
15	chr2:30556200-30560400	Enhancers	Left Ventricle	heart
16	chr2:30556800-30559800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:30557200-30559400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:30557200-30559600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:30557400-30558600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:30557400-30558800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:30557400-30559400	Enhancers	Adipose Nuclei	Adipose
22	chr2:30557400-30559400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:30557400-30559600	Enhancers	Right Atrium	heart
24	chr2:30557400-30559800	Enhancers	Dnd41	blood
25	chr2:30557400-30560400	Enhancers	Right Ventricle	heart
26	chr2:30557400-30561000	Enhancers	Primary hematopoietic stem cells	blood
27	chr2:30557600-30558600	Enhancers	Placenta	Placenta
28	chr2:30557600-30558600	Enhancers	Fetal Stomach	stomach
29	chr2:30557600-30558800	Enhancers	Lung	lung
30	chr2:30557600-30559200	Enhancers	Fetal Muscle Trunk	muscle
31	chr2:30557600-30560200	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:30557800-30558600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr2:30557800-30558600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr2:30557800-30558600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:30557800-30558600	Enhancers	A549	lung
36	chr2:30557800-30559000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr2:30557800-30559800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:30557800-30560000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:30557800-30560400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr2:30557800-30560400	Enhancers	Stomach Mucosa	stomach
41	chr2:30557800-30560600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:30558000-30558600	Enhancers	Fetal Lung	lung
43	chr2:30558000-30558800	Enhancers	NHDF-Ad	bronchial
44	chr2:30558000-30559800	Enhancers	Duodenum Mucosa	Duodenum
45	chr2:30558000-30569400	Weak transcription	Esophagus	oesophagus
46	chr2:30558200-30558600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr2:30558200-30559200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr2:30558200-30559200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:30558200-30559400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr2:30558200-30560000	Flanking Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links