Variant report

Variant	rs72787703
Chromosome Location	chr2:30444711-30444712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30426110..30428450-chr2:30443267..30445317,2	K562	blood:
2	chr2:30444710..30446228-chr2:30884155..30887092,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10209384	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11690883	1.00[ASN][1000 genomes]
rs11694985	1.00[ASN][1000 genomes]
rs13030740	1.00[ASN][1000 genomes]
rs55917643	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56160055	1.00[ASN][1000 genomes]
rs72785898	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787707	0.96[AMR][1000 genomes]
rs955214	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30432200-30444800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:30439800-30446200	Enhancers	Fetal Thymus	thymus
3	chr2:30440400-30446400	Enhancers	Thymus	Thymus
4	chr2:30440800-30448400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:30441000-30445600	Weak transcription	Spleen	Spleen
6	chr2:30441000-30446000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr2:30441000-30446200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:30441000-30446400	Weak transcription	Psoas Muscle	Psoas
9	chr2:30441000-30447800	Weak transcription	Right Atrium	heart
10	chr2:30441200-30446800	Weak transcription	Right Ventricle	heart
11	chr2:30441400-30445400	Weak transcription	GM12878-XiMat	blood
12	chr2:30441400-30446800	Weak transcription	Left Ventricle	heart
13	chr2:30441400-30446800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:30441400-30448000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:30441600-30445200	Weak transcription	Primary B cells from cord blood	blood
16	chr2:30441600-30445600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:30441800-30445200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:30441800-30446600	Enhancers	Fetal Heart	heart
19	chr2:30441800-30448000	Weak transcription	Esophagus	oesophagus
20	chr2:30442200-30446800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:30442200-30448000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:30442400-30447800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:30443000-30447800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:30443000-30447800	Weak transcription	Placenta	Placenta
25	chr2:30443400-30446800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:30443400-30448000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:30443600-30448000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:30444000-30445200	Enhancers	HMEC	breast
29	chr2:30444000-30447800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:30444000-30448000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr2:30444000-30448000	Weak transcription	Gastric	stomach
32	chr2:30444200-30446400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:30444200-30447800	Enhancers	Primary T cells from cord blood	blood
34	chr2:30444400-30447000	Weak transcription	Small Intestine	intestine
35	chr2:30444400-30448000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:30444600-30446800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr2:30444600-30447800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:30444600-30447800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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