Variant report

Variant	rs57076287
Chromosome Location	chr2:30628012-30628013
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30627344..30629722-chr2:30630917..30632644,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs4356698	1.00[AMR][1000 genomes]
rs55816765	1.00[AMR][1000 genomes]
rs55987207	1.00[AMR][1000 genomes]
rs57128291	1.00[AMR][1000 genomes]
rs58020576	1.00[AMR][1000 genomes]
rs58426874	1.00[AMR][1000 genomes]
rs59728852	1.00[AMR][1000 genomes]
rs60883034	1.00[AMR][1000 genomes]
rs60893697	1.00[AMR][1000 genomes]
rs61045659	1.00[AMR][1000 genomes]
rs6735668	0.84[AFR][1000 genomes]
rs73925136	1.00[AMR][1000 genomes]
rs73925138	1.00[AMR][1000 genomes]
rs73925142	1.00[AMR][1000 genomes]
rs73925144	1.00[AMR][1000 genomes]
rs73925145	1.00[AMR][1000 genomes]
rs73925146	1.00[AMR][1000 genomes]
rs73925147	1.00[AMR][1000 genomes]
rs73925148	1.00[AMR][1000 genomes]
rs73925149	1.00[AMR][1000 genomes]
rs73925154	1.00[AMR][1000 genomes]
rs73925159	1.00[AFR][1000 genomes];1.00[AMR][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	nsv581262	chr2:30623062-30633796	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30619400-30637200	Enhancers	Fetal Stomach	stomach
2	chr2:30621400-30630400	Weak transcription	Aorta	Aorta
3	chr2:30622800-30630400	Enhancers	Colon Smooth Muscle	Colon
4	chr2:30624400-30629400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:30624800-30633200	Enhancers	Fetal Heart	heart
6	chr2:30625000-30628600	Enhancers	Fetal Muscle Leg	muscle
7	chr2:30625000-30636200	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:30625600-30628800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr2:30626000-30628200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:30626000-30628400	Enhancers	Fetal Intestine Small	intestine
11	chr2:30626000-30628600	Enhancers	Fetal Lung	lung
12	chr2:30626000-30628800	Enhancers	Fetal Intestine Large	intestine
13	chr2:30626000-30633800	Enhancers	Left Ventricle	heart
14	chr2:30626000-30634000	Enhancers	Right Ventricle	heart
15	chr2:30626000-30638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:30626200-30628200	Enhancers	Adipose Nuclei	Adipose
17	chr2:30626400-30628800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:30626600-30628200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:30626600-30628400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:30626600-30628400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:30626600-30628600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:30626600-30628800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:30626600-30629400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:30626600-30629800	Enhancers	Ovary	ovary
25	chr2:30626800-30628200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:30626800-30628200	Enhancers	Fetal Kidney	kidney
27	chr2:30626800-30628600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:30626800-30628800	Enhancers	Fetal Thymus	thymus
29	chr2:30627000-30628200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:30627000-30628200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr2:30627000-30628200	Enhancers	Right Atrium	heart
32	chr2:30627000-30628400	Enhancers	NHDF-Ad	bronchial
33	chr2:30627000-30628400	Enhancers	NHLF	lung
34	chr2:30627200-30628200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:30627200-30628400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr2:30627200-30628400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr2:30627200-30628600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr2:30627200-30631000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:30627400-30628200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr2:30627400-30628200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr2:30627400-30628200	Enhancers	Placenta	Placenta
42	chr2:30627400-30628200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr2:30627400-30628600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr2:30627400-30628800	Enhancers	Primary T cells from cord blood	blood
45	chr2:30627400-30628800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr2:30627600-30628200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr2:30627600-30628400	Enhancers	Small Intestine	intestine
48	chr2:30627600-30628400	Enhancers	Thymus	Thymus
49	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
50	chr2:30627800-30628200	Enhancers	Stomach Smooth Muscle	stomach

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