Variant report

Variant	rs57103477
Chromosome Location	chr2:30911753-30911754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30906022..30908315-chr2:30910328..30911856,2	K562	blood:
2	chr2:30906815..30908445-chr2:30910356..30912110,2	K562	blood:
3	chr2:30901810..30903699-chr2:30911244..30913878,2	MCF-7	breast:
4	chr2:30905573..30907346-chr2:30910790..30912368,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57277283	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58314046	1.00[AMR][1000 genomes]
rs60227620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858985	1.00[AMR][1000 genomes]
rs72865461	1.00[AMR][1000 genomes]
rs72865472	1.00[AMR][1000 genomes]
rs72865478	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30902400-30954000	Weak transcription	Gastric	stomach
2	chr2:30902600-30912000	Weak transcription	Spleen	Spleen
3	chr2:30902600-30915600	Weak transcription	NHDF-Ad	bronchial
4	chr2:30908200-30912400	Weak transcription	Primary B cells from cord blood	blood
5	chr2:30908200-30915600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:30908600-30913400	Enhancers	Left Ventricle	heart
7	chr2:30908800-30911800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:30909000-30911800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:30909200-30911800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:30910000-30911800	Weak transcription	Aorta	Aorta
11	chr2:30910000-30911800	Weak transcription	Right Atrium	heart
12	chr2:30910600-30918200	Enhancers	Right Ventricle	heart
13	chr2:30911000-30912000	Enhancers	Fetal Brain Male	brain
14	chr2:30911000-30912000	Enhancers	Fetal Muscle Leg	muscle
15	chr2:30911200-30911800	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:30911200-30912400	Enhancers	Fetal Heart	heart
17	chr2:30911200-30912600	Enhancers	Fetal Brain Female	brain
18	chr2:30911200-30912600	Enhancers	Fetal Lung	lung
19	chr2:30911200-30912800	Enhancers	Brain Germinal Matrix	brain
20	chr2:30911200-30913400	Enhancers	HSMMtube	muscle
21	chr2:30911600-30911800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:30911600-30911800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr2:30911600-30913400	Enhancers	Colon Smooth Muscle	Colon
24	chr2:30911600-30913400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr2:30911600-30913400	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:30911600-30913400	Enhancers	Skeletal Muscle Male	skeletal muscle

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