Variant report

Variant	rs73963998
Chromosome Location	chr2:145704255-145704256
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	chr2:145696000..145699095-chr2:145703578..145707289,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55881422	1.00[AFR][1000 genomes]
rs57483342	1.00[AFR][1000 genomes]
rs73963965	1.00[AFR][1000 genomes]
rs73963984	1.00[AFR][1000 genomes]
rs73963988	1.00[AFR][1000 genomes]
rs73963993	1.00[AFR][1000 genomes]
rs73964001	1.00[AFR][1000 genomes]
rs73965114	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145696200-145708800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:145699000-145704600	Enhancers	NHDF-Ad	bronchial
3	chr2:145699800-145705000	Enhancers	Fetal Intestine Large	intestine
4	chr2:145699800-145705000	Enhancers	Fetal Intestine Small	intestine
5	chr2:145700000-145705800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:145701200-145705000	Weak transcription	Psoas Muscle	Psoas
7	chr2:145702400-145704600	Enhancers	A549	lung
8	chr2:145702600-145708600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:145703000-145705200	Weak transcription	HUVEC	blood vessel
10	chr2:145703200-145708400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:145703200-145708400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:145703600-145705600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:145703600-145705800	Enhancers	Osteobl	bone
14	chr2:145703600-145706000	Enhancers	HMEC	breast
15	chr2:145703800-145704400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:145703800-145704400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:145703800-145704600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:145703800-145704600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:145703800-145704800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:145703800-145704800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:145703800-145705800	Enhancers	Fetal Lung	lung
22	chr2:145703800-145706000	Enhancers	NHEK	skin
23	chr2:145704000-145704400	Enhancers	NHLF	lung
24	chr2:145704000-145704800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:145704200-145708200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:145704200-145708400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:145704200-145708600	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links