Variant report

Variant	rs57804195
Chromosome Location	chr2:145593017-145593018
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	chr2:145276106..145279120-chr2:145591555..145594624,3	K562	blood:

Variant related genes	Relation type
ENSG00000238057	Chromatin interaction
ENSG00000169554	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73963933	0.83[AFR][1000 genomes];0.85[AMR][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	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145592000-145593400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:145592000-145593400	Enhancers	Fetal Brain Male	brain
3	chr2:145592000-145594200	Enhancers	Osteobl	bone
4	chr2:145592000-145594400	Enhancers	Fetal Lung	lung
5	chr2:145592000-145594400	Enhancers	HMEC	breast
6	chr2:145592000-145594600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:145592000-145595200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:145592000-145595600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:145592200-145593800	Enhancers	Fetal Brain Female	brain
10	chr2:145592200-145593800	Flanking Active TSS	A549	lung
11	chr2:145592200-145595000	Enhancers	NHDF-Ad	bronchial
12	chr2:145592400-145593200	Flanking Active TSS	K562	blood
13	chr2:145592400-145593400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr2:145592400-145593400	Active TSS	Stomach Smooth Muscle	stomach
15	chr2:145592400-145593400	Enhancers	HSMMtube	muscle
16	chr2:145592400-145593600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:145592400-145593600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:145592400-145593600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:145592400-145593600	Enhancers	Adipose Nuclei	Adipose
20	chr2:145592400-145593800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr2:145592400-145593800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:145592400-145593800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:145592400-145593800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:145592400-145593800	Enhancers	Brain Germinal Matrix	brain
25	chr2:145592400-145593800	Enhancers	HSMM	muscle
26	chr2:145592400-145594000	Enhancers	Fetal Stomach	stomach
27	chr2:145592400-145594400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:145592400-145594400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:145592400-145594600	Enhancers	Fetal Kidney	kidney
30	chr2:145592400-145594600	Enhancers	Fetal Muscle Leg	muscle
31	chr2:145592600-145593200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:145592600-145593200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr2:145592600-145593200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:145592600-145593200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:145592600-145593200	Flanking Active TSS	NHLF	lung
36	chr2:145592600-145593400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:145592600-145593600	Enhancers	Brain Substantia Nigra	brain
38	chr2:145592600-145593800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:145592600-145594200	Enhancers	NHEK	skin
40	chr2:145592600-145594400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:145592600-145594600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:145592600-145594600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:145592600-145595400	Enhancers	HUVEC	blood vessel
44	chr2:145592800-145593200	Active TSS	Brain Anterior Caudate	brain
45	chr2:145592800-145593800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:145592800-145594200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:145592800-145594600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr2:145593000-145593200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:145593000-145593600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr2:145593000-145593600	Enhancers	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links