Variant report

Variant	rs62152795
Chromosome Location	chr2:97487699-97487700
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97426560..97429669-chr2:97487357..97491316,3	MCF-7	breast:
2	chr2:97481554..97483965-chr2:97485690..97489331,4	K562	blood:
3	chr2:97484998..97487772-chr2:97534907..97536909,2	MCF-7	breast:
4	chr2:97303032..97305176-chr2:97485535..97487811,2	K562	blood:

Variant related genes	Relation type
ENSG00000168763	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000168758	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11897786	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12846	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1317911	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320149	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419073	0.83[AMR][1000 genomes]
rs17119598	0.87[EUR][1000 genomes]
rs2276654	0.84[EUR][1000 genomes]
rs3731941	0.82[EUR][1000 genomes]
rs55674661	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58147284	0.83[AMR][1000 genomes]
rs62152788	0.82[EUR][1000 genomes]
rs62152790	0.84[EUR][1000 genomes]
rs62152793	0.87[EUR][1000 genomes]
rs62152794	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6576989	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7580942	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7594727	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608621	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62152795	FAHD2CP	cis	Muscle Skeletal	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97483000-97490800	Enhancers	Fetal Heart	heart
2	chr2:97483600-97488600	Weak transcription	Aorta	Aorta
3	chr2:97483600-97490000	Weak transcription	NH-A	brain
4	chr2:97483600-97492200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:97483600-97493400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:97483600-97493400	Weak transcription	HSMMtube	muscle
7	chr2:97483600-97498200	Weak transcription	HSMM	muscle
8	chr2:97483800-97488600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:97483800-97490000	Genic enhancers	Fetal Muscle Leg	muscle
10	chr2:97483800-97492200	Weak transcription	NHLF	lung
11	chr2:97483800-97493200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:97483800-97493400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:97483800-97493600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:97483800-97494400	Weak transcription	Osteobl	bone
15	chr2:97483800-97498400	Weak transcription	NHDF-Ad	bronchial
16	chr2:97484000-97488400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:97484000-97493200	Weak transcription	Fetal Kidney	kidney
18	chr2:97484000-97493600	Weak transcription	NHEK	skin
19	chr2:97484400-97489400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:97484600-97488600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:97484600-97489400	Genic enhancers	Fetal Thymus	thymus
22	chr2:97484600-97518400	Weak transcription	HUVEC	blood vessel
23	chr2:97484800-97488400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:97484800-97493600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:97485200-97490800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:97485200-97490800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:97485200-97498400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:97485400-97488200	Enhancers	Fetal Intestine Large	intestine
29	chr2:97485400-97488200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:97485600-97493400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:97485800-97488200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:97485800-97488400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:97485800-97490600	Genic enhancers	Fetal Intestine Small	intestine
34	chr2:97486000-97488400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:97486000-97505000	Strong transcription	Fetal Stomach	stomach
36	chr2:97486200-97488600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:97486200-97488800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:97486200-97489400	Weak transcription	A549	lung
39	chr2:97486400-97488200	Weak transcription	Placenta	Placenta
40	chr2:97486400-97488200	Weak transcription	Ovary	ovary
41	chr2:97486400-97488600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:97486400-97488600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:97486400-97488600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:97486600-97488000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:97486600-97488000	Enhancers	Pancreas	Pancrea
46	chr2:97486600-97488200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:97486600-97488200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:97486600-97488200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:97486600-97488600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:97486600-97488600	Weak transcription	Lung	lung

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