Variant report

Variant	rs58777856
Chromosome Location	chr12:120672548-120672549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
2	chr12:120628211..120641965-chr12:120660551..120674110,39	K562	blood:
3	chr12:120671830..120673653-chr12:120697293..120699656,2	K562	blood:
4	chr12:120672506..120673092-chr12:120702928..120703999,3	MCF-7	breast:
5	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
6	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:
7	chr12:120672299..120674150-chr12:120713698..120715359,2	MCF-7	breast:
8	chr12:120672406..120672977-chr12:120703003..120703947,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089154	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000089159	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1151821	0.91[ASN][1000 genomes]
rs1151822	0.88[ASN][1000 genomes]
rs1151823	0.95[ASN][1000 genomes]
rs1151826	0.95[ASN][1000 genomes]
rs1151828	0.95[ASN][1000 genomes]
rs1151833	0.95[ASN][1000 genomes]
rs1151835	0.95[ASN][1000 genomes]
rs1151836	0.95[ASN][1000 genomes]
rs1166788	0.95[ASN][1000 genomes]
rs1166789	0.90[ASN][1000 genomes]
rs1179386	0.90[ASN][1000 genomes]
rs12322327	0.90[ASN][1000 genomes]
rs12580333	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1632619	0.95[ASN][1000 genomes]
rs1634820	0.91[ASN][1000 genomes]
rs2239207	0.95[ASN][1000 genomes]
rs2283363	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2701641	0.95[ASN][1000 genomes]
rs58919380	0.95[ASN][1000 genomes]
rs60134107	0.95[ASN][1000 genomes]
rs60282545	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61633133	0.95[ASN][1000 genomes]
rs71541558	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS 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	484 gene(s)	inside rSNPs	diseases
5	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
6	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers 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	436 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120664400-120675800	Enhancers	Stomach Mucosa	stomach
2	chr12:120665200-120692000	Enhancers	Placenta	Placenta
3	chr12:120665400-120673200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:120665400-120674200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:120665400-120676800	Enhancers	Fetal Heart	heart
6	chr12:120665400-120682200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:120665600-120673800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:120665600-120674200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:120665600-120674200	Enhancers	Fetal Lung	lung
10	chr12:120665600-120675400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:120665600-120682200	Enhancers	Left Ventricle	heart
12	chr12:120665800-120673600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:120665800-120674000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:120665800-120674400	Enhancers	Psoas Muscle	Psoas
15	chr12:120665800-120675400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:120666000-120672800	Enhancers	Right Atrium	heart
17	chr12:120666000-120674200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:120666000-120677200	Enhancers	Lung	lung
19	chr12:120666200-120686000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr12:120666800-120673200	Enhancers	Spleen	Spleen
21	chr12:120666800-120673800	Enhancers	Liver	Liver
22	chr12:120666800-120674000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:120666800-120674200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:120667400-120674200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr12:120667800-120673800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:120668200-120675400	Enhancers	Fetal Intestine Large	intestine
27	chr12:120668800-120674000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr12:120669000-120672600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:120669000-120672600	Weak transcription	Fetal Brain Female	brain
30	chr12:120669000-120672800	Enhancers	HepG2	liver
31	chr12:120669000-120674000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr12:120669000-120674200	Enhancers	Right Ventricle	heart
33	chr12:120669000-120675200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:120669000-120675400	Enhancers	HMEC	breast
35	chr12:120669200-120674200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:120669200-120674400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr12:120669200-120675400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:120669200-120676200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:120669400-120673800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:120669400-120677400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:120669400-120677800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr12:120669600-120674000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr12:120669600-120674200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr12:120669600-120674200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr12:120669600-120674200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr12:120669600-120675600	Weak transcription	Ovary	ovary
47	chr12:120669600-120676800	Enhancers	K562	blood
48	chr12:120669800-120672800	Enhancers	Colon Smooth Muscle	Colon
49	chr12:120669800-120673000	Enhancers	Fetal Muscle Leg	muscle
50	chr12:120669800-120674200	Enhancers	HUES6 Cell Line	embryonic stem cell

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