Variant report

Variant	rs58919380
Chromosome Location	chr12:120687543-120687544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr12:120687195-120687558	K562	blood:	n/a	n/a
2	MXI1	chr12:120687345-120687559	GM12878	blood:	n/a	n/a
3	TCF12	chr12:120687273-120687558	GM12878	blood:	n/a	chr12:120687406-120687416
4	TBL1XR1	chr12:120687261-120687628	K562	blood:	n/a	n/a
5	RUNX3	chr12:120687231-120687662	GM12878	blood:	n/a	n/a
6	TEAD4	chr12:120687171-120687669	K562	blood:	n/a	n/a
7	POLR2A	chr12:120687079-120688316	HUVEC	blood vessel:	n/a	n/a
8	MXI1	chr12:120687338-120687653	K562	blood:	n/a	n/a
9	MAX	chr12:120687204-120687581	K562	blood:	n/a	chr12:120687470-120687479
10	BHLHE40	chr12:120687225-120687895	K562	blood:	n/a	n/a
11	ZMIZ1	chr12:120687315-120687554	K562	blood:	n/a	n/a
12	EP300	chr12:120687274-120687623	K562	blood:	n/a	n/a
13	RCOR1	chr12:120687115-120687841	K562	blood:	n/a	n/a
14	RUNX3	chr12:120687241-120687637	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:120686890-120688841	PANC-1	pancreas:	n/a	n/a
16	MYC	chr12:120687489-120687672	K562	blood:	n/a	n/a
17	NR2F2	chr12:120687118-120687618	K562	blood:	n/a	n/a
18	POLR2A	chr12:120684586-120688694	PANC-1	pancreas:	n/a	n/a
19	EP300	chr12:120687344-120687546	GM12878	blood:	n/a	n/a
20	CCNT2	chr12:120687229-120687554	K562	blood:	n/a	chr12:120687346-120687355

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
2	chr12:120684888..120687057-chr12:120687063..120691406,4	MCF-7	breast:
3	chr12:120684404..120691478-chr12:120697984..120705218,14	MCF-7	breast:
4	chr12:120685214..120692467-chr12:120727115..120732311,17	K562	blood:
5	chr12:120685626..120692224-chr12:120727115..120732105,16	K562	blood:
6	chr12:120686832..120689716-chr12:120699360..120703521,4	K562	blood:

No data

Variant related genes	Relation type
PXN	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000240925	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1151821	0.96[ASN][1000 genomes]
rs1151822	0.93[ASN][1000 genomes]
rs1151823	1.00[ASN][1000 genomes]
rs1151826	1.00[ASN][1000 genomes]
rs1151828	1.00[ASN][1000 genomes]
rs1151833	1.00[ASN][1000 genomes]
rs1151835	1.00[ASN][1000 genomes]
rs1151836	1.00[ASN][1000 genomes]
rs1166788	1.00[ASN][1000 genomes]
rs1166789	0.95[ASN][1000 genomes]
rs1179386	0.95[ASN][1000 genomes]
rs12322327	0.95[ASN][1000 genomes]
rs12580333	0.95[ASN][1000 genomes]
rs1632619	1.00[ASN][1000 genomes]
rs1634820	0.96[ASN][1000 genomes]
rs2239207	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2283363	0.95[ASN][1000 genomes]
rs2701641	1.00[ASN][1000 genomes]
rs58777856	0.95[ASN][1000 genomes]
rs60134107	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60282545	0.95[ASN][1000 genomes]
rs61633133	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71541558	0.96[ASN][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	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	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
3	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
4	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120665200-120692000	Enhancers	Placenta	Placenta
2	chr12:120669800-120687600	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr12:120674200-120687600	Weak transcription	Fetal Kidney	kidney
4	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
5	chr12:120682000-120689000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:120682800-120687800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:120683200-120687600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:120683200-120687600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:120683200-120694800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:120683200-120695200	Weak transcription	Fetal Brain Male	brain
11	chr12:120684000-120692000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120684600-120687800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:120684600-120687800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:120684600-120688400	Enhancers	Pancreas	Pancrea
15	chr12:120684600-120690600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:120684800-120688200	Enhancers	Fetal Muscle Trunk	muscle
17	chr12:120684800-120688600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:120685000-120687800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:120685000-120688400	Enhancers	Brain Hippocampus Middle	brain
20	chr12:120685000-120688600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:120685000-120688600	Enhancers	Fetal Heart	heart
22	chr12:120685000-120688800	Genic enhancers	Fetal Intestine Small	intestine
23	chr12:120685000-120690600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:120685200-120688400	Enhancers	Brain Cingulate Gyrus	brain
25	chr12:120685200-120688600	Genic enhancers	Hela-S3	cervix
26	chr12:120685200-120688800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:120685200-120689000	Enhancers	K562	blood
28	chr12:120685400-120688400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:120685400-120688400	Enhancers	Esophagus	oesophagus
30	chr12:120685400-120689600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:120685400-120690400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:120685400-120691200	Enhancers	Spleen	Spleen
33	chr12:120685600-120687800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr12:120685800-120688200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:120685800-120688600	Enhancers	Fetal Intestine Large	intestine
36	chr12:120686000-120688000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:120686000-120688000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:120686000-120688600	Enhancers	Brain Substantia Nigra	brain
39	chr12:120686000-120688800	Enhancers	Osteobl	bone
40	chr12:120686000-120689200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr12:120686000-120691000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:120686000-120700200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:120686200-120687800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:120686200-120688000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:120686200-120688000	Weak transcription	Small Intestine	intestine
46	chr12:120686200-120688200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:120686200-120688800	Genic enhancers	NHLF	lung
48	chr12:120686400-120687600	Enhancers	NH-A	brain
49	chr12:120686400-120687800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:120686400-120687800	Weak transcription	HepG2	liver

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