Variant report

Variant	rs1632619
Chromosome Location	chr12:120691149-120691150
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr12:120691122-120691570	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:120690806-120691182	PANC-1	pancreas:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120690051..120707499-chr12:120720410..120732530,91	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	chr12:120631592..120634206-chr12:120689863..120692098,2	K562	blood:
5	chr12:120687814..120689753-chr12:120689837..120693195,3	K562	blood:
6	chr12:120685214..120692467-chr12:120727115..120732311,17	K562	blood:
7	chr12:120685626..120692224-chr12:120727115..120732105,16	K562	blood:
8	chr12:120690570..120692197-chr12:120693845..120695408,2	K562	blood:
9	chr12:120687678..120692479-chr12:120701581..120703521,4	K562	blood:

No data

Variant related genes	Relation type
PXN	TF binding region
ENSG00000240925	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1151821	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1151822	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];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	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1179386	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12322327	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12580333	0.95[ASN][1000 genomes]
rs1634820	0.96[ASN][1000 genomes]
rs16950118	1.00[EUR][1000 genomes]
rs2239207	1.00[ASN][1000 genomes]
rs2283363	0.95[ASN][1000 genomes]
rs2701641	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56836390	1.00[EUR][1000 genomes]
rs58682372	1.00[EUR][1000 genomes]
rs58777856	0.95[ASN][1000 genomes]
rs58919380	1.00[ASN][1000 genomes]
rs59470045	1.00[EUR][1000 genomes]
rs59643776	1.00[EUR][1000 genomes]
rs60134107	1.00[ASN][1000 genomes]
rs60282545	0.95[ASN][1000 genomes]
rs61633133	1.00[ASN][1000 genomes]
rs7139220	1.00[EUR][1000 genomes]
rs71541558	0.96[ASN][1000 genomes]
rs7300790	1.00[EUR][1000 genomes]
rs7303640	1.00[EUR][1000 genomes]
rs73410812	1.00[EUR][1000 genomes]
rs73410821	1.00[EUR][1000 genomes]
rs73410841	1.00[EUR][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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120665200-120692000	Enhancers	Placenta	Placenta
2	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
3	chr12:120683200-120694800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:120683200-120695200	Weak transcription	Fetal Brain Male	brain
5	chr12:120684000-120692000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:120685400-120691200	Enhancers	Spleen	Spleen
7	chr12:120686000-120700200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:120686600-120692800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:120686600-120693200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:120686600-120695000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:120687600-120693200	Genic enhancers	NHEK	skin
12	chr12:120688000-120692800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:120688000-120693000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:120688000-120694000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:120688000-120694000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:120688000-120694200	Weak transcription	Brain Angular Gyrus	brain
17	chr12:120688000-120694200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:120688000-120695200	Weak transcription	Gastric	stomach
19	chr12:120688200-120692000	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:120688200-120694800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:120688200-120695000	Weak transcription	Liver	Liver
22	chr12:120688400-120691200	Enhancers	Adipose Nuclei	Adipose
23	chr12:120688400-120692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:120688400-120692200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:120688400-120692800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:120688400-120694000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:120688400-120694200	Weak transcription	Pancreas	Pancrea
28	chr12:120688400-120694400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:120688400-120694800	Weak transcription	Esophagus	oesophagus
30	chr12:120688600-120692800	Weak transcription	Fetal Lung	lung
31	chr12:120688600-120694000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:120688600-120694000	Weak transcription	Brain Substantia Nigra	brain
33	chr12:120688600-120694200	Weak transcription	Fetal Heart	heart
34	chr12:120688600-120694200	Weak transcription	Stomach Mucosa	stomach
35	chr12:120688600-120700200	Weak transcription	Fetal Kidney	kidney
36	chr12:120688800-120694000	Weak transcription	Brain Anterior Caudate	brain
37	chr12:120688800-120694000	Weak transcription	Right Ventricle	heart
38	chr12:120688800-120694200	Weak transcription	HepG2	liver
39	chr12:120689400-120691200	Weak transcription	Fetal Intestine Small	intestine
40	chr12:120689400-120691600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr12:120689400-120691600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr12:120689400-120692000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr12:120689400-120692200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:120689400-120692200	Enhancers	GM12878-XiMat	blood
45	chr12:120689400-120692400	Weak transcription	Fetal Stomach	stomach
46	chr12:120689400-120692600	Enhancers	Primary hematopoietic stem cells	blood
47	chr12:120689400-120693200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:120689600-120691200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:120689600-120691200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr12:120689600-120691400	Genic enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links