Variant report

Variant	rs60134107
Chromosome Location	chr12:120685537-120685538
allele	A/G
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
2	chr12:120684404..120691478-chr12:120697984..120705218,14	MCF-7	breast:
3	chr12:120685214..120692467-chr12:120727115..120732311,17	K562	blood:
4	chr12:120683364..120686301-chr12:120702145..120704591,2	K562	blood:
5	chr12:120684888..120687057-chr12:120687063..120691406,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRT4-4	chr12:120685263-120685594	NONHSAT031128

No data

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000089159	Chromatin interaction

Extended variants
information (count: 28 )
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]
rs58919380	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:5 , 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
5	nsv976654	chr12:120683141-120685568	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120665200-120692000	Enhancers	Placenta	Placenta
2	chr12:120666200-120686000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr12:120669800-120687600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr12:120674200-120687600	Weak transcription	Fetal Kidney	kidney
5	chr12:120675800-120686400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:120676400-120687400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
8	chr12:120676800-120685800	Weak transcription	Small Intestine	intestine
9	chr12:120678800-120687200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:120679600-120687200	Weak transcription	Brain Angular Gyrus	brain
11	chr12:120679800-120685800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:120679800-120686000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:120680000-120686000	Weak transcription	Colonic Mucosa	Colon
14	chr12:120680000-120687000	Weak transcription	Brain Anterior Caudate	brain
15	chr12:120680200-120687400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:120680400-120685800	Weak transcription	Fetal Intestine Large	intestine
17	chr12:120680400-120687400	Weak transcription	Fetal Thymus	thymus
18	chr12:120681000-120686000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:120681000-120687200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:120681600-120685600	Weak transcription	HepG2	liver
21	chr12:120682000-120689000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:120682600-120686400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:120682800-120685600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr12:120682800-120687800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:120683000-120687200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:120683200-120685800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:120683200-120686000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:120683200-120686000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:120683200-120686000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:120683200-120686000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:120683200-120686000	Weak transcription	Brain Substantia Nigra	brain
32	chr12:120683200-120686000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr12:120683200-120686200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:120683200-120686200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:120683200-120687200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:120683200-120687200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:120683200-120687200	Weak transcription	Ovary	ovary
38	chr12:120683200-120687400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:120683200-120687400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:120683200-120687600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:120683200-120687600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:120683200-120694800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:120683200-120695200	Weak transcription	Fetal Brain Male	brain
44	chr12:120683400-120686000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:120683400-120686200	Weak transcription	Fetal Lung	lung
46	chr12:120683400-120686400	Weak transcription	Fetal Stomach	stomach
47	chr12:120683600-120686200	Enhancers	Psoas Muscle	Psoas
48	chr12:120684000-120685800	Enhancers	NHDF-Ad	bronchial
49	chr12:120684000-120692000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:120684600-120685600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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