Variant report

Variant	rs1151823
Chromosome Location	chr12:120677411-120677412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
2	chr12:120631699..120641379-chr12:120675218..120683260,16	K562	blood:
3	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
4	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:
5	chr12:120675377..120678015-chr12:120698703..120700333,2	K562	blood:
6	chr12:120636299..120641088-chr12:120677088..120682968,7	K562	blood:

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

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1151821	0.96[ASN][1000 genomes]
rs1151822	0.93[ASN][1000 genomes]
rs1151826	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1151828	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1151831	0.85[AFR][1000 genomes]
rs1151833	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1151835	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1151836	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1166788	1.00[AMR][1000 genomes];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	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1732868	0.83[AFR][1000 genomes]
rs2239207	1.00[ASN][1000 genomes]
rs2283363	0.95[ASN][1000 genomes]
rs2524389	0.81[AFR][1000 genomes]
rs2701641	1.00[ASN][1000 genomes]
rs58777856	0.95[ASN][1000 genomes]
rs58919380	1.00[ASN][1000 genomes]
rs60134107	1.00[ASN][1000 genomes]
rs60282545	0.95[ASN][1000 genomes]
rs61633133	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120665200-120692000	Enhancers	Placenta	Placenta
2	chr12:120665400-120682200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:120665600-120682200	Enhancers	Left Ventricle	heart
4	chr12:120666200-120686000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr12:120669400-120677800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:120669800-120678000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:120669800-120679400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:120669800-120687600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr12:120671800-120682800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:120672200-120680400	Enhancers	Fetal Thymus	thymus
11	chr12:120673400-120679000	Enhancers	Spleen	Spleen
12	chr12:120673800-120679000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:120673800-120682800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:120674000-120678000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:120674000-120678800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:120674000-120679200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:120674000-120679800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:120674200-120677800	Weak transcription	HepG2	liver
19	chr12:120674200-120678400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:120674200-120679200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:120674200-120679200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:120674200-120682800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:120674200-120687600	Weak transcription	Fetal Kidney	kidney
24	chr12:120674400-120683400	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr12:120675000-120678400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:120675200-120680200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr12:120675200-120680400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr12:120675400-120678000	Weak transcription	Gastric	stomach
29	chr12:120675400-120678600	Genic enhancers	HMEC	breast
30	chr12:120675400-120679200	Enhancers	Psoas Muscle	Psoas
31	chr12:120675400-120682000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr12:120675800-120681000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:120675800-120682000	Genic enhancers	Fetal Muscle Leg	muscle
34	chr12:120675800-120685000	Weak transcription	Stomach Mucosa	stomach
35	chr12:120675800-120686400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr12:120676200-120678400	Weak transcription	Thymus	Thymus
37	chr12:120676400-120678000	Weak transcription	Fetal Lung	lung
38	chr12:120676400-120678400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:120676400-120678400	Enhancers	Stomach Smooth Muscle	stomach
40	chr12:120676400-120678800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:120676400-120679200	Enhancers	HUVEC	blood vessel
42	chr12:120676400-120679400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:120676400-120682600	Weak transcription	Ovary	ovary
44	chr12:120676400-120685000	Genic enhancers	NHEK	skin
45	chr12:120676400-120687400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
47	chr12:120676600-120677800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr12:120676600-120678000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:120676600-120678000	Weak transcription	Fetal Intestine Large	intestine
50	chr12:120676600-120679600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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