Variant report

Variant	rs1151837
Chromosome Location	chr12:120701764-120701765
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120684404..120691478-chr12:120697984..120705218,14	MCF-7	breast:
2	chr12:120686832..120689716-chr12:120699360..120703521,4	K562	blood:
3	chr12:120699116..120708865-chr12:120725013..120732311,37	K562	blood:
4	chr12:120663104..120670865-chr12:120700603..120705016,22	K562	blood:
5	chr12:120634894..120637114-chr12:120700788..120703136,2	K562	blood:
6	chr12:120697928..120706288-chr12:120725352..120732223,30	K562	blood:
7	chr12:120665861..120666752-chr12:120701589..120702635,3	MCF-7	breast:
8	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
9	chr12:120634142..120641127-chr12:120698850..120705439,14	K562	blood:
10	chr12:120687678..120692479-chr12:120701581..120703521,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000089159	Chromatin interaction
ENSG00000240925	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10849739	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11065035	0.91[JPT][hapmap]
rs11065036	0.90[JPT][hapmap]
rs11065061	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11065064	0.96[EUR][1000 genomes]
rs1151824	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1151825	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1151827	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1151830	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1151832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1182859	0.81[ASN][1000 genomes]
rs1182860	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11831552	0.98[EUR][1000 genomes]
rs1183781	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12164847	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12305146	0.95[EUR][1000 genomes]
rs12308431	0.85[EUR][1000 genomes]
rs12310433	0.91[JPT][hapmap]
rs12312562	0.90[JPT][hapmap]
rs12321884	0.86[ASN][1000 genomes]
rs12581983	0.90[ASN][1000 genomes]
rs1634814	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1634815	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2006194	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2074540	0.90[JPT][hapmap]
rs2238155	0.81[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs2238156	0.98[EUR][1000 genomes]
rs2238157	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2239208	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2240312	0.90[JPT][hapmap]
rs2240317	0.90[JPT][hapmap]
rs2240318	0.90[JPT][hapmap]
rs2240321	0.90[JPT][hapmap]
rs2240322	0.90[JPT][hapmap]
rs2240323	0.90[JPT][hapmap]
rs2240325	0.86[JPT][hapmap]
rs2269941	0.90[JPT][hapmap]
rs2269944	0.91[JPT][hapmap]
rs2269945	0.90[JPT][hapmap]
rs2283362	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2283364	0.81[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2283365	0.99[EUR][1000 genomes]
rs2286049	0.91[JPT][hapmap]
rs2286050	0.90[JPT][hapmap]
rs2286051	0.91[JPT][hapmap]
rs2422	0.81[JPT][hapmap]
rs2524391	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3742039	0.86[JPT][hapmap]
rs3759397	0.98[EUR][1000 genomes]
rs3888586	0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs3888587	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs3888588	0.99[EUR][1000 genomes]
rs3890165	0.98[EUR][1000 genomes]
rs3956833	0.88[CEU][hapmap];0.98[EUR][1000 genomes]
rs4767886	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs61198412	0.98[EUR][1000 genomes]
rs7134706	0.90[JPT][hapmap]
rs7296380	0.90[JPT][hapmap]
rs7300273	0.98[EUR][1000 genomes]
rs739809	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7953949	0.98[EUR][1000 genomes]
rs7966099	1.00[CEU][hapmap];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
7	nsv560436	chr12:120697470-120705828	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120695400-120702000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120696200-120701800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:120697400-120702000	Enhancers	Spleen	Spleen
4	chr12:120698600-120702400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:120698600-120702800	Enhancers	Small Intestine	intestine
6	chr12:120698800-120702600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:120699400-120701800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:120699400-120702200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr12:120699400-120702600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:120699400-120702800	Transcr. at gene 5' and 3'	NHEK	skin
11	chr12:120699600-120701800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:120699600-120702000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:120699600-120702000	Enhancers	Fetal Lung	lung
14	chr12:120699600-120702000	Enhancers	Fetal Thymus	thymus
15	chr12:120699600-120702000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr12:120699600-120702200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr12:120699600-120702400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr12:120699600-120702400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:120699600-120702400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr12:120699600-120702400	Enhancers	Stomach Mucosa	stomach
21	chr12:120699600-120702400	Flanking Active TSS	HepG2	liver
22	chr12:120699600-120702800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:120699600-120702800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr12:120699600-120703000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:120699600-120703000	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr12:120699600-120703000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:120699600-120703200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr12:120699600-120703600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:120699800-120701800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr12:120699800-120701800	Enhancers	Liver	Liver
31	chr12:120699800-120702000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:120699800-120702200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:120699800-120702200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr12:120699800-120702400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:120699800-120702600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:120699800-120703000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr12:120699800-120703000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr12:120699800-120703000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:120699800-120703200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr12:120700000-120701800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:120700000-120702400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:120700000-120702400	Enhancers	Fetal Heart	heart
43	chr12:120700000-120702400	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr12:120700000-120702400	Flanking Active TSS	Osteobl	bone
45	chr12:120700000-120702600	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr12:120700000-120702600	Enhancers	K562	blood
47	chr12:120700000-120702800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr12:120700000-120702800	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr12:120700000-120702800	Flanking Active TSS	HUVEC	blood vessel
50	chr12:120700000-120702800	Flanking Active TSS	NH-A	brain

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