Variant report

Variant	rs12110787
Chromosome Location	chr6:161474966-161474967
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161467892..161471897-chr6:161472211..161475123,4	K562	blood:
2	chr6:161474692..161476468-chr6:161493026..161495144,2	K562	blood:
3	chr6:161474546..161476528-chr6:161476872..161479203,2	K562	blood:

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12174748	0.87[ASN][1000 genomes]
rs1980328	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2140650	0.82[ASN][1000 genomes]
rs2314378	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3734461	0.84[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3798912	0.89[ASN][1000 genomes]
rs3798913	0.89[ASN][1000 genomes]
rs3798915	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4324757	0.88[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs4709488	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs594555	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs594602	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs630006	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6455702	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs671335	0.86[EUR][1000 genomes]
rs6901173	1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6901968	1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs7746515	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9295134	0.82[CHD][hapmap];0.88[GIH][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9295138	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9355327	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9355870	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9365246	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9456620	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9458102	0.90[AMR][1000 genomes];0.81[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	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161416600-161475200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:161435000-161490400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:161443800-161478600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:161449000-161494400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:161452800-161489400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:161453600-161506600	Weak transcription	Small Intestine	intestine
7	chr6:161455200-161495800	Weak transcription	Fetal Brain Male	brain
8	chr6:161456400-161501600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:161456800-161477000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:161456800-161485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:161459400-161488800	Weak transcription	Brain Angular Gyrus	brain
12	chr6:161459400-161508800	Weak transcription	Hela-S3	cervix
13	chr6:161459800-161496600	Weak transcription	Fetal Kidney	kidney
14	chr6:161459800-161502800	Weak transcription	HUVEC	blood vessel
15	chr6:161460000-161499200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:161460400-161487200	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:161460400-161488800	Weak transcription	Fetal Heart	heart
18	chr6:161460600-161495600	Weak transcription	HSMMtube	muscle
19	chr6:161462000-161478400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:161462800-161477400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:161462800-161478400	Weak transcription	Esophagus	oesophagus
22	chr6:161462800-161485800	Weak transcription	Aorta	Aorta
23	chr6:161462800-161497200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:161462800-161497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:161462800-161508200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:161463000-161489000	Weak transcription	Fetal Brain Female	brain
27	chr6:161463000-161491600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:161463200-161488000	Weak transcription	Ovary	ovary
29	chr6:161463400-161491600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:161463600-161495600	Weak transcription	Pancreas	Pancrea
31	chr6:161463800-161499200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:161465400-161478200	Weak transcription	NHEK	skin
33	chr6:161469600-161476200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:161469800-161475000	Strong transcription	Primary B cells from cord blood	blood
35	chr6:161470000-161475200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:161470400-161478400	Weak transcription	HMEC	breast
37	chr6:161470400-161495000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:161470600-161488800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:161470600-161492000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:161470600-161493800	Weak transcription	Fetal Thymus	thymus
41	chr6:161470600-161508000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:161470800-161478600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:161470800-161484400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:161470800-161485800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:161470800-161485800	Weak transcription	Gastric	stomach
46	chr6:161470800-161485800	Weak transcription	Thymus	Thymus
47	chr6:161470800-161491600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:161470800-161491600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:161471000-161478200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:161471000-161481400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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