Variant report

Variant	rs12352986
Chromosome Location	chr9:100985826-100985827
allele	G/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:100985570..100988965-chr9:100991767..100994360,5	MCF-7	breast:
2	chr9:100974489..100979508-chr9:100984246..100988193,5	MCF-7	breast:
3	chr9:100984465..100987162-chr9:100987810..100989533,3	K562	blood:
4	chr9:100978764..100982569-chr9:100985493..100988173,3	K562	blood:
5	chr9:100940296..100942247-chr9:100983555..100986417,2	MCF-7	breast:
6	chr9:100984988..100987219-chr9:101017496..101019416,2	MCF-7	breast:
7	chr9:100978143..100990074-chr9:101014745..101021064,26	MCF-7	breast:
8	chr9:100983381..100985865-chr9:101008281..101010298,2	K562	blood:
9	chr9:100984926..100990430-chr9:100990519..100995039,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000095383	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10046819	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10114211	1.00[ASN][1000 genomes]
rs10117265	1.00[CHB][hapmap]
rs10217245	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10217347	1.00[AMR][1000 genomes]
rs10217398	1.00[AMR][1000 genomes]
rs10217458	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10441752	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10818608	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10985391	0.85[AMR][1000 genomes]
rs10985395	1.00[AMR][1000 genomes]
rs10985425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10985528	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10985545	1.00[ASN][1000 genomes]
rs10985570	1.00[ASN][1000 genomes]
rs10985573	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10985578	1.00[ASN][1000 genomes]
rs10985730	1.00[ASN][1000 genomes]
rs12339078	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342843	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342968	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345418	1.00[AMR][1000 genomes]
rs12346761	1.00[AMR][1000 genomes]
rs12347046	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12348326	1.00[AMR][1000 genomes]
rs12351571	1.00[ASN][1000 genomes]
rs12551524	1.00[AMR][1000 genomes]
rs12554925	1.00[AMR][1000 genomes]
rs16914199	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16914443	1.00[ASN][1000 genomes]
rs16915689	1.00[CHB][hapmap]
rs17690174	1.00[CHB][hapmap]
rs28524952	1.00[ASN][1000 genomes]
rs28578965	1.00[ASN][1000 genomes]
rs34562398	1.00[ASN][1000 genomes]
rs36074616	1.00[ASN][1000 genomes]
rs41273923	1.00[ASN][1000 genomes]
rs41273925	1.00[ASN][1000 genomes]
rs41283618	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742725	1.00[ASN][1000 genomes]
rs553139	1.00[CHB][hapmap]
rs55974101	1.00[ASN][1000 genomes]
rs57611604	1.00[ASN][1000 genomes]
rs583115	1.00[CHB][hapmap]
rs58371820	1.00[ASN][1000 genomes]
rs59519660	1.00[ASN][1000 genomes]
rs61201457	1.00[ASN][1000 genomes]
rs644842	1.00[CHB][hapmap]
rs6478670	1.00[CHB][hapmap]
rs73490714	1.00[ASN][1000 genomes]
rs73490718	1.00[ASN][1000 genomes]
rs73490720	1.00[ASN][1000 genomes]
rs73490723	1.00[ASN][1000 genomes]
rs73490727	1.00[ASN][1000 genomes]
rs73490728	1.00[ASN][1000 genomes]
rs9299277	1.00[CHB][hapmap];1.00[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	nsv1053729	chr9:100909554-100997718	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100955800-101003200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:100961400-101001400	Weak transcription	Right Atrium	heart
3	chr9:100968000-100987000	Weak transcription	Small Intestine	intestine
4	chr9:100968400-100995600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr9:100968400-100997600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr9:100968600-101010400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr9:100968800-100998000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:100968800-101011000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr9:100969400-101004800	Weak transcription	Brain Germinal Matrix	brain
10	chr9:100969600-100997200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr9:100969800-100991800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr9:100970200-101001600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr9:100974800-101010600	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:100976400-100998800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:100978800-100986200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr9:100980200-101010200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr9:100980800-100986000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr9:100981600-100987600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:100981800-101010400	Weak transcription	Fetal Thymus	thymus
20	chr9:100982200-100990800	Weak transcription	Primary B cells from cord blood	blood
21	chr9:100982200-100991200	Weak transcription	Fetal Lung	lung
22	chr9:100982400-100987000	Weak transcription	Liver	Liver
23	chr9:100982600-100987600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:100982800-101004600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr9:100983000-100990400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr9:100983000-101007200	Weak transcription	Fetal Brain Male	brain
27	chr9:100983200-100989400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr9:100983200-100990800	Weak transcription	Brain Anterior Caudate	brain
29	chr9:100983200-100992600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:100983200-100996600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:100983200-100997600	Weak transcription	Fetal Brain Female	brain
32	chr9:100983400-100987600	Weak transcription	Colonic Mucosa	Colon
33	chr9:100983400-100987800	Weak transcription	Thymus	Thymus
34	chr9:100983400-100988200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr9:100983400-100990600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr9:100983400-101006200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:100983600-100987200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr9:100983600-100987600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr9:100983600-100988000	Weak transcription	Brain Hippocampus Middle	brain
40	chr9:100983600-100988800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr9:100983600-100990800	Weak transcription	Right Ventricle	heart
42	chr9:100983600-100994000	Weak transcription	Brain Angular Gyrus	brain
43	chr9:100983800-100987000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr9:100983800-100987200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr9:100983800-100987400	Weak transcription	Adipose Nuclei	Adipose
46	chr9:100983800-100987600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr9:100983800-100988000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr9:100983800-100988600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr9:100983800-100988800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr9:100983800-100989200	Weak transcription	H1 Cell Line	embryonic stem cell

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