Variant report

Variant	rs12379662
Chromosome Location	chr9:71361486-71361487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71361257..71364169-chr9:71367076..71369811,4	K562	blood:
2	chr9:71345141..71347064-chr9:71360683..71362254,2	K562	blood:
3	chr9:71354907..71358283-chr9:71360291..71362317,4	MCF-7	breast:
4	chr9:71360620..71364939-chr9:71391141..71394857,5	K562	blood:
5	chr9:71360686..71364939-chr9:71391201..71394992,4	K562	blood:

Variant related genes	Relation type
ENSG00000187866	Chromatin interaction
ENSG00000107242	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12340186	0.84[ASN][1000 genomes]
rs12380573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28704681	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45501692	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893415	chr9:71347988-71364351	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71343400-71363000	Weak transcription	GM12878-XiMat	blood
2	chr9:71351000-71370600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:71352400-71365800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:71354800-71361600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:71355000-71362000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr9:71355000-71364400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr9:71355000-71365400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:71355400-71361600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:71355600-71361600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:71355600-71364200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:71356200-71362400	Genic enhancers	Fetal Intestine Small	intestine
12	chr9:71356200-71364800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:71356600-71361600	Weak transcription	Colonic Mucosa	Colon
14	chr9:71356800-71362800	Weak transcription	Small Intestine	intestine
15	chr9:71357200-71363400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr9:71357800-71362600	Strong transcription	Primary B cells from cord blood	blood
17	chr9:71358800-71362400	Enhancers	Fetal Heart	heart
18	chr9:71359200-71361600	Weak transcription	Lung	lung
19	chr9:71359600-71361600	Enhancers	K562	blood
20	chr9:71359800-71362800	Enhancers	Stomach Mucosa	stomach
21	chr9:71360000-71370600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:71360200-71361600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr9:71360200-71365400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:71360200-71370600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr9:71360600-71361600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr9:71360600-71361600	Weak transcription	Right Atrium	heart
27	chr9:71360600-71364000	Weak transcription	HepG2	liver
28	chr9:71361200-71361800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:71361200-71362000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:71361200-71362200	Enhancers	Left Ventricle	heart
31	chr9:71361200-71362400	Enhancers	Placenta	Placenta
32	chr9:71361200-71363200	Enhancers	Fetal Intestine Large	intestine
33	chr9:71361400-71361600	Enhancers	Duodenum Mucosa	Duodenum
34	chr9:71361400-71361800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr9:71361400-71361800	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr9:71361400-71362200	Enhancers	Gastric	stomach
37	chr9:71361400-71362200	Enhancers	Pancreas	Pancrea
38	chr9:71361400-71362200	Enhancers	Right Ventricle	heart
39	chr9:71361400-71362200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr9:71361400-71362400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr9:71361400-71362600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:71361400-71363200	Enhancers	Brain Germinal Matrix	brain
43	chr9:71361400-71363400	Enhancers	Rectal Mucosa Donor 31	rectum

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