Variant report

Variant	rs12380442
Chromosome Location	chr9:93666989-93666990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93664277..93666990-chr9:93670141..93672637,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10117309	0.91[EUR][1000 genomes]
rs10991691	0.91[EUR][1000 genomes]
rs10993757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10993758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10993761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10993763	0.91[EUR][1000 genomes]
rs10993764	0.88[EUR][1000 genomes]
rs12238239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12380181	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1471292	0.91[EUR][1000 genomes]
rs1585461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28476556	0.91[EUR][1000 genomes]
rs2892367	0.91[EUR][1000 genomes]
rs7039789	0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][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	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831652	chr9:93527411-93696923	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv893568	chr9:93539879-93774385	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1038685	chr9:93556174-93685729	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1039761	chr9:93598856-93677831	Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1039326	chr9:93598856-93685729	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1053252	chr9:93610132-93699103	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93652600-93667200	Weak transcription	Gastric	stomach
2	chr9:93658800-93683400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:93660400-93671400	Weak transcription	GM12878-XiMat	blood
4	chr9:93662000-93670400	Weak transcription	Fetal Lung	lung
5	chr9:93662000-93677000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:93662200-93667600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:93662400-93671200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr9:93663200-93672200	Weak transcription	Spleen	Spleen
9	chr9:93663200-93673800	Weak transcription	Thymus	Thymus
10	chr9:93663400-93673600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr9:93664600-93667200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr9:93664600-93667200	Weak transcription	Pancreas	Pancrea
13	chr9:93664800-93673200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:93664800-93673400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr9:93664800-93673600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr9:93665000-93673400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:93665000-93673800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr9:93665600-93668000	Enhancers	Esophagus	oesophagus
19	chr9:93666200-93667200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:93666200-93670200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr9:93666400-93668200	Enhancers	Fetal Kidney	kidney
22	chr9:93666600-93673600	Weak transcription	Primary B cells from cord blood	blood
23	chr9:93666800-93667000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr9:93666800-93667200	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links