Variant report

Variant	rs8101482
Chromosome Location	chr19:38734828-38734829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38733321..38734847-chr19:38824832..38827411,2	MCF-7	breast:
2	chr19:38734193..38735131-chr19:38825868..38826446,2	MCF-7	breast:
3	chr19:38734151..38735191-chr19:38825824..38826459,3	K562	blood:
4	chr19:38733182..38735640-chr19:38825420..38827758,3	K562	blood:
5	chr19:38733984..38735573-chr19:38825634..38828607,2	K562	blood:
6	chr19:38734707..38741200-chr19:38793157..38796642,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167644	Chromatin interaction
ENSG00000099338	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10993	0.88[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.91[ASN][1000 genomes]
rs11880301	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs11880326	0.91[ASN][1000 genomes]
rs11880459	0.91[ASN][1000 genomes]
rs35710536	1.00[GIH][hapmap]
rs59648079	0.91[ASN][1000 genomes]
rs60163114	0.91[ASN][1000 genomes]
rs6508780	0.84[ASN][1000 genomes]
rs7249532	0.91[ASN][1000 genomes]
rs7260295	0.91[ASN][1000 genomes]
rs73030303	0.91[ASN][1000 genomes]
rs73030307	0.91[ASN][1000 genomes]
rs73030308	0.91[ASN][1000 genomes]
rs73030309	0.91[ASN][1000 genomes]
rs8111378	0.91[ASN][1000 genomes]
rs8112201	0.91[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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8101482	SPINT2	cis	lymphoblastoid	seeQTL
rs8101482	PPP1R14A	cis	lymphoblastoid	seeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38720600-38740400	Weak transcription	Right Atrium	heart
2	chr19:38734000-38735000	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:38734000-38735000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:38734000-38735000	Enhancers	Liver	Liver
5	chr19:38734000-38735000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:38734000-38735000	Enhancers	Fetal Thymus	thymus
7	chr19:38734000-38735400	Active TSS	Hela-S3	cervix
8	chr19:38734200-38735000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr19:38734400-38735000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr19:38734400-38735000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr19:38734400-38735000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr19:38734400-38735000	Enhancers	Primary hematopoietic stem cells	blood
13	chr19:38734400-38735000	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr19:38734400-38735000	Flanking Active TSS	A549	lung
15	chr19:38734400-38735000	Enhancers	Dnd41	blood
16	chr19:38734400-38735000	Enhancers	NH-A	brain
17	chr19:38734400-38735800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:38734400-38735800	Enhancers	Fetal Muscle Leg	muscle
19	chr19:38734400-38735800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr19:38734600-38735000	Enhancers	Primary B cells from cord blood	blood
21	chr19:38734600-38735000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:38734600-38735000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr19:38734600-38735000	Enhancers	Lung	lung
24	chr19:38734600-38735000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr19:38734600-38735200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:38734600-38735400	Weak transcription	Aorta	Aorta
27	chr19:38734600-38735600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr19:38734600-38735800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:38734600-38736400	Enhancers	Fetal Intestine Small	intestine
30	chr19:38734600-38736400	Weak transcription	HSMM	muscle
31	chr19:38734600-38736800	Weak transcription	GM12878-XiMat	blood
32	chr19:38734600-38737000	Enhancers	Placenta	Placenta
33	chr19:38734800-38735000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:38734800-38735000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
35	chr19:38734800-38735000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:38734800-38735000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:38734800-38735000	Enhancers	Brain Angular Gyrus	brain
38	chr19:38734800-38735000	Enhancers	Brain Anterior Caudate	brain
39	chr19:38734800-38735000	Active TSS	Brain Cingulate Gyrus	brain
40	chr19:38734800-38735000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr19:38734800-38735000	Enhancers	Fetal Lung	lung
42	chr19:38734800-38735000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr19:38734800-38735000	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr19:38734800-38735000	Enhancers	HepG2	liver
45	chr19:38734800-38735200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr19:38734800-38735200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:38734800-38735200	Enhancers	Ovary	ovary
48	chr19:38734800-38735600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:38734800-38735600	Weak transcription	Adipose Nuclei	Adipose
50	chr19:38734800-38735600	Weak transcription	Stomach Mucosa	stomach

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