Variant report

Variant	rs45437199
Chromosome Location	chr19:38795250-38795251
allele	A/G
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:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38794986..38795672-chr3:49449554..49450243,2	Hela-S3	cervix:
2	chr1:245134044..245134798-chr19:38794839..38795559,2	Hela-S3	cervix:
3	chr15:43662884..43663770-chr19:38795192..38796060,2	Hela-S3	cervix:
4	chr19:38753031..38764322-chr19:38787496..38798494,54	MCF-7	breast:
5	chr19:38795165..38795875-chrX:100650150..100651016,2	Hela-S3	cervix:
6	chr19:38718266..38721870-chr19:38794040..38798765,4	MCF-7	breast:
7	chr19:38779327..38783351-chr19:38794485..38798006,3	K562	blood:
8	chr1:149223898..149224411-chr19:38794775..38795700,2	Hela-S3	cervix:
9	chr19:38794775..38795460-chr3:119814356..119814863,2	Hela-S3	cervix:
10	chr19:38794669..38796308-chr19:38799482..38801247,2	K562	blood:
11	chr19:38793982..38798570-chr19:38826004..38829304,4	K562	blood:
12	chr1:26437595..26438414-chr19:38794910..38795675,2	Hela-S3	cervix:
13	chr19:38794216..38796351-chr19:38852337..38854290,3	MCF-7	breast:
14	chr14:64108540..64109428-chr19:38794685..38795598,2	Hela-S3	cervix:
15	chr19:38794641..38795623-chr7:73867369..73868176,2	Hela-S3	cervix:
16	chr19:38793475..38795482-chr19:38826442..38828638,2	K562	blood:
17	chr19:38791989..38796796-chr19:38825093..38829391,7	MCF-7	breast:
18	chr19:38784964..38786694-chr19:38794356..38796889,2	K562	blood:
19	chr19:38744771..38747370-chr19:38793659..38796631,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPINT2-1	chr19:38795206-38795326	NONHSAT066202
2	lnc-SPINT2-1	chr19:38795205-38795326	NONHSAT066201

No data

Variant related genes	Relation type
ENSG00000175087	Chromatin interaction
ENSG00000145022	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000272195	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000267748	Chromatin interaction
ENSG00000140265	Chromatin interaction
ENSG00000167641	Chromatin interaction
ENSG00000140006	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000266963	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000200209	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000006704	Chromatin interaction
ENSG00000067560	Chromatin interaction
ENSG00000137822	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11668355	0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11668651	0.87[ASN][1000 genomes]
rs11669131	0.88[ASN][1000 genomes]
rs11669230	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11671779	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11672219	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11672531	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11672793	0.96[EUR][1000 genomes]
rs11673012	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11673222	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2270093	0.91[EUR][1000 genomes]
rs2270094	0.91[EUR][1000 genomes]
rs2302182	0.88[ASN][1000 genomes]
rs2302183	0.88[ASN][1000 genomes]
rs2304177	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2368484	0.88[ASN][1000 genomes]
rs34989303	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35308902	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3745951	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3745952	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4386247	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4802326	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4802327	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4804016	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4804046	0.95[EUR][1000 genomes]
rs60082376	0.89[ASN][1000 genomes]
rs73041302	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8101488	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8106900	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs931749	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs931750	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	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
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv960928	chr19:38790012-38822380	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38771400-38805800	Weak transcription	Right Atrium	heart
2	chr19:38781200-38795800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr19:38781200-38805800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:38781400-38795400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr19:38781400-38797800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr19:38781600-38795600	Weak transcription	Right Ventricle	heart
7	chr19:38782000-38806000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:38782400-38798000	Weak transcription	Fetal Thymus	thymus
9	chr19:38782600-38796400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:38783000-38795600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:38783400-38797000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:38784000-38797200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr19:38784000-38805800	Weak transcription	Primary B cells from cord blood	blood
14	chr19:38785200-38795400	Weak transcription	Primary T cells from cord blood	blood
15	chr19:38785200-38795400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:38785400-38795400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:38785400-38797000	Weak transcription	Brain Anterior Caudate	brain
18	chr19:38790000-38797800	Weak transcription	Ovary	ovary
19	chr19:38791600-38796600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:38791600-38798000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:38791800-38797000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:38791800-38797600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr19:38791800-38797800	Weak transcription	HSMMtube	muscle
24	chr19:38791800-38797800	Weak transcription	Osteobl	bone
25	chr19:38791800-38798000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:38792000-38796200	Weak transcription	Liver	Liver
27	chr19:38792000-38797600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:38792000-38805400	Weak transcription	NHDF-Ad	bronchial
29	chr19:38792000-38805800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:38792800-38795400	Weak transcription	Dnd41	blood
31	chr19:38793000-38796000	Genic enhancers	K562	blood
32	chr19:38793400-38797600	Weak transcription	Colon Smooth Muscle	Colon
33	chr19:38793800-38796000	Active TSS	A549	lung
34	chr19:38793800-38796000	Active TSS	Hela-S3	cervix
35	chr19:38794000-38796200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr19:38794000-38796600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
37	chr19:38794000-38796600	Transcr. at gene 5' and 3'	NHEK	skin
38	chr19:38794200-38795400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr19:38794200-38795400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:38794200-38795600	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr19:38794200-38795800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr19:38794200-38795800	Strong transcription	Brain Hippocampus Middle	brain
43	chr19:38794200-38795800	Active TSS	Esophagus	oesophagus
44	chr19:38794200-38796200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr19:38794200-38796200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr19:38794400-38795400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr19:38794400-38795600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:38794400-38795600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:38794400-38795600	Flanking Active TSS	Placenta	Placenta
50	chr19:38794400-38795600	Active TSS	Gastric	stomach

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