Variant report

Variant	rs8105314
Chromosome Location	chr19:18466623-18466624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18466402-18467592	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:18466594-18466968	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18391923..18393879-chr19:18465714..18468100,2	K562	blood:
2	chr19:18456961..18458933-chr19:18464472..18467423,2	MCF-7	breast:
3	chr19:18389468..18392190-chr19:18464220..18468229,4	MCF-7	breast:
4	chr19:18457189..18459943-chr19:18465062..18467635,2	K562	blood:
5	chr19:18410193..18412183-chr19:18466425..18468269,2	MCF-7	breast:
6	chr19:18464963..18467276-chr19:18467300..18469773,2	MCF-7	breast:

No data

Variant related genes	Relation type
PGPEP1	TF binding region
ENSG00000130522	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130517	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10409185	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10410065	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10410957	1.00[EUR][1000 genomes]
rs10415054	1.00[EUR][1000 genomes]
rs10418124	1.00[EUR][1000 genomes]
rs10451485	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11574806	1.00[TSI][hapmap]
rs11880673	1.00[EUR][1000 genomes]
rs11881620	1.00[EUR][1000 genomes]
rs28489988	1.00[EUR][1000 genomes]
rs28537851	1.00[EUR][1000 genomes]
rs28706490	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28819668	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58749284	1.00[EUR][1000 genomes]
rs7256004	1.00[EUR][1000 genomes]
rs73523060	1.00[EUR][1000 genomes]
rs73523064	1.00[EUR][1000 genomes]
rs73523067	1.00[EUR][1000 genomes]
rs73523088	1.00[EUR][1000 genomes]
rs73525104	1.00[EUR][1000 genomes]
rs73525115	1.00[EUR][1000 genomes]
rs73527416	1.00[EUR][1000 genomes]
rs73529387	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101797	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8102661	1.00[EUR][1000 genomes]
rs8103073	1.00[EUR][1000 genomes]
rs8103429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107049	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107327	1.00[EUR][1000 genomes]
rs9749302	1.00[EUR][1000 genomes]
rs9917071	1.00[EUR][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	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18452200-18468000	Weak transcription	Aorta	Aorta
2	chr19:18452400-18468000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:18452400-18484800	Weak transcription	Right Atrium	heart
4	chr19:18452600-18466800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:18452600-18467200	Weak transcription	Primary B cells from cord blood	blood
6	chr19:18452600-18467400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr19:18452600-18467800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:18452600-18468000	Weak transcription	HSMM	muscle
9	chr19:18452600-18468200	Weak transcription	NHDF-Ad	bronchial
10	chr19:18452600-18476000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr19:18452600-18484400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:18452800-18470400	Weak transcription	Small Intestine	intestine
13	chr19:18452800-18484600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:18453400-18468000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:18455800-18467800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr19:18455800-18468200	Weak transcription	NH-A	brain
17	chr19:18456000-18467800	Strong transcription	Fetal Stomach	stomach
18	chr19:18457200-18475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:18457400-18467200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:18457400-18467400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:18457400-18467600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:18457400-18467800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr19:18457400-18467800	Strong transcription	Fetal Intestine Small	intestine
24	chr19:18457400-18467800	Weak transcription	HMEC	breast
25	chr19:18457400-18468000	Weak transcription	A549	lung
26	chr19:18457400-18475400	Weak transcription	Stomach Mucosa	stomach
27	chr19:18457400-18475600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:18459400-18468200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:18459400-18473400	Weak transcription	Fetal Brain Male	brain
30	chr19:18461400-18466800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:18463200-18468000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:18463400-18467600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:18463400-18467800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:18463400-18474000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr19:18463800-18473800	Strong transcription	Fetal Intestine Large	intestine
36	chr19:18464000-18466800	Strong transcription	HepG2	liver
37	chr19:18464000-18468000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:18464000-18468200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:18464000-18474600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr19:18464200-18469000	Strong transcription	GM12878-XiMat	blood
41	chr19:18464200-18475600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:18464400-18471200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr19:18465600-18471400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr19:18465800-18467800	Weak transcription	Placenta	Placenta
45	chr19:18465800-18468000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:18466200-18467400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr19:18466200-18467600	Strong transcription	Fetal Muscle Leg	muscle
48	chr19:18466200-18468200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr19:18466200-18473000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:18466200-18473200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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