Variant report

Variant	rs8109852
Chromosome Location	chr19:52198130-52198131
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:52198127-52198352	K562	blood:	n/a	n/a
2	POLR2A	chr19:52197878-52199557	PFSK-1	brain:	n/a	n/a
3	RCOR1	chr19:52197999-52198290	K562	blood:	n/a	n/a
4	POLR2A	chr19:52198116-52198367	HepG2	liver:	n/a	n/a
5	TCF7L2	chr19:52198025-52198193	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:52198044-52198246	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr19:52197587-52198193	MCF-7	breast:	n/a	n/a
8	POLR2A	chr19:52196716-52199082	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52196159..52199511-chr19:52202868..52206043,4	K562	blood:

Variant related genes	Relation type
SPACA6P-AS	TF binding region
ENSG00000182310	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11881781	0.83[EUR][1000 genomes]
rs4802840	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4802841	0.93[CEU][hapmap]
rs73054871	0.83[EUR][1000 genomes]
rs8106727	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8111742	0.85[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
2	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
3	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription 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 miRNA target site	533 gene(s)	inside rSNPs	diseases
4	nsv1064914	chr19:52103914-52231564	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	529 gene(s)	inside rSNPs	diseases
5	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	531 gene(s)	inside rSNPs	diseases
6	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
7	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
8	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
9	esv1843680	chr19:52131510-52211749	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
10	nsv1066046	chr19:52147399-52271247	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
11	nsv544054	chr19:52147399-52271247	Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
12	nsv912296	chr19:52182363-52231032	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	518 gene(s)	inside rSNPs	diseases
13	nsv915725	chr19:52184488-52439676	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
14	nsv9742	chr19:52187538-52221742	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	517 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8109852	ZNF587	cis	cerebellum	SCAN
rs8109852	CNOT3	cis	cerebellum	SCAN
rs8109852	ZNF264	cis	parietal	SCAN
rs8109852	ZNF304	cis	parietal	SCAN
rs8109852	SLC27A5	cis	parietal	SCAN
rs8109852	ZNF784	cis	parietal	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52194200-52205400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:52194600-52205800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:52194600-52207000	Weak transcription	Psoas Muscle	Psoas
4	chr19:52194800-52198600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:52194800-52204600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:52194800-52205200	Weak transcription	Stomach Mucosa	stomach
7	chr19:52195000-52205600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:52195000-52205600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr19:52195000-52205800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr19:52195000-52205800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:52195200-52199000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:52195200-52205800	Weak transcription	Primary T cells from cord blood	blood
13	chr19:52195400-52201400	Weak transcription	Liver	Liver
14	chr19:52195400-52204600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:52195400-52207200	Weak transcription	Hela-S3	cervix
16	chr19:52195600-52198600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:52195600-52203200	Strong transcription	Fetal Intestine Small	intestine
18	chr19:52195600-52204600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:52195600-52204800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr19:52195800-52198200	Genic enhancers	Placenta	Placenta
21	chr19:52195800-52198800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:52195800-52204600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:52196000-52198600	Genic enhancers	A549	lung
24	chr19:52196000-52198800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:52196200-52198200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr19:52196200-52204800	Weak transcription	Colonic Mucosa	Colon
27	chr19:52196200-52204800	Strong transcription	NHEK	skin
28	chr19:52196200-52205600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:52196200-52205600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:52196400-52198600	Strong transcription	NH-A	brain
31	chr19:52196400-52199600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:52196400-52199600	Strong transcription	Gastric	stomach
33	chr19:52196400-52200000	Weak transcription	Brain Substantia Nigra	brain
34	chr19:52196400-52201600	Strong transcription	Osteobl	bone
35	chr19:52196400-52202800	Strong transcription	Fetal Intestine Large	intestine
36	chr19:52196400-52203000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:52196400-52203000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:52196400-52203200	Strong transcription	NHLF	lung
39	chr19:52196400-52204600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr19:52196400-52204600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:52196400-52205200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:52196400-52206400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:52196400-52206600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr19:52196600-52198200	Strong transcription	Esophagus	oesophagus
45	chr19:52196600-52198400	Strong transcription	Fetal Brain Female	brain
46	chr19:52196600-52199000	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr19:52196600-52199200	Strong transcription	Aorta	Aorta
48	chr19:52196600-52199400	Strong transcription	HUVEC	blood vessel
49	chr19:52196600-52202600	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr19:52196600-52203000	Strong transcription	NHDF-Ad	bronchial

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