Variant report

Variant	rs4808814
Chromosome Location	chr19:18637610-18637611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18631959..18635180-chr19:18637583..18640796,4	MCF-7	breast:
2	chr19:18632000..18633811-chr19:18635928..18638665,2	K562	blood:
3	chr19:18631751..18633500-chr19:18635842..18638620,3	K562	blood:
4	chr19:18635466..18638348-chr19:18653653..18655697,2	K562	blood:
5	chr19:18636044..18639064-chr19:18654065..18656476,3	MCF-7	breast:
6	chr19:18637025..18639929-chr19:18647584..18650273,2	K562	blood:

Variant related genes	Relation type
ENSG00000105656	Chromatin interaction
ENSG00000105701	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10401741	0.82[JPT][hapmap];0.82[YRI][hapmap]
rs10415320	0.82[JPT][hapmap]
rs10422974	0.82[JPT][hapmap]
rs2303692	0.80[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv1055794	chr19:18611545-18676933	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
11	nsv911283	chr19:18626732-18689830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4808814	LOC646044///SSBP4	Cis_1M	lymphoblastoid	RTeQTL
rs4808814	ZNF14	cis	parietal	SCAN
rs4808814	ZNF93	cis	cerebellum	SCAN
rs4808814	LAPTM5	trans	parietal	SCAN
rs4808814	ABHD8	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18632800-18641000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:18632800-18642200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:18632800-18642200	Weak transcription	Aorta	Aorta
4	chr19:18632800-18652200	Weak transcription	Fetal Heart	heart
5	chr19:18632800-18652800	Weak transcription	Stomach Mucosa	stomach
6	chr19:18632800-18654600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:18633000-18638600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr19:18633000-18640400	Weak transcription	Right Ventricle	heart
9	chr19:18633000-18640400	Weak transcription	Spleen	Spleen
10	chr19:18633000-18642000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:18633000-18642000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr19:18633000-18642000	Weak transcription	Lung	lung
13	chr19:18633000-18642200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:18633000-18642200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:18633000-18642200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr19:18633000-18642200	Weak transcription	Liver	Liver
17	chr19:18633000-18642200	Weak transcription	Colonic Mucosa	Colon
18	chr19:18633000-18642200	Weak transcription	Esophagus	oesophagus
19	chr19:18633000-18642200	Weak transcription	Gastric	stomach
20	chr19:18633000-18642200	Weak transcription	Left Ventricle	heart
21	chr19:18633000-18642200	Weak transcription	Pancreas	Pancrea
22	chr19:18633000-18642200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:18633000-18642200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:18633000-18642800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr19:18633000-18653400	Weak transcription	Psoas Muscle	Psoas
26	chr19:18633200-18640400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:18633200-18653200	Weak transcription	Right Atrium	heart
28	chr19:18633600-18640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:18633600-18640600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:18633600-18642200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:18633600-18642200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr19:18633600-18642200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:18633600-18642200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:18633600-18642200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr19:18633600-18642200	Weak transcription	HSMMtube	muscle
36	chr19:18633600-18642200	Weak transcription	NHLF	lung
37	chr19:18633600-18645200	Weak transcription	HSMM	muscle
38	chr19:18633600-18646600	Weak transcription	Small Intestine	intestine
39	chr19:18633800-18640200	Weak transcription	Fetal Stomach	stomach
40	chr19:18633800-18640400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:18633800-18640400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:18633800-18640400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:18633800-18640400	Weak transcription	Brain Angular Gyrus	brain
44	chr19:18633800-18640400	Weak transcription	Fetal Intestine Small	intestine
45	chr19:18633800-18640400	Weak transcription	NHDF-Ad	bronchial
46	chr19:18633800-18640600	Weak transcription	Brain Germinal Matrix	brain
47	chr19:18633800-18640600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr19:18633800-18641800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr19:18633800-18641800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr19:18633800-18642000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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