Variant report

Variant	rs140070442
Chromosome Location	chr19:19007621-19007622
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	CTCF	chr19:19007480-19007630	HMEC	breast:	n/a	chr19:19007533-19007540
2	CTCF	chr19:19007500-19007650	BJ	skin:	n/a	chr19:19007533-19007540
3	CTCF	chr19:19007480-19007630	HRPEpiC	eye:	n/a	chr19:19007533-19007540
4	CTCF	chr19:19007480-19007630	HA-sp	spinal cord:	n/a	chr19:19007533-19007540
5	CTCF	chr19:19007520-19007670	AG09319	gingival:	n/a	chr19:19007533-19007540
6	CTCF	chr19:19007520-19007670	HA-sp	spinal cord:	n/a	chr19:19007533-19007540
7	CTCF	chr19:19007480-19007630	NHEK	skin:	n/a	chr19:19007533-19007540
8	CTCF	chr19:19007480-19007630	HAc	cerebellar:	n/a	chr19:19007533-19007540
9	CTCF	chr19:19007540-19007690	HPF	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19005501..19008972-chr19:19028688..19032169,4	K562	blood:
2	chr19:19005129..19007826-chr19:19028734..19032982,4	MCF-7	breast:
3	chr19:19004982..19008022-chr19:19042434..19045091,3	K562	blood:
4	chr19:19005183..19007690-chr19:19050687..19053273,2	MCF-7	breast:
5	chr19:18990686..18992579-chr19:19006938..19009413,2	K562	blood:
6	chr19:19006298..19008038-chr19:19034237..19036261,2	K562	blood:
7	chr19:19006401..19008657-chr19:19231143..19233883,2	K562	blood:

Variant related genes	Relation type
CERS1	TF binding region
GDF1	TF binding region
ENSG00000064545	Chromatin interaction
ENSG00000269019	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000269694	Chromatin interaction
ENSG00000105669	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv911301	chr19:18994638-19077385	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
9	nsv911302	chr19:18995201-19088981	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	esv3340381	chr19:19005752-19008350	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv1823390	chr19:19006569-19017777	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19004800-19007800	Active TSS	Brain Substantia Nigra	brain
2	chr19:19004800-19008400	Active TSS	Brain Cingulate Gyrus	brain
3	chr19:19006000-19008000	Active TSS	Fetal Brain Female	brain
4	chr19:19006200-19008200	Bivalent Enhancer	Spleen	Spleen
5	chr19:19006400-19011000	Weak transcription	Fetal Lung	lung
6	chr19:19006600-19010000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:19006600-19010000	Weak transcription	Gastric	stomach
8	chr19:19006600-19016000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:19006600-19027800	Weak transcription	NHDF-Ad	bronchial
10	chr19:19006600-19029000	Weak transcription	Fetal Kidney	kidney
11	chr19:19006800-19008400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
12	chr19:19006800-19008800	Weak transcription	K562	blood
13	chr19:19006800-19009200	Weak transcription	Hela-S3	cervix
14	chr19:19006800-19009400	Weak transcription	HSMMtube	muscle
15	chr19:19006800-19010000	Weak transcription	Left Ventricle	heart
16	chr19:19006800-19011200	Weak transcription	Primary B cells from cord blood	blood
17	chr19:19006800-19017800	Weak transcription	HUVEC	blood vessel
18	chr19:19007000-19010000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:19007000-19010000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:19007000-19029000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr19:19007200-19007800	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr19:19007200-19007800	Bivalent Enhancer	Fetal Stomach	stomach
23	chr19:19007200-19008000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:19007200-19008000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
25	chr19:19007200-19008200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:19007200-19008400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr19:19007200-19009200	Weak transcription	Psoas Muscle	Psoas
28	chr19:19007400-19007800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:19007400-19007800	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr19:19007400-19007800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr19:19007400-19007800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr19:19007400-19008000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr19:19007400-19008000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:19007400-19008000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr19:19007400-19008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:19007400-19008200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:19007400-19008200	Enhancers	Esophagus	oesophagus
38	chr19:19007400-19008200	Enhancers	Fetal Brain Male	brain
39	chr19:19007400-19008400	Weak transcription	HepG2	liver
40	chr19:19007400-19009200	Weak transcription	Right Ventricle	heart
41	chr19:19007400-19009600	Weak transcription	Liver	Liver
42	chr19:19007400-19025400	Weak transcription	NH-A	brain
43	chr19:19007400-19026000	Weak transcription	A549	lung
44	chr19:19007400-19027800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:19007600-19007800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:19007600-19007800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr19:19007600-19008000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr19:19007600-19008000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:19007600-19008200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:19007600-19008400	Active TSS	Brain Hippocampus Middle	brain

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