Variant report

Variant	rs142282004
Chromosome Location	chr19:39812010-39812011
allele	A/G
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	ZBTB7A	chr19:39811727-39812359	K562	blood:	n/a	chr19:39812350-39812358
2	ZBTB7A	chr19:39810552-39812252	ECC-1	luminal epithelium:	n/a	n/a
3	MAZ	chr19:39810645-39812178	IMR90	lung:	n/a	chr19:39810741-39810751 chr19:39810809-39810818
4	ZBTB7A	chr19:39811839-39812323	K562	blood:	n/a	n/a
5	CTCF	chr19:39811980-39812130	GM12871	blood:	n/a	n/a
6	ZBTB7A	chr19:39811323-39812722	ECC-1	luminal epithelium:	n/a	chr19:39812350-39812358
7	SIN3AK20	chr19:39811847-39812182	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39811404..39814084-chr19:39901271..39903376,2	MCF-7	breast:
2	chr19:39341602..39344396-chr19:39810637..39813386,2	K562	blood:
3	chr19:39809900..39813494-chr19:39831059..39834441,3	MCF-7	breast:
4	chr19:39811372..39812878-chr19:39831167..39833886,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268262	TF binding region
ENSG00000090924	Chromatin interaction
ENSG00000179134	Chromatin interaction
ENSG00000130755	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000269246	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
4	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
6	nsv911681	chr19:39797716-39856246	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv3373441	chr19:39810537-39813085	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3429395	chr19:39810562-39812810	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3354847	chr19:39810812-39812410	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv10629	chr19:39811570-39886212	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39809800-39812200	Active TSS	Brain Cingulate Gyrus	brain
2	chr19:39810200-39812200	Active TSS	Fetal Kidney	kidney
3	chr19:39810400-39812200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr19:39810400-39812200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:39810400-39812200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:39810600-39812200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr19:39810600-39812200	Active TSS	Fetal Brain Female	brain
8	chr19:39811000-39812200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr19:39811200-39812200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr19:39811200-39812200	Active TSS	Brain Germinal Matrix	brain
11	chr19:39811200-39812200	Active TSS	Brain Hippocampus Middle	brain
12	chr19:39811200-39812200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr19:39811200-39812200	Enhancers	Fetal Thymus	thymus
14	chr19:39811200-39812200	Active TSS	Stomach Smooth Muscle	stomach
15	chr19:39811200-39812400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr19:39811200-39812400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:39811200-39817600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:39811200-39817800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:39811200-39819600	Weak transcription	GM12878-XiMat	blood
20	chr19:39811400-39812200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr19:39811400-39812200	Enhancers	Primary hematopoietic stem cells	blood
22	chr19:39811400-39812200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr19:39811400-39812200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:39811400-39812400	Enhancers	Primary T cells from cord blood	blood
25	chr19:39811400-39812400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:39811400-39812600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr19:39811400-39816800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:39811400-39817600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:39811400-39825800	Weak transcription	Gastric	stomach
30	chr19:39811600-39812400	Enhancers	Lung	lung
31	chr19:39811600-39812600	Enhancers	Primary B cells from peripheral blood	blood
32	chr19:39811800-39812200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:39811800-39812200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr19:39811800-39812200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
35	chr19:39811800-39812200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:39811800-39812200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:39811800-39812200	Active TSS	Fetal Lung	lung
38	chr19:39811800-39812200	Flanking Active TSS	Dnd41	blood
39	chr19:39811800-39812400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:39812000-39812200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr19:39812000-39812200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:39812000-39812200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:39812000-39812200	Enhancers	Brain Angular Gyrus	brain
44	chr19:39812000-39812200	Enhancers	Brain Anterior Caudate	brain
45	chr19:39812000-39812200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:39812000-39812200	Bivalent/Poised TSS	Psoas Muscle	Psoas
47	chr19:39812000-39812200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
48	chr19:39812000-39812200	Enhancers	Spleen	Spleen
49	chr19:39812000-39812200	Flanking Active TSS	A549	lung
50	chr19:39812000-39812200	Bivalent Enhancer	HepG2	liver

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