Variant report

Variant	rs1710378
Chromosome Location	chr19:51639980-51639981
allele	C/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	chr19:51639933-51640620	U87	brain:	n/a	n/a
2	POLR2A	chr19:51639889-51640734	K562	blood:	n/a	n/a
3	HEY1	chr19:51639968-51640610	K562	blood:	n/a	n/a
4	PML	chr19:51639891-51640595	K562	blood:	n/a	chr19:51640151-51640159
5	POLR2A	chr19:51639944-51640605	K562	blood:	n/a	n/a
6	PML	chr19:51639929-51640676	K562	blood:	n/a	chr19:51640151-51640159
7	BCLAF1	chr19:51639932-51640557	K562	blood:	n/a	n/a
8	HEY1	chr19:51639744-51640638	K562	blood:	n/a	n/a
9	POLR2A	chr19:51639938-51640637	K562	blood:	n/a	n/a
10	POLR2A	chr19:51639952-51640597	K562	blood:	n/a	n/a
11	POLR2A	chr19:51639898-51640574	K562	blood:	n/a	n/a
12	POLR2A	chr19:51639939-51640587	U87	brain:	n/a	n/a
13	POLR2A	chr19:51639900-51640627	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51609324..51611853-chr19:51639280..51641755,3	K562	blood:
2	chr19:51637873..51640253-chr19:51788786..51791589,2	K562	blood:

Variant related genes	Relation type
ENSG00000267990	TF binding region
ENSG00000142544	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62114140	1.00[ASN][1000 genomes]
rs7253072	1.00[ASN][1000 genomes]
rs7253169	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34104	chr19:51566170-51641675	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51626800-51640400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:51634000-51645000	Weak transcription	Right Atrium	heart
3	chr19:51635600-51640000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr19:51635800-51640200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:51635800-51640800	Weak transcription	Colonic Mucosa	Colon
6	chr19:51635800-51640800	Weak transcription	Ovary	ovary
7	chr19:51636000-51640200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr19:51636000-51640200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:51636000-51640400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:51636000-51644600	Weak transcription	Fetal Thymus	thymus
11	chr19:51636200-51640800	Weak transcription	Adipose Nuclei	Adipose
12	chr19:51636800-51640200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr19:51637800-51640800	Weak transcription	Spleen	Spleen
14	chr19:51637800-51648600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr19:51638600-51640600	Enhancers	Primary B cells from cord blood	blood
16	chr19:51639000-51645400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:51639200-51641600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr19:51639200-51644800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr19:51639400-51640200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:51639400-51640400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr19:51639400-51641600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr19:51639400-51644000	Enhancers	Primary hematopoietic stem cells	blood
23	chr19:51639600-51641200	Weak transcription	Pancreas	Pancrea
24	chr19:51639600-51641400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr19:51639600-51641600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr19:51639600-51641600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr19:51639600-51641600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr19:51639600-51641600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:51639600-51641800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr19:51639800-51640000	Enhancers	Primary T cells from cord blood	blood
31	chr19:51639800-51640000	Enhancers	Placenta	Placenta
32	chr19:51639800-51640600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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