Variant report

Variant	rs3729708
Chromosome Location	chr19:55668848-55668849
allele	C/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	SPI1	chr19:55668633-55668952	K562	blood:	n/a	chr19:55668820-55668827 chr19:55668776-55668789 chr19:55668818-55668831
2	POLR2A	chr19:55667406-55669499	K562	blood:	n/a	n/a
3	HDAC2	chr19:55668800-55669136	K562	blood:	n/a	n/a
4	ZBTB7A	chr19:55668048-55669871	K562	blood:	n/a	n/a
5	THAP1	chr19:55668699-55668927	K562	blood:	n/a	n/a
6	SPI1	chr19:55668687-55668924	K562	blood:	n/a	chr19:55668820-55668827 chr19:55668776-55668789 chr19:55668818-55668831
7	ZBTB7A	chr19:55667485-55670788	K562	blood:	n/a	n/a
8	ELF1	chr19:55668615-55668945	K562	blood:	n/a	chr19:55668817-55668830

No.	Distal block	Cell Line	Cell type
1	chr19:55667256..55669360-chr19:55970897..55972567,2	K562	blood:
2	chr19:55598098..55602192-chr19:55668353..55672028,4	K562	blood:
3	chr19:55666494..55670422-chr19:55672733..55675574,3	K562	blood:
4	chr19:55606186..55608004-chr19:55668541..55670350,2	K562	blood:
5	chr19:55658387..55665037-chr19:55666866..55670836,8	K562	blood:
6	chr19:55666595..55669878-chr19:55917801..55921094,4	K562	blood:
7	chr19:55590282..55593983-chr19:55668450..55672239,5	K562	blood:
8	chr19:55655324..55657835-chr19:55666870..55669444,2	K562	blood:
9	chr19:55627370..55629030-chr19:55666382..55669249,2	MCF-7	breast:

Variant related genes	Relation type
TNNI3	TF binding region
ENSG00000267577	TF binding region
ENSG00000131037	Chromatin interaction
ENSG00000167646	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000125503	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3729709	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534462	chr19:55028722-55683018	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv912451	chr19:55595687-55680746	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55666400-55669400	Active TSS	Left Ventricle	heart
2	chr19:55667200-55669200	Active TSS	Right Atrium	heart
3	chr19:55667400-55669000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:55667400-55669000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr19:55667400-55669000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
6	chr19:55667400-55669000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
7	chr19:55667400-55669000	ZNF genes & repeats	Spleen	Spleen
8	chr19:55667400-55669200	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr19:55667400-55669400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr19:55667400-55670000	Bivalent Enhancer	Placenta	Placenta
11	chr19:55667600-55669000	Active TSS	Fetal Heart	heart
12	chr19:55667800-55669200	Bivalent Enhancer	Fetal Intestine Small	intestine
13	chr19:55667800-55669200	Active TSS	Right Ventricle	heart
14	chr19:55668000-55669200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr19:55668000-55669400	Flanking Active TSS	K562	blood
16	chr19:55668200-55669000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
17	chr19:55668200-55669200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:55668200-55669400	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr19:55668200-55669600	Weak transcription	Hela-S3	cervix
20	chr19:55668200-55670000	Weak transcription	Psoas Muscle	Psoas
21	chr19:55668400-55669000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:55668400-55669800	Weak transcription	A549	lung
23	chr19:55668600-55669000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr19:55668600-55669000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:55668600-55669400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:55668600-55670600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:55668600-55671600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:55668600-55672000	Weak transcription	Pancreas	Pancrea
29	chr19:55668800-55669000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr19:55668800-55669000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr19:55668800-55669000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr19:55668800-55669200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:55668800-55669400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:55668800-55670800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:55668800-55671600	Weak transcription	H9 Cell Line	embryonic stem cell

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