Variant report

Variant	rs891187
Chromosome Location	chr19:55671374-55671375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr19:55671052-55671455	K562	blood:	n/a	n/a
2	MAX	chr19:55671359-55672503	HCT-116	colon:	n/a	n/a
3	JUN	chr19:55669767-55672364	K562	blood:	n/a	chr19:55672186-55672195
4	MAX	chr19:55671291-55672314	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55669739..55671839-chr19:55895942..55898733,2	K562	blood:
2	chr19:55670339..55672194-chr19:55895106..55898791,3	K562	blood:
3	chr19:55650102..55652468-chr19:55670117..55672433,2	K562	blood:
4	chr19:55656068..55658188-chr19:55669727..55672257,4	K562	blood:
5	chr19:55598098..55602192-chr19:55668353..55672028,4	K562	blood:
6	chr19:55669904..55673815-chr19:55917688..55921815,5	K562	blood:
7	chr19:55668909..55673851-chr19:55684249..55689420,6	K562	blood:
8	chr19:55670803..55672973-chr19:55678461..55680015,2	MCF-7	breast:
9	chr19:55669094..55672573-chr19:55676633..55678240,3	K562	blood:
10	chr19:55590282..55593983-chr19:55668450..55672239,5	K562	blood:
11	chr19:55624850..55627348-chr19:55669347..55671433,3	K562	blood:
12	chr19:55573018..55574580-chr19:55668896..55671784,2	K562	blood:
13	chr19:55669654..55671920-chr19:55893818..55896729,2	MCF-7	breast:
14	chr19:55657720..55659447-chr19:55670409..55672561,2	MCF-7	breast:
15	chr19:55670813..55674787-chr19:55917654..55919984,3	MCF-7	breast:
16	chr19:55656783..55658511-chr19:55670096..55672623,2	MCF-7	breast:

No data

Variant related genes	Relation type
TNNI3	TF binding region
ENSG00000167646	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000160439	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000239137	Chromatin interaction
ENSG00000233493	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10418024	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10422978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11667847	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11671293	0.82[CEU][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs2288527	0.86[JPT][hapmap]
rs2365725	0.91[MEX][hapmap];0.90[TSI][hapmap]
rs28377509	0.89[EUR][1000 genomes]
rs3729836	0.91[EUR][1000 genomes]
rs3729838	0.82[CEU][hapmap];0.91[EUR][1000 genomes]
rs3760871	0.82[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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55668600-55671600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:55668600-55672000	Weak transcription	Pancreas	Pancrea
3	chr19:55668800-55671600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:55669000-55672000	Weak transcription	Spleen	Spleen
5	chr19:55669000-55672800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr19:55669200-55672200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:55669200-55672800	Enhancers	Fetal Heart	heart
8	chr19:55669600-55672400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr19:55669600-55673400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr19:55669800-55671600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr19:55669800-55672000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:55669800-55672400	Enhancers	A549	lung
13	chr19:55670000-55671600	Enhancers	Placenta	Placenta
14	chr19:55670000-55672000	Flanking Active TSS	K562	blood
15	chr19:55670000-55672200	Flanking Active TSS	Hela-S3	cervix
16	chr19:55670000-55672400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:55670200-55671800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:55670200-55671800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:55670200-55672000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr19:55670200-55672000	Enhancers	Primary hematopoietic stem cells	blood
21	chr19:55670400-55671400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:55670400-55671600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:55670400-55671600	Enhancers	NHLF	lung
24	chr19:55670400-55671800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr19:55670400-55671800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr19:55670400-55671800	Enhancers	HSMMtube	muscle
27	chr19:55670400-55672000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:55670400-55672000	Enhancers	HMEC	breast
29	chr19:55670400-55672000	Flanking Active TSS	NHEK	skin
30	chr19:55670400-55672200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr19:55670400-55672400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:55670400-55672400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr19:55670600-55671600	Active TSS	Right Atrium	heart
34	chr19:55670600-55671600	Flanking Active TSS	Right Ventricle	heart
35	chr19:55670600-55671800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:55670600-55671800	Enhancers	HSMM	muscle
37	chr19:55670600-55672200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:55670600-55672200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:55670800-55671400	Bivalent Enhancer	Esophagus	oesophagus
40	chr19:55670800-55672000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr19:55670800-55673800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
42	chr19:55671000-55671600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr19:55671000-55671600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:55671000-55671600	Active TSS	Left Ventricle	heart
45	chr19:55671000-55673000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:55671200-55671600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:55671200-55671600	Weak transcription	Duodenum Mucosa	Duodenum

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