Variant report

Variant	rs12610627
Chromosome Location	chr19:35918675-35918676
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	GATA1	chr19:35918044-35918789	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35918405..35922222-chr19:35923194..35927737,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KRTDAP-1	chr19:35915494-35924004	NONHSAT065841

Variant related genes	Relation type
ENSG00000233214	TF binding region
ENSG00000232680	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12979319	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12981573	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34020756	0.98[EUR][1000 genomes]
rs34759383	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35776741	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35779459	0.84[EUR][1000 genomes]
rs35863509	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
5	nsv833811	chr19:35850257-36029535	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv911627	chr19:35856925-35921266	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35906400-35921600	Weak transcription	Right Atrium	heart
2	chr19:35911800-35920600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr19:35911800-35920800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:35911800-35920800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:35911800-35924800	Weak transcription	Liver	Liver
6	chr19:35912600-35921400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:35912600-35938000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:35912800-35920000	Weak transcription	Fetal Stomach	stomach
9	chr19:35912800-35924600	Weak transcription	Pancreas	Pancrea
10	chr19:35916400-35918800	Enhancers	HepG2	liver
11	chr19:35918200-35920200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr19:35918200-35922200	Enhancers	Fetal Lung	lung
13	chr19:35918400-35920800	Weak transcription	Fetal Intestine Large	intestine
14	chr19:35918600-35918800	Enhancers	Lung	lung
15	chr19:35918600-35919200	Enhancers	K562	blood
16	chr19:35918600-35919600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr19:35918600-35920200	Weak transcription	Gastric	stomach
18	chr19:35918600-35920200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:35918600-35920200	Weak transcription	Stomach Mucosa	stomach
20	chr19:35918600-35920800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:35918600-35921200	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links