Variant report

Variant	rs8112969
Chromosome Location	chr19:18513417-18513418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr19:18513308-18513599	HepG2	liver:	n/a	n/a
2	SP1	chr19:18513296-18513662	HepG2	liver:	n/a	n/a
3	HEY1	chr19:18513337-18513738	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18494076..18504244-chr19:18508099..18514509,16	MCF-7	breast:
2	chr19:18387480..18389163-chr19:18512842..18514598,2	K562	blood:
3	chr19:18506537..18511375-chr19:18511397..18514824,5	K562	blood:
4	chr19:18512723..18513473-chr19:18521090..18521675,2	K562	blood:
5	chr19:18387663..18390272-chr19:18513098..18515988,2	K562	blood:

No data

Variant related genes	Relation type
LRRC25	TF binding region
ENSG00000264175	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000175489	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1002640	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421074	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10424080	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11086108	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11671540	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12971295	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13344313	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2888142	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35336015	0.81[ASN][1000 genomes]
rs4808800	0.88[ASN][1000 genomes]
rs9749546	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv2430	chr19:18496428-18514937	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
10	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18508400-18525400	Weak transcription	Right Atrium	heart
2	chr19:18508800-18514400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:18508800-18514800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:18508800-18525200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr19:18509000-18515200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr19:18511600-18514800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr19:18511600-18515200	Enhancers	Primary hematopoietic stem cells	blood
8	chr19:18511600-18515200	Enhancers	Fetal Muscle Leg	muscle
9	chr19:18512000-18515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:18512200-18513600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:18512200-18513600	Enhancers	K562	blood
12	chr19:18512200-18513600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr19:18512200-18514000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr19:18512200-18514000	Enhancers	Primary B cells from peripheral blood	blood
15	chr19:18512200-18514800	Enhancers	Fetal Muscle Trunk	muscle
16	chr19:18512200-18515000	Enhancers	Placenta	Placenta
17	chr19:18512200-18515200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr19:18512400-18515000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr19:18512600-18513600	Weak transcription	Spleen	Spleen
20	chr19:18512600-18514000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:18512800-18513600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr19:18512800-18513600	Flanking Active TSS	A549	lung
23	chr19:18512800-18513600	Enhancers	GM12878-XiMat	blood
24	chr19:18512800-18513600	Enhancers	NHEK	skin
25	chr19:18512800-18514000	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr19:18512800-18514200	Enhancers	Liver	Liver
27	chr19:18513000-18516000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:18513000-18518800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:18513000-18518800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:18513000-18518800	Weak transcription	Colonic Mucosa	Colon
31	chr19:18513000-18525600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr19:18513200-18513600	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr19:18513200-18518600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:18513400-18513600	Enhancers	Adipose Nuclei	Adipose
35	chr19:18513400-18513600	Flanking Active TSS	HepG2	liver
36	chr19:18513400-18513800	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr19:18513400-18514000	Active TSS	Fetal Kidney	kidney
38	chr19:18513400-18515000	Weak transcription	Stomach Mucosa	stomach

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