Variant report

Variant	rs2139767
Chromosome Location	chr8:19172860-19172861
allele	A/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	CTCF	chr8:19170014-19172887	A549	lung:	n/a	chr8:19172051-19172064 chr8:19170321-19170329 chr8:19171897-19171910 chr8:19172020-19172033
2	POLR2A	chr8:19172794-19172971	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:19155044..19157820-chr8:19172820..19174971,2	MCF-7	breast:
2	chr8:19142668..19144947-chr8:19171540..19174164,2	MCF-7	breast:
3	chr8:19169455..19173162-chr8:19175391..19178341,5	MCF-7	breast:

Variant related genes	Relation type
SH2D4A	TF binding region
ENSG00000104611	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2683324	0.90[ASN][1000 genomes]
rs4922018	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6997245	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6997589	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7005125	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026466	chr8:18433493-19271274	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539520	chr8:18433493-19271274	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv917232	chr8:18585309-19208665	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv890610	chr8:18749120-19260599	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv890614	chr8:18838764-19274793	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv890615	chr8:18989735-19181921	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv890616	chr8:18989735-19197809	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv1033229	chr8:19081684-19271274	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19171000-19173400	Active TSS	Duodenum Mucosa	Duodenum
2	chr8:19171200-19173000	Active TSS	NHLF	lung
3	chr8:19171200-19173200	Active TSS	Osteobl	bone
4	chr8:19172000-19179600	Weak transcription	Spleen	Spleen
5	chr8:19172200-19173000	Bivalent Enhancer	Fetal Thymus	thymus
6	chr8:19172200-19173400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:19172200-19173400	Weak transcription	Gastric	stomach
8	chr8:19172200-19173400	Weak transcription	Lung	lung
9	chr8:19172200-19173600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:19172200-19174000	Weak transcription	Aorta	Aorta
11	chr8:19172200-19179800	Weak transcription	Left Ventricle	heart
12	chr8:19172200-19182600	Weak transcription	Esophagus	oesophagus
13	chr8:19172400-19173000	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:19172400-19173000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:19172400-19173000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr8:19172400-19173200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr8:19172400-19173200	Flanking Active TSS	Hela-S3	cervix
18	chr8:19172400-19173400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:19172400-19173400	Weak transcription	Right Atrium	heart
20	chr8:19172400-19173600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:19172400-19173600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr8:19172400-19173600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:19172400-19173800	Enhancers	Fetal Intestine Small	intestine
24	chr8:19172400-19173800	Weak transcription	HSMMtube	muscle
25	chr8:19172400-19173800	Weak transcription	HUVEC	blood vessel
26	chr8:19172400-19174000	Enhancers	NHEK	skin
27	chr8:19172400-19174200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:19172400-19174200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:19172400-19174200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:19172400-19174200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:19172400-19174200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:19172400-19174400	Enhancers	Ovary	ovary
33	chr8:19172400-19175800	Enhancers	Pancreas	Pancrea
34	chr8:19172400-19176000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:19172400-19176200	Weak transcription	Fetal Lung	lung
36	chr8:19172400-19176200	Enhancers	Stomach Mucosa	stomach
37	chr8:19172400-19176800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:19172400-19176800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:19172400-19177000	Weak transcription	Adipose Nuclei	Adipose
40	chr8:19172400-19180600	Weak transcription	Fetal Stomach	stomach
41	chr8:19172400-19184800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:19172400-19187800	Weak transcription	Fetal Heart	heart
43	chr8:19172400-19188000	Weak transcription	Right Ventricle	heart
44	chr8:19172400-19202400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:19172600-19173000	Bivalent Enhancer	Primary B cells from cord blood	blood
46	chr8:19172600-19173200	Enhancers	Liver	Liver
47	chr8:19172600-19173200	Flanking Active TSS	A549	lung
48	chr8:19172600-19173400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr8:19172600-19174200	Enhancers	HMEC	breast
50	chr8:19172600-19181200	Weak transcription	NH-A	brain

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