Variant report

Variant	rs4921635
Chromosome Location	chr8:19176292-19176293
allele	A/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	HDAC2	chr8:19176224-19176926	HepG2	liver:	n/a	chr8:19176718-19176732 chr8:19176497-19176511 chr8:19176359-19176373 chr8:19176638-19176652 chr8:19176721-19176735 chr8:19176640-19176654 chr8:19176498-19176512 chr8:19176490-19176504 chr8:19176502-19176516 chr8:19176494-19176508 chr8:19176501-19176515 chr8:19176642-19176656 chr8:19176558-19176567 chr8:19176500-19176514 chr8:19176496-19176510 chr8:19176355-19176369 chr8:19176641-19176655 chr8:19176726-19176740
2	NR2F2	chr8:19176240-19176944	HepG2	liver:	n/a	n/a
3	TEAD4	chr8:19176230-19177171	HepG2	liver:	n/a	n/a
4	MYBL2	chr8:19176226-19177067	HepG2	liver:	n/a	n/a
5	EP300	chr8:19176261-19177042	HepG2	liver:	n/a	chr8:19176354-19176368 chr8:19176641-19176655 chr8:19176558-19176568 chr8:19176357-19176371 chr8:19176499-19176513 chr8:19176722-19176736
6	FOXA1	chr8:19176260-19177008	HepG2	liver:	n/a	chr8:19176296-19176308 chr8:19176553-19176568
7	FOXA2	chr8:19176129-19177080	HepG2	liver:	n/a	chr8:19176296-19176308
8	FOXA1	chr8:19176185-19177019	HepG2	liver:	n/a	chr8:19176296-19176308 chr8:19176553-19176568
9	SP1	chr8:19176260-19176981	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:19176267-19176856	HepG2	liver:	n/a	n/a
11	NR2F2	chr8:19176275-19176943	HepG2	liver:	n/a	n/a
12	NFIC	chr8:19176212-19176924	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:12789775..12791275-chr8:19175114..19177596,2	MCF-7	breast:
2	chr8:19169455..19173162-chr8:19175391..19178341,5	MCF-7	breast:

Variant related genes	Relation type
SH2D4A	TF binding region
ENSG00000104611	Chromatin interaction
ENSG00000095059	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2683324	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4922018	0.92[ASN][1000 genomes]
rs6997245	0.91[ASN][1000 genomes]
rs6997589	0.90[ASN][1000 genomes]
rs7005125	0.91[ASN][1000 genomes]
rs7005298	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7006741	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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
16	nsv890621	chr8:19173379-19211220	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19172000-19179600	Weak transcription	Spleen	Spleen
2	chr8:19172200-19179800	Weak transcription	Left Ventricle	heart
3	chr8:19172200-19182600	Weak transcription	Esophagus	oesophagus
4	chr8:19172400-19176800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:19172400-19176800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:19172400-19177000	Weak transcription	Adipose Nuclei	Adipose
7	chr8:19172400-19180600	Weak transcription	Fetal Stomach	stomach
8	chr8:19172400-19184800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:19172400-19187800	Weak transcription	Fetal Heart	heart
10	chr8:19172400-19188000	Weak transcription	Right Ventricle	heart
11	chr8:19172400-19202400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:19172600-19181200	Weak transcription	NH-A	brain
13	chr8:19172600-19202800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:19172800-19176800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:19172800-19176800	Weak transcription	Fetal Intestine Large	intestine
16	chr8:19172800-19181600	Weak transcription	Placenta	Placenta
17	chr8:19173000-19176800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:19173600-19178800	Weak transcription	NHLF	lung
19	chr8:19173600-19180600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:19173600-19254800	Weak transcription	Colonic Mucosa	Colon
21	chr8:19173800-19185200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:19173800-19205400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:19174000-19178200	Weak transcription	NHEK	skin
24	chr8:19174000-19223600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:19174200-19176800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:19174200-19177000	Genic enhancers	A549	lung
27	chr8:19174200-19177200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:19174200-19177800	Weak transcription	Fetal Intestine Small	intestine
29	chr8:19174200-19178200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:19174200-19179200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:19174200-19179600	Weak transcription	Lung	lung
32	chr8:19174200-19183400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:19174200-19183400	Weak transcription	HMEC	breast
34	chr8:19174200-19184000	Weak transcription	Aorta	Aorta
35	chr8:19174200-19191400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:19174200-19220400	Weak transcription	HSMM	muscle
37	chr8:19174400-19178200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:19174400-19183400	Weak transcription	Small Intestine	intestine
39	chr8:19174400-19205200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:19174800-19176800	Weak transcription	Hela-S3	cervix
41	chr8:19175200-19179600	Weak transcription	Gastric	stomach
42	chr8:19175600-19176800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:19175600-19176800	Genic enhancers	Osteobl	bone
44	chr8:19175600-19179800	Enhancers	Ovary	ovary
45	chr8:19175800-19176600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:19175800-19176800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:19175800-19176800	Weak transcription	Pancreas	Pancrea
48	chr8:19176000-19176400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:19176000-19176400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:19176000-19176400	Flanking Active TSS	Liver	Liver

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