Variant report

Variant	rs7836566
Chromosome Location	chr8:19676771-19676772
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	IRF1	chr8:19675401-19677333	K562	blood:	n/a	chr8:19676146-19676159 chr8:19676149-19676160 chr8:19676148-19676159 chr8:19676147-19676159 chr8:19676144-19676158 chr8:19676148-19676162 chr8:19676146-19676160 chr8:19676148-19676158
2	POLR2A	chr8:19676649-19676910	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr8:19673981-19676882	IMR90	lung:	n/a	n/a
4	KAP1	chr8:19675857-19677065	K562	blood:	n/a	n/a
5	POLR2A	chr8:19674362-19680077	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:19675302..19676840-chr8:19775032..19777867,2	K562	blood:
2	chr8:19675514..19677492-chr8:19691174..19693357,2	MCF-7	breast:
3	chr8:19674757..19677268-chr8:19687110..19688906,2	K562	blood:
4	chr8:19169628..19172105-chr8:19676058..19678927,2	MCF-7	breast:
5	chr8:19674069..19678740-chr8:19703160..19710631,7	K562	blood:
6	chr8:19665994..19668297-chr8:19676557..19678273,2	K562	blood:

Variant related genes	Relation type
INTS10	TF binding region
ENSG00000104613	Chromatin interaction
ENSG00000104611	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11994107	1.00[ASN][1000 genomes]
rs262	1.00[AMR][1000 genomes]
rs28413169	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56952689	1.00[AMR][1000 genomes]
rs57952597	1.00[ASN][1000 genomes]
rs61274012	1.00[AMR][1000 genomes]
rs7005354	1.00[AMR][1000 genomes]
rs73590876	1.00[ASN][1000 genomes]
rs73599687	1.00[AMR][1000 genomes]
rs73601683	1.00[AMR][1000 genomes]
rs7825694	1.00[AMR][1000 genomes]
rs7836290	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844257	1.00[AMR][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	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19673800-19676800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:19675600-19676800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr8:19676000-19676800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:19676000-19676800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr8:19676000-19677000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:19676000-19677000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:19676000-19677000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:19676000-19677000	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:19676000-19677200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:19676000-19677200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:19676000-19677200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:19676000-19677400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:19676000-19677600	Weak transcription	Left Ventricle	heart
14	chr8:19676000-19677600	Weak transcription	Lung	lung
15	chr8:19676000-19677600	Weak transcription	Ovary	ovary
16	chr8:19676000-19677600	Weak transcription	Psoas Muscle	Psoas
17	chr8:19676000-19677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:19676000-19677800	Weak transcription	Colonic Mucosa	Colon
19	chr8:19676000-19678000	Weak transcription	Spleen	Spleen
20	chr8:19676000-19678400	Weak transcription	Thymus	Thymus
21	chr8:19676000-19678600	Weak transcription	Esophagus	oesophagus
22	chr8:19676000-19678800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:19676000-19678800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:19676000-19678800	Weak transcription	Aorta	Aorta
25	chr8:19676000-19678800	Weak transcription	Gastric	stomach
26	chr8:19676000-19678800	Weak transcription	Pancreas	Pancrea
27	chr8:19676000-19681000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:19676000-19683800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:19676000-19689600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:19676000-19699000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:19676000-19710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:19676200-19676800	Enhancers	Brain Angular Gyrus	brain
33	chr8:19676200-19676800	Enhancers	Duodenum Mucosa	Duodenum
34	chr8:19676200-19676800	Enhancers	Fetal Intestine Large	intestine
35	chr8:19676200-19676800	Transcr. at gene 5' and 3'	A549	lung
36	chr8:19676200-19676800	Transcr. at gene 5' and 3'	HMEC	breast
37	chr8:19676200-19676800	Transcr. at gene 5' and 3'	K562	blood
38	chr8:19676200-19677000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:19676200-19677000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:19676200-19677000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:19676200-19677000	Flanking Active TSS	GM12878-XiMat	blood
42	chr8:19676200-19677200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:19676200-19677200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:19676200-19677200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:19676200-19677200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:19676200-19677200	Weak transcription	Fetal Thymus	thymus
47	chr8:19676200-19677400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr8:19676200-19677600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:19676200-19677600	Weak transcription	Stomach Mucosa	stomach
50	chr8:19676200-19677600	Weak transcription	HSMMtube	muscle

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