Variant report

Variant	rs558526067
Chromosome Location	chr8:100533114-100533115
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	FOXP2	chr8:100532918-100533332	SK-N-MC	brain:	n/a	n/a
2	TAL1	chr8:100533055-100533274	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100532719..100535105-chr8:100539628..100541847,3	MCF-7	breast:

Variant related genes	Relation type
VPS13B	TF binding region
ENSG00000206699	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
10	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
11	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
12	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
13	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
15	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
16	nsv831408	chr8:100523523-100721507	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
17	nsv891228	chr8:100532408-100546178	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100491200-100537000	Weak transcription	Placenta	Placenta
2	chr8:100496400-100537200	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:100499400-100535200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:100503800-100536600	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:100505000-100534800	Weak transcription	Fetal Intestine Large	intestine
6	chr8:100506000-100535400	Weak transcription	Fetal Stomach	stomach
7	chr8:100508400-100535400	Weak transcription	Aorta	Aorta
8	chr8:100508400-100535400	Weak transcription	Right Ventricle	heart
9	chr8:100508400-100535600	Weak transcription	Pancreas	Pancrea
10	chr8:100508400-100538400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:100508400-100574000	Weak transcription	Gastric	stomach
12	chr8:100511200-100538400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:100511600-100535400	Weak transcription	Ovary	ovary
14	chr8:100511600-100559400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:100511800-100539000	Weak transcription	Liver	Liver
16	chr8:100512000-100535400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:100512200-100534200	Weak transcription	NH-A	brain
18	chr8:100512200-100534800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:100512200-100538400	Weak transcription	Fetal Intestine Small	intestine
20	chr8:100512200-100545800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:100512200-100549800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:100512200-100557400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:100512200-100559400	Weak transcription	Small Intestine	intestine
24	chr8:100512400-100535400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:100512400-100545800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:100512600-100533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:100512600-100537400	Weak transcription	Brain Substantia Nigra	brain
28	chr8:100513200-100535400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:100514400-100535400	Weak transcription	Lung	lung
30	chr8:100515800-100533200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:100516200-100533400	Weak transcription	NHDF-Ad	bronchial
32	chr8:100516400-100589000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr8:100516600-100533200	Weak transcription	Adipose Nuclei	Adipose
34	chr8:100516800-100533200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:100517000-100539000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:100517200-100533800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr8:100517200-100535400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:100517600-100542600	Weak transcription	Left Ventricle	heart
39	chr8:100519600-100533200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:100520200-100535400	Weak transcription	Esophagus	oesophagus
41	chr8:100524400-100533200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:100524600-100535200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:100524600-100536800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:100525000-100545600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:100527400-100533200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:100527400-100545600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:100527800-100538600	Weak transcription	Thymus	Thymus
48	chr8:100528200-100537800	Weak transcription	Brain Anterior Caudate	brain
49	chr8:100529800-100535200	Weak transcription	Fetal Lung	lung
50	chr8:100530000-100533200	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links