Variant report

Variant	rs547179338
Chromosome Location	chr8:100654144-100654145
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100651536..100655023-chr8:100656332..100658879,3	K562	blood:
2	chr8:100652613..100655160-chr8:100773640..100775434,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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	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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv1033795	chr8:100557344-100666640	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv611813	chr8:100635915-100682615	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv1850143	chr8:100650034-100692370	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv1817528	chr8:100653252-100685771	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100622200-100655400	Weak transcription	Primary B cells from cord blood	blood
2	chr8:100631600-100654400	Weak transcription	Left Ventricle	heart
3	chr8:100631600-100658800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:100631600-100683800	Weak transcription	Aorta	Aorta
5	chr8:100632200-100654200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:100637000-100654400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:100637800-100658600	Weak transcription	Psoas Muscle	Psoas
8	chr8:100643400-100676800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:100645800-100674800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:100646000-100657200	Weak transcription	Small Intestine	intestine
11	chr8:100646200-100661800	Weak transcription	Thymus	Thymus
12	chr8:100646600-100686400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:100646800-100674400	Weak transcription	Dnd41	blood
14	chr8:100647000-100667000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:100647000-100667200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:100647000-100667800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:100647200-100667000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:100647400-100667200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:100648400-100675600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:100650000-100654200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:100650000-100654200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:100650000-100654400	Weak transcription	Fetal Kidney	kidney
23	chr8:100650000-100654400	Weak transcription	Spleen	Spleen
24	chr8:100650000-100654600	Weak transcription	HSMMtube	muscle
25	chr8:100650000-100657200	Weak transcription	Adipose Nuclei	Adipose
26	chr8:100650000-100657800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:100650000-100657800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:100650000-100673600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:100650000-100675200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:100650000-100680800	Weak transcription	NHDF-Ad	bronchial
31	chr8:100650000-100681000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:100650200-100654200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:100650200-100661200	Weak transcription	Primary T cells from cord blood	blood
34	chr8:100650800-100657200	Weak transcription	Fetal Intestine Large	intestine
35	chr8:100650800-100657400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:100651000-100654200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:100651000-100655600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:100651000-100657800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:100651200-100656200	Weak transcription	Pancreas	Pancrea
40	chr8:100651400-100669000	Weak transcription	Fetal Intestine Small	intestine
41	chr8:100651800-100683000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:100652000-100654200	Weak transcription	Ovary	ovary
43	chr8:100652600-100654200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:100652600-100654200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr8:100652600-100658400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:100652600-100659000	Weak transcription	Lung	lung
47	chr8:100652800-100654400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:100652800-100654400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:100653200-100656600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:100654000-100654200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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