Variant report

Variant	rs547176807
Chromosome Location	chr9:72346463-72346464
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72333686..72336207-chr9:72345738..72347762,3	K562	blood:
2	chr9:72342389..72347769-chr9:72348571..72355155,6	K562	blood:
3	chr9:72333686..72336207-chr9:72345738..72347540,2	K562	blood:
4	chr9:72345160..72346831-chr9:72351777..72354334,2	K562	blood:

Variant related genes	Relation type
ENSG00000188647	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471309	chr9:72273898-72410323	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
2	nsv1048622	chr9:72303617-72371795	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr9:72323600-72360800	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr9:72323800-72357600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr9:72324200-72361000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:72324600-72359800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:72325000-72358800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:72327800-72366800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:72330000-72349600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:72330600-72357400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:72331200-72346600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:72333400-72374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:72335200-72350400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:72335800-72346600	Weak transcription	Fetal Intestine Small	intestine
13	chr9:72336000-72352600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr9:72336600-72359400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:72337200-72350200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:72337400-72366400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:72337600-72346600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:72338600-72346600	Weak transcription	Gastric	stomach
19	chr9:72340200-72349800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr9:72340200-72350200	Strong transcription	Fetal Lung	lung
21	chr9:72341600-72349200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr9:72342000-72347400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:72342000-72349000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:72342000-72349000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr9:72342000-72349000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr9:72342000-72349200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:72342000-72349200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr9:72342000-72349600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:72342000-72349600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:72342200-72348800	Strong transcription	Fetal Intestine Large	intestine
31	chr9:72342200-72349200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:72342200-72349400	Strong transcription	Dnd41	blood
33	chr9:72342200-72349600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr9:72342200-72350200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr9:72342200-72350200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:72342200-72350400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr9:72342200-72351200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:72342200-72356600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr9:72342200-72356600	Strong transcription	Fetal Thymus	thymus
40	chr9:72342200-72356800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr9:72342800-72348800	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr9:72342800-72349000	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr9:72342800-72349000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:72342800-72349200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr9:72343000-72349000	Strong transcription	Liver	Liver
46	chr9:72343000-72350200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:72343200-72348200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr9:72343600-72349000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:72344000-72348800	Strong transcription	HepG2	liver
50	chr9:72344200-72347200	Strong transcription	Fetal Brain Female	brain

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