Variant report

Variant	rs186946816
Chromosome Location	chr9:116253820-116253821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116252798..116255081-chr9:116267283..116269003,2	K562	blood:

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv3341463	chr9:116252081-116254579	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3404137	chr9:116252531-116254179	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116227400-116263800	Weak transcription	Colonic Mucosa	Colon
2	chr9:116240400-116254600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:116242000-116254200	Weak transcription	Brain Germinal Matrix	brain
4	chr9:116242000-116254200	Weak transcription	Fetal Thymus	thymus
5	chr9:116242000-116255200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr9:116242000-116263600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:116242000-116266200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:116242600-116254200	Weak transcription	Fetal Brain Female	brain
9	chr9:116246600-116254400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:116246800-116254800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:116247000-116254600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:116247000-116254800	Weak transcription	Stomach Mucosa	stomach
13	chr9:116247200-116254600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr9:116248200-116259400	Weak transcription	Gastric	stomach
15	chr9:116248600-116261600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:116248800-116261600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:116249000-116254800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr9:116249400-116254600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:116251000-116254600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:116251000-116263800	Weak transcription	Esophagus	oesophagus
21	chr9:116251200-116254200	Weak transcription	HSMM	muscle
22	chr9:116251200-116254400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:116251200-116254400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:116251200-116254600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:116251200-116254600	Weak transcription	Placenta	Placenta
26	chr9:116251200-116254600	Weak transcription	Left Ventricle	heart
27	chr9:116251200-116254600	Weak transcription	Lung	lung
28	chr9:116251200-116254800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:116251200-116263200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:116251400-116254400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr9:116251400-116254400	Weak transcription	Osteobl	bone
32	chr9:116251400-116254600	Weak transcription	Fetal Stomach	stomach
33	chr9:116251400-116254800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr9:116251400-116255000	Weak transcription	Colon Smooth Muscle	Colon
35	chr9:116251400-116255000	Weak transcription	HSMMtube	muscle
36	chr9:116251600-116254400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:116251600-116254600	Weak transcription	NHDF-Ad	bronchial
38	chr9:116251600-116283800	Weak transcription	Hela-S3	cervix
39	chr9:116251800-116254200	Weak transcription	Right Atrium	heart
40	chr9:116251800-116254400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr9:116251800-116254600	Weak transcription	NHLF	lung
42	chr9:116251800-116254800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr9:116251800-116261600	Weak transcription	HepG2	liver
44	chr9:116252000-116254600	Weak transcription	Fetal Intestine Large	intestine
45	chr9:116252000-116260200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr9:116252200-116254600	Weak transcription	Fetal Intestine Small	intestine
47	chr9:116252400-116254600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr9:116252400-116254600	Weak transcription	Psoas Muscle	Psoas
49	chr9:116252400-116254600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr9:116252400-116273200	Weak transcription	Pancreas	Pancrea

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