Variant report

Variant	rs116418496
Chromosome Location	chr9:100785076-100785077
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100784033..100788653-chr9:100792674..100797277,7	K562	blood:
2	chr9:100774780..100779950-chr9:100780337..100785356,9	K562	blood:

Variant related genes	Relation type
ENSG00000212521	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	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv3493282	chr9:100784615-100805700	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3493283	chr9:100784615-100805700	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100756600-100785600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:100757000-100785200	Strong transcription	Placenta	Placenta
3	chr9:100762600-100785400	Strong transcription	Primary T cells from cord blood	blood
4	chr9:100770600-100788400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:100773200-100785600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr9:100776000-100785200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:100776400-100787400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:100778800-100788400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:100780000-100785200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr9:100780000-100788800	Weak transcription	Fetal Kidney	kidney
11	chr9:100781400-100788200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr9:100781800-100785800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:100781800-100786000	Weak transcription	Fetal Brain Female	brain
14	chr9:100781800-100788800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr9:100781800-100791800	Weak transcription	Hela-S3	cervix
16	chr9:100781800-100796800	Weak transcription	Brain Anterior Caudate	brain
17	chr9:100781800-100796800	Weak transcription	Colon Smooth Muscle	Colon
18	chr9:100782000-100787800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:100782000-100796800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr9:100782200-100785400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:100782200-100787400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr9:100782200-100788000	Weak transcription	Colonic Mucosa	Colon
23	chr9:100782200-100788600	Weak transcription	K562	blood
24	chr9:100782200-100792400	Weak transcription	Aorta	Aorta
25	chr9:100782200-100794200	Weak transcription	NHDF-Ad	bronchial
26	chr9:100782200-100796800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr9:100782200-100796800	Weak transcription	HepG2	liver
28	chr9:100782400-100787200	Weak transcription	Primary B cells from cord blood	blood
29	chr9:100782400-100796800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr9:100782400-100797000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:100782800-100785200	Enhancers	Right Ventricle	heart
32	chr9:100782800-100785800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr9:100783000-100791200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:100783200-100785200	Strong transcription	Fetal Intestine Large	intestine
35	chr9:100783200-100786600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr9:100783400-100785400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:100783400-100785400	Enhancers	HUVEC	blood vessel
38	chr9:100783400-100786800	Weak transcription	HMEC	breast
39	chr9:100783600-100788400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:100783600-100789200	Weak transcription	Brain Germinal Matrix	brain
41	chr9:100783600-100789400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr9:100783600-100796800	Weak transcription	Liver	Liver
43	chr9:100783600-100796800	Weak transcription	A549	lung
44	chr9:100783600-100797000	Weak transcription	Brain Substantia Nigra	brain
45	chr9:100783800-100797000	Weak transcription	NHEK	skin
46	chr9:100784000-100785400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr9:100784000-100785800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:100784000-100788800	Weak transcription	Pancreas	Pancrea
49	chr9:100784000-100789000	Weak transcription	Esophagus	oesophagus
50	chr9:100784000-100803800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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