Variant report

Variant	rs2792818
Chromosome Location	chr9:116159099-116159100
allele	A/G
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	POLR2A	chr9:116158874-116160883	PBDE	blood:	n/a	n/a
2	GATA1	chr9:116159099-116161726	PBDE	blood:	n/a	chr9:116159753-116159762

No.	Distal block	Cell Line	Cell type
1	chr9:116151263..116154918-chr9:116155923..116160670,6	K562	blood:
2	chr9:116156868..116159133-chr9:116160303..116163490,3	K562	blood:
3	chr9:116156284..116160950-chr9:116161266..116165857,7	MCF-7	breast:

Variant related genes	Relation type
ALAD	TF binding region
ENSG00000148218	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2761025	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3810925	1.00[CHD][hapmap]
rs3827674	1.00[CHD][hapmap]

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	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	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2792818	AMBP	cis	cerebellar cortex	BrainEAC
rs2792818	ATP6V1G1	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116127800-116160400	Weak transcription	Fetal Heart	heart
2	chr9:116139800-116159600	Weak transcription	NH-A	brain
3	chr9:116139800-116160400	Weak transcription	NHDF-Ad	bronchial
4	chr9:116139800-116161400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr9:116139800-116161400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:116139800-116162000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr9:116140000-116160200	Weak transcription	HMEC	breast
8	chr9:116140000-116162000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr9:116143400-116160200	Weak transcription	Small Intestine	intestine
10	chr9:116144600-116162600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:116146600-116162800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr9:116147800-116159800	Strong transcription	Fetal Stomach	stomach
13	chr9:116148000-116159400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr9:116148600-116159200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:116149200-116159600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr9:116149800-116160600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:116150200-116161200	Weak transcription	Fetal Brain Male	brain
18	chr9:116151600-116160400	Weak transcription	Hela-S3	cervix
19	chr9:116151600-116162400	Weak transcription	Psoas Muscle	Psoas
20	chr9:116151800-116162600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr9:116152000-116162200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr9:116153000-116159600	Weak transcription	Osteobl	bone
23	chr9:116153000-116161600	Weak transcription	GM12878-XiMat	blood
24	chr9:116153400-116162400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr9:116153400-116162400	Weak transcription	A549	lung
26	chr9:116153600-116162600	Weak transcription	Fetal Kidney	kidney
27	chr9:116153800-116162800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:116154000-116161800	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:116154000-116162200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:116154000-116162600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr9:116154000-116163000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr9:116154000-116163000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:116154600-116162200	Weak transcription	Spleen	Spleen
34	chr9:116154800-116160200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:116154800-116161400	Weak transcription	Fetal Brain Female	brain
36	chr9:116155000-116159400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:116155000-116160200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr9:116155000-116160400	Weak transcription	Brain Substantia Nigra	brain
39	chr9:116155000-116161000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:116155000-116161600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr9:116155000-116161600	Weak transcription	Fetal Thymus	thymus
42	chr9:116155000-116162600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr9:116155600-116162000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr9:116155600-116162200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr9:116155600-116162600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr9:116155800-116159600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr9:116155800-116162400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr9:116156000-116159400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:116156000-116160200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:116156000-116160400	Weak transcription	Fetal Lung	lung

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