Variant report

Variant	rs10992454
Chromosome Location	chr9:95529073-95529074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95494848..95496493-chr9:95528400..95531111,2	MCF-7	breast:
2	chr9:95423683..95425377-chr9:95528683..95530646,2	K562	blood:
3	chr9:95527312..95529710-chr9:95541794..95545254,3	K562	blood:
4	chr9:95086140..95089391-chr9:95526124..95530104,3	K562	blood:
5	chr9:95527433..95529305-chr9:95894680..95896592,2	MCF-7	breast:
6	chr9:95428069..95433526-chr9:95524054..95531235,7	MCF-7	breast:
7	chr9:95431564..95435112-chr9:95528754..95531764,3	K562	blood:

Variant related genes	Relation type
ENSG00000188312	Chromatin interaction
ENSG00000131669	Chromatin interaction
ENSG00000127080	Chromatin interaction
ENSG00000198000	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1010823	0.83[AFR][1000 genomes]
rs10821012	0.83[AFR][1000 genomes]
rs10821015	0.80[AFR][1000 genomes]
rs10821016	0.80[AFR][1000 genomes]
rs10992436	0.85[AFR][1000 genomes]
rs10992438	0.87[AFR][1000 genomes]
rs10992441	0.83[AFR][1000 genomes]
rs10992443	0.87[AFR][1000 genomes]
rs10992444	0.87[AFR][1000 genomes]
rs10992445	0.87[AFR][1000 genomes]
rs10992451	0.83[AFR][1000 genomes]
rs10992456	0.87[AFR][1000 genomes]
rs10992462	0.90[AFR][1000 genomes]
rs1125063	0.83[AFR][1000 genomes]
rs1125064	0.83[AFR][1000 genomes]
rs12236516	0.90[AFR][1000 genomes]
rs12236747	0.90[AFR][1000 genomes]
rs12683944	0.87[AFR][1000 genomes]
rs12685257	0.83[AFR][1000 genomes]
rs12685780	0.83[AFR][1000 genomes]
rs12685791	0.81[AFR][1000 genomes]
rs4545157	0.87[AFR][1000 genomes]
rs56111209	0.90[AFR][1000 genomes]
rs57421019	0.90[AFR][1000 genomes]
rs57720404	0.83[AFR][1000 genomes]
rs60173654	0.83[AFR][1000 genomes]
rs68046436	0.87[AFR][1000 genomes]
rs753802	0.83[AFR][1000 genomes]
rs8181065	0.87[AFR][1000 genomes]
rs912259	0.83[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430081	chr9:95502571-95568110	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95528200-95529800	Weak transcription	Gastric	stomach
2	chr9:95528200-95532600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:95528200-95532600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:95528200-95533400	Enhancers	Stomach Mucosa	stomach
5	chr9:95528400-95529200	Enhancers	Primary B cells from cord blood	blood
6	chr9:95528400-95530800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr9:95528400-95531800	Weak transcription	Primary T cells from cord blood	blood
8	chr9:95528400-95532400	Weak transcription	Psoas Muscle	Psoas
9	chr9:95528400-95532600	Weak transcription	Placenta	Placenta
10	chr9:95528600-95529800	Weak transcription	Colonic Mucosa	Colon
11	chr9:95528600-95529800	Weak transcription	Esophagus	oesophagus
12	chr9:95528600-95529800	Weak transcription	Pancreas	Pancrea
13	chr9:95528600-95529800	Weak transcription	Right Ventricle	heart
14	chr9:95528600-95530000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:95528600-95530400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:95528600-95531800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:95528600-95532200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr9:95528600-95532400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:95528600-95532400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:95528600-95532400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr9:95528600-95532400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr9:95528600-95532400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:95528600-95532600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr9:95528600-95532600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr9:95528600-95532600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:95528600-95532600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:95528600-95532600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr9:95528600-95532600	Weak transcription	Brain Anterior Caudate	brain
29	chr9:95528600-95532600	Weak transcription	Brain Hippocampus Middle	brain
30	chr9:95528600-95532600	Weak transcription	Fetal Thymus	thymus
31	chr9:95528600-95532800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr9:95528600-95532800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr9:95528600-95532800	Weak transcription	Small Intestine	intestine
34	chr9:95528600-95533000	Weak transcription	Thymus	Thymus
35	chr9:95528800-95529200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr9:95528800-95529800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:95528800-95529800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:95528800-95529800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:95528800-95529800	Weak transcription	Left Ventricle	heart
40	chr9:95528800-95529800	Weak transcription	Lung	lung
41	chr9:95528800-95529800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr9:95528800-95530400	Weak transcription	Fetal Heart	heart
43	chr9:95528800-95530600	Weak transcription	Right Atrium	heart
44	chr9:95528800-95530800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr9:95528800-95530800	Weak transcription	Fetal Intestine Large	intestine
46	chr9:95528800-95530800	Weak transcription	Spleen	Spleen
47	chr9:95528800-95530800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr9:95528800-95531000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr9:95528800-95531200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:95528800-95531600	Weak transcription	Primary B cells from peripheral blood	blood

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