Variant report

Variant	rs12005084
Chromosome Location	chr9:103045478-103045479
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	chr9:103037852..103042243-chr9:103042555..103047658,4	K562	blood:
2	chr9:103039312..103042243-chr9:103045251..103047658,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11998846	1.00[AMR][1000 genomes]
rs11999065	1.00[AMR][1000 genomes]
rs11999333	1.00[AMR][1000 genomes]
rs11999405	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11999759	1.00[AMR][1000 genomes]
rs11999920	1.00[AMR][1000 genomes]
rs12000423	1.00[AMR][1000 genomes]
rs12000833	1.00[AMR][1000 genomes]
rs12001165	1.00[AMR][1000 genomes]
rs12001197	1.00[AMR][1000 genomes]
rs12001218	1.00[AMR][1000 genomes]
rs12001575	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12003270	1.00[AMR][1000 genomes]
rs12003337	1.00[AMR][1000 genomes]
rs12003593	1.00[AMR][1000 genomes]
rs12004561	1.00[AMR][1000 genomes]
rs12005328	1.00[AMR][1000 genomes]
rs12005758	1.00[AMR][1000 genomes]
rs28704948	1.00[AMR][1000 genomes]
rs58290582	1.00[AMR][1000 genomes]
rs58604350	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59127855	1.00[AMR][1000 genomes]
rs61163672	1.00[AMR][1000 genomes]

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	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv1835721	chr9:102991314-103096666	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102972600-103046600	Weak transcription	Psoas Muscle	Psoas
2	chr9:102973000-103053800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr9:102974000-103047600	Weak transcription	Fetal Brain Male	brain
4	chr9:102975800-103045800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:102976800-103047800	Weak transcription	Fetal Heart	heart
6	chr9:102979400-103054600	Weak transcription	NHEK	skin
7	chr9:102987400-103045800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr9:102987400-103054600	Weak transcription	Gastric	stomach
9	chr9:102989400-103047200	Weak transcription	GM12878-XiMat	blood
10	chr9:102994800-103046600	Weak transcription	Pancreas	Pancrea
11	chr9:102997800-103054400	Weak transcription	Colonic Mucosa	Colon
12	chr9:103003400-103046800	Weak transcription	HMEC	breast
13	chr9:103009400-103047600	Weak transcription	HUVEC	blood vessel
14	chr9:103013000-103047400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr9:103015000-103046800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:103015400-103046400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:103015400-103046600	Weak transcription	Brain Substantia Nigra	brain
18	chr9:103015400-103046800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:103015600-103046600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr9:103016000-103047200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr9:103022000-103047800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:103023800-103046200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:103026200-103047600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:103027800-103046600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr9:103027800-103046600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr9:103028000-103046400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:103028200-103046200	Weak transcription	Fetal Kidney	kidney
28	chr9:103028400-103046200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:103028600-103046400	Weak transcription	Brain Germinal Matrix	brain
30	chr9:103029000-103053600	Weak transcription	Hela-S3	cervix
31	chr9:103029200-103046000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr9:103029200-103046600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr9:103029200-103047000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr9:103029200-103047600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr9:103029200-103054600	Weak transcription	Brain Angular Gyrus	brain
36	chr9:103029800-103046600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:103029800-103047400	Weak transcription	HepG2	liver
38	chr9:103031200-103046400	Weak transcription	Small Intestine	intestine
39	chr9:103034200-103047200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr9:103034800-103047400	Strong transcription	Primary T cells from cord blood	blood
41	chr9:103035000-103046000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:103035000-103047200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:103035600-103046200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr9:103035600-103046600	Weak transcription	Lung	lung
45	chr9:103035600-103046600	Weak transcription	Spleen	Spleen
46	chr9:103035800-103046000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr9:103035800-103046600	Weak transcription	Esophagus	oesophagus
48	chr9:103035800-103046600	Weak transcription	Fetal Brain Female	brain
49	chr9:103035800-103046600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr9:103035800-103046600	Weak transcription	Rectal Mucosa Donor 31	rectum

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