Variant report

Variant	rs12003593
Chromosome Location	chr9:102892991-102892992
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	chr9:102876067..102878072-chr9:102891854..102894582,2	K562	blood:
2	chr9:102887074..102889358-chr9:102889377..102893612,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11998846	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11999065	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11999333	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11999405	1.00[AMR][1000 genomes]
rs11999759	1.00[AMR][1000 genomes]
rs11999920	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12000423	1.00[AMR][1000 genomes]
rs12000833	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12001165	1.00[AMR][1000 genomes]
rs12001197	1.00[AMR][1000 genomes]
rs12001218	1.00[AMR][1000 genomes]
rs12001575	1.00[AMR][1000 genomes]
rs12003270	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12003337	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12004561	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12005084	1.00[AMR][1000 genomes]
rs12005328	1.00[AMR][1000 genomes]
rs12005758	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28704948	1.00[AMR][1000 genomes]
rs58604350	1.00[AMR][1000 genomes]
rs59127855	1.00[AMR][1000 genomes]
rs61163672	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102862200-102902400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:102867000-102899800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:102868600-102895600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr9:102869200-102901800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:102869400-102899000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:102869800-102895600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:102869800-102896400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:102870000-102895800	Weak transcription	Thymus	Thymus
9	chr9:102870000-102902200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:102871200-102897400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr9:102872000-102896600	Weak transcription	Placenta	Placenta
12	chr9:102872800-102895000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr9:102873800-102895800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:102873800-102900200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr9:102874000-102896000	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:102874000-102896000	Weak transcription	Lung	lung
17	chr9:102874200-102895600	Weak transcription	Brain Anterior Caudate	brain
18	chr9:102874200-102895800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr9:102874200-102896000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:102874200-102896200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr9:102874200-102896400	Weak transcription	Brain Hippocampus Middle	brain
22	chr9:102874200-102897600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:102874200-102898800	Weak transcription	Fetal Brain Male	brain
24	chr9:102874200-102902600	Weak transcription	HMEC	breast
25	chr9:102874200-102902600	Weak transcription	NHEK	skin
26	chr9:102874200-102912600	Weak transcription	Osteobl	bone
27	chr9:102874200-102937600	Weak transcription	Aorta	Aorta
28	chr9:102874400-102894200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr9:102874400-102896400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr9:102874600-102897800	Weak transcription	Brain Germinal Matrix	brain
31	chr9:102875000-102894200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr9:102877400-102894200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:102879800-102935000	Weak transcription	Ovary	ovary
34	chr9:102880000-102897600	Weak transcription	Adipose Nuclei	Adipose
35	chr9:102880600-102893000	Weak transcription	Fetal Lung	lung
36	chr9:102881400-102902200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr9:102882000-102899000	Weak transcription	Psoas Muscle	Psoas
38	chr9:102883000-102937600	Weak transcription	Fetal Intestine Large	intestine
39	chr9:102883200-102895600	Weak transcription	A549	lung
40	chr9:102883800-102896000	Weak transcription	Left Ventricle	heart
41	chr9:102883800-102928400	Weak transcription	Primary T cells from cord blood	blood
42	chr9:102884000-102895800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr9:102884400-102901800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr9:102884600-102893400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr9:102884800-102893200	Weak transcription	Liver	Liver
46	chr9:102884800-102898400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr9:102885200-102932600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:102885600-102895400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:102885600-102897600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:102885600-102900400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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