Variant report

Variant	rs12236475
Chromosome Location	chr9:94851103-94851104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94849623..94853423-chr9:94859037..94861746,3	MCF-7	breast:
2	chr9:94850300..94852884-chr9:94877329..94879850,2	K562	blood:
3	chr9:94850893..94855871-chr9:94857090..94860833,5	K562	blood:

Variant related genes	Relation type
ENSG00000090054	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12339869	1.00[JPT][hapmap]
rs7858974	1.00[JPT][hapmap]

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	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94810800-94860200	Weak transcription	Right Ventricle	heart
2	chr9:94817800-94877000	Weak transcription	Fetal Heart	heart
3	chr9:94822400-94860200	Weak transcription	Stomach Mucosa	stomach
4	chr9:94824000-94860400	Weak transcription	Psoas Muscle	Psoas
5	chr9:94827200-94856800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:94829000-94862600	Weak transcription	Hela-S3	cervix
7	chr9:94830000-94856800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:94830200-94856200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr9:94830200-94857000	Weak transcription	HUVEC	blood vessel
10	chr9:94830200-94860400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:94830800-94873800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr9:94833000-94857000	Weak transcription	Brain Anterior Caudate	brain
13	chr9:94833000-94858000	Weak transcription	Brain Angular Gyrus	brain
14	chr9:94839400-94861000	Weak transcription	HMEC	breast
15	chr9:94840200-94865400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr9:94840600-94872000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr9:94842200-94856400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr9:94842200-94860400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:94842200-94860400	Weak transcription	Pancreas	Pancrea
20	chr9:94842200-94860600	Weak transcription	Aorta	Aorta
21	chr9:94842200-94862400	Weak transcription	Esophagus	oesophagus
22	chr9:94842400-94860400	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:94842400-94861000	Weak transcription	Small Intestine	intestine
24	chr9:94842800-94860200	Weak transcription	Brain Germinal Matrix	brain
25	chr9:94842800-94866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:94842800-94867600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:94842800-94876600	Weak transcription	Colonic Mucosa	Colon
28	chr9:94843000-94866000	Weak transcription	Lung	lung
29	chr9:94843400-94857000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:94843400-94860200	Weak transcription	Colon Smooth Muscle	Colon
31	chr9:94843400-94860400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr9:94843800-94856000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:94844000-94852400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr9:94844000-94856600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr9:94844000-94856800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr9:94844000-94860600	Weak transcription	Spleen	Spleen
37	chr9:94844000-94861000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr9:94844200-94860200	Weak transcription	NHEK	skin
39	chr9:94849600-94851400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:94849600-94851600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr9:94849600-94851600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:94849600-94852200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr9:94849600-94853200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:94849800-94851800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
45	chr9:94850000-94851600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:94850200-94851200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr9:94850200-94851400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:94850200-94851400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr9:94850200-94851400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:94850200-94851400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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