Variant report

Variant	rs12953401
Chromosome Location	chr18:9095600-9095601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9090630..9098108-chr18:9101820..9106792,10	MCF-7	breast:
2	chr18:9074118..9075688-chr18:9095487..9097097,2	MCF-7	breast:
3	chr18:9094662..9097779-chr18:9135218..9140540,6	K562	blood:
4	chr18:9095340..9097424-chr18:9134663..9136718,2	K562	blood:
5	chr18:9092915..9099777-chr18:9099997..9106148,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265257	Chromatin interaction
ENSG00000178127	Chromatin interaction
ENSG00000266053	Chromatin interaction
ENSG00000101745	Chromatin interaction

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

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

rs_ID	r²[population]
rs16954792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497377	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2377962	1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9083400-9097200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr18:9091200-9096200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr18:9092200-9096000	Enhancers	HUVEC	blood vessel
4	chr18:9093000-9095600	Enhancers	Liver	Liver
5	chr18:9093600-9096000	Enhancers	Osteobl	bone
6	chr18:9093600-9096200	Enhancers	Hela-S3	cervix
7	chr18:9093800-9096000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr18:9093800-9096200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr18:9093800-9096200	Enhancers	Colon Smooth Muscle	Colon
10	chr18:9094000-9096000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:9094000-9096000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:9094000-9096000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr18:9094000-9096000	Enhancers	Small Intestine	intestine
14	chr18:9094000-9096000	Enhancers	NHLF	lung
15	chr18:9094200-9095600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:9094200-9095600	Enhancers	NHDF-Ad	bronchial
17	chr18:9094200-9095800	Flanking Active TSS	HepG2	liver
18	chr18:9094200-9096000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:9094200-9096000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr18:9094400-9095600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:9094400-9095800	Enhancers	Fetal Intestine Large	intestine
22	chr18:9094400-9095800	Enhancers	Fetal Intestine Small	intestine
23	chr18:9094400-9095800	Enhancers	Fetal Stomach	stomach
24	chr18:9094400-9096000	Enhancers	Fetal Heart	heart
25	chr18:9094400-9096000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr18:9094400-9096000	Enhancers	Stomach Mucosa	stomach
27	chr18:9094400-9096000	Flanking Active TSS	A549	lung
28	chr18:9094400-9096200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr18:9094400-9096200	Enhancers	Primary T cells from cord blood	blood
30	chr18:9094600-9095600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr18:9094600-9096000	Flanking Active TSS	K562	blood
32	chr18:9094600-9096200	Enhancers	Primary B cells from cord blood	blood
33	chr18:9094600-9101400	Weak transcription	Placenta	Placenta
34	chr18:9094800-9095600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:9094800-9095800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr18:9094800-9096000	Enhancers	Fetal Thymus	thymus
37	chr18:9094800-9096000	Enhancers	Thymus	Thymus
38	chr18:9094800-9096000	Enhancers	NH-A	brain
39	chr18:9094800-9096200	Enhancers	Primary B cells from peripheral blood	blood
40	chr18:9095000-9096000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:9095000-9096000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr18:9095200-9095600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr18:9095200-9095600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr18:9095200-9095600	Enhancers	Brain Angular Gyrus	brain
45	chr18:9095200-9095600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr18:9095200-9095600	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr18:9095200-9095800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr18:9095200-9095800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr18:9095200-9095800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr18:9095200-9095800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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