Variant report

Variant	rs12004706
Chromosome Location	chr9:93597537-93597538
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	chr9:93557495..93560173-chr9:93596413..93598052,2	MCF-7	breast:
2	chr9:93595760..93597786-chr9:93599471..93602045,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12555502	0.86[ASN][1000 genomes]
rs17489214	0.86[ASN][1000 genomes]
rs35758162	0.86[ASN][1000 genomes]
rs56222210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62559065	0.87[AMR][1000 genomes]
rs62559143	0.86[ASN][1000 genomes]
rs62559145	0.86[ASN][1000 genomes]
rs62559146	0.86[ASN][1000 genomes]
rs7030222	0.86[ASN][1000 genomes]
rs72729051	0.86[ASN][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	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv893567	chr9:93519280-93609668	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831652	chr9:93527411-93696923	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv893568	chr9:93539879-93774385	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1038685	chr9:93556174-93685729	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93565000-93609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:93577000-93598800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:93577800-93606200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:93580800-93603400	Weak transcription	K562	blood
5	chr9:93583000-93599600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:93585600-93607800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:93589200-93606000	Weak transcription	Colonic Mucosa	Colon
8	chr9:93590000-93601600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr9:93591000-93599600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr9:93591000-93603200	Weak transcription	Fetal Kidney	kidney
11	chr9:93592600-93602200	Weak transcription	Esophagus	oesophagus
12	chr9:93593600-93603400	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr9:93594200-93602800	Genic enhancers	Primary B cells from cord blood	blood
14	chr9:93595200-93597800	Strong transcription	Thymus	Thymus
15	chr9:93595400-93599600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr9:93595800-93603200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:93595800-93603200	Weak transcription	NHEK	skin
18	chr9:93595800-93606600	Weak transcription	Stomach Mucosa	stomach
19	chr9:93596000-93607600	Weak transcription	Fetal Intestine Large	intestine
20	chr9:93596400-93598200	Genic enhancers	Monocytes-CD14+_RO01746	blood
21	chr9:93596600-93598800	Weak transcription	GM12878-XiMat	blood
22	chr9:93596600-93599600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr9:93596600-93602000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:93596800-93597600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr9:93596800-93597800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr9:93596800-93599600	Weak transcription	Fetal Intestine Small	intestine
27	chr9:93596800-93599800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr9:93596800-93602200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:93597000-93599000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr9:93597200-93598000	Enhancers	Fetal Stomach	stomach
31	chr9:93597200-93598000	Enhancers	Lung	lung
32	chr9:93597200-93598000	Enhancers	Pancreas	Pancrea
33	chr9:93597200-93598000	Genic enhancers	Spleen	Spleen
34	chr9:93597200-93598800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr9:93597400-93597800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:93597400-93597800	Enhancers	Gastric	stomach
37	chr9:93597400-93598000	Enhancers	Adipose Nuclei	Adipose
38	chr9:93597400-93598000	Enhancers	Brain Germinal Matrix	brain
39	chr9:93597400-93598000	Enhancers	Fetal Lung	lung
40	chr9:93597400-93598000	Enhancers	Right Ventricle	heart
41	chr9:93597400-93598200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:93597400-93598200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr9:93597400-93598200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr9:93597400-93599800	Weak transcription	Fetal Thymus	thymus

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