Variant report

Variant	rs10993730
Chromosome Location	chr9:93623372-93623373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93612029..93614987-chr9:93622441..93624241,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10993740	1.00[AMR][1000 genomes]
rs10993745	1.00[AMR][1000 genomes]
rs2306042	1.00[AMR][1000 genomes]
rs59057775	1.00[AMR][1000 genomes]
rs60516153	1.00[AMR][1000 genomes]
rs72729059	1.00[AFR][1000 genomes]
rs72729082	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	nsv1039761	chr9:93598856-93677831	Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1039326	chr9:93598856-93685729	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv430078	chr9:93609668-93642766	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1053252	chr9:93610132-93699103	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv430079	chr9:93620963-93642766	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93601800-93642200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:93605000-93633000	Weak transcription	Fetal Kidney	kidney
3	chr9:93605800-93631000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr9:93608200-93624400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:93610400-93624600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr9:93611200-93642200	Weak transcription	Stomach Mucosa	stomach
7	chr9:93614800-93623800	Weak transcription	Left Ventricle	heart
8	chr9:93615400-93624000	Weak transcription	Gastric	stomach
9	chr9:93615600-93623600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr9:93616800-93624400	Weak transcription	Lung	lung
11	chr9:93617200-93624000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:93617200-93640600	Weak transcription	K562	blood
13	chr9:93617400-93629600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:93617400-93640600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:93617600-93623400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:93617800-93640600	Weak transcription	NHEK	skin
17	chr9:93619000-93623800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr9:93619200-93623600	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr9:93619400-93630000	Strong transcription	Thymus	Thymus
20	chr9:93619800-93627000	Strong transcription	Fetal Intestine Small	intestine
21	chr9:93620600-93624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:93620800-93625600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:93621200-93626600	Strong transcription	Fetal Thymus	thymus
24	chr9:93621200-93631400	Strong transcription	Primary B cells from cord blood	blood
25	chr9:93621400-93623800	Genic enhancers	Monocytes-CD14+_RO01746	blood
26	chr9:93621600-93626200	Weak transcription	Primary T cells from cord blood	blood
27	chr9:93621800-93623800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr9:93621800-93623800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr9:93622200-93624200	Weak transcription	Fetal Intestine Large	intestine
30	chr9:93622400-93629200	Weak transcription	Pancreas	Pancrea
31	chr9:93622600-93623400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr9:93622600-93623600	Genic enhancers	Spleen	Spleen
33	chr9:93622600-93631200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr9:93622800-93623600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr9:93622800-93630000	Strong transcription	Fetal Stomach	stomach
36	chr9:93623000-93623400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:93623000-93623400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:93623000-93623400	Weak transcription	Adipose Nuclei	Adipose
39	chr9:93623000-93626400	Weak transcription	Small Intestine	intestine
40	chr9:93623200-93625800	Strong transcription	Esophagus	oesophagus
41	chr9:93623200-93626000	Strong transcription	Primary hematopoietic stem cells	blood
42	chr9:93623200-93626200	Strong transcription	Colonic Mucosa	Colon
43	chr9:93623200-93626800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:93623200-93630000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr9:93623200-93630800	Strong transcription	GM12878-XiMat	blood

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