Variant report

Variant	rs10993740
Chromosome Location	chr9:93635367-93635368
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93633763..93637108-chr9:93639159..93643075,3	MCF-7	breast:
2	chr9:93628438..93632863-chr9:93633146..93636625,4	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10993730	1.00[AMR][1000 genomes]
rs10993738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs10993745	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12684347	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2306042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2991216	0.94[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs59057775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59844916	1.00[ASN][1000 genomes]
rs60516153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72729078	0.99[ASN][1000 genomes]
rs72729082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93601800-93642200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:93611200-93642200	Weak transcription	Stomach Mucosa	stomach
3	chr9:93617200-93640600	Weak transcription	K562	blood
4	chr9:93617400-93640600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:93617800-93640600	Weak transcription	NHEK	skin
6	chr9:93623600-93642400	Weak transcription	Adipose Nuclei	Adipose
7	chr9:93625000-93636600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:93625000-93642200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:93625200-93642400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:93625600-93636400	Weak transcription	Lung	lung
11	chr9:93625800-93635800	Weak transcription	Esophagus	oesophagus
12	chr9:93626000-93647800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr9:93627600-93636400	Weak transcription	Small Intestine	intestine
14	chr9:93629200-93640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:93629600-93639400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:93629800-93635600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr9:93629800-93639400	Weak transcription	Colonic Mucosa	Colon
18	chr9:93630000-93635600	Weak transcription	Fetal Intestine Large	intestine
19	chr9:93630000-93635800	Weak transcription	Spleen	Spleen
20	chr9:93630000-93639400	Weak transcription	Gastric	stomach
21	chr9:93630000-93644800	Weak transcription	Pancreas	Pancrea
22	chr9:93632600-93641600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr9:93633400-93636600	Weak transcription	Fetal Kidney	kidney
24	chr9:93633400-93645800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr9:93633800-93635800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:93633800-93637400	Strong transcription	Primary B cells from cord blood	blood
27	chr9:93633800-93637600	Strong transcription	Fetal Thymus	thymus
28	chr9:93633800-93645400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr9:93634000-93637200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr9:93634000-93638200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr9:93634000-93642600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:93634000-93645800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr9:93634000-93646200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:93634000-93646400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:93634000-93666200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr9:93634400-93636000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr9:93634400-93646600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr9:93634800-93637200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr9:93634800-93637200	Strong transcription	GM12878-XiMat	blood
40	chr9:93634800-93638000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr9:93635200-93635600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr9:93635200-93635600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr9:93635200-93635600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr9:93635200-93635600	Active TSS	Hela-S3	cervix
45	chr9:93635200-93635800	Enhancers	Fetal Heart	heart
46	chr9:93635200-93636000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:93635200-93637200	Strong transcription	Fetal Stomach	stomach
48	chr9:93635200-93637200	Strong transcription	Thymus	Thymus
49	chr9:93635200-93640800	Strong transcription	Fetal Intestine Small	intestine

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