Variant report

Variant	rs4744513
Chromosome Location	chr9:93600193-93600194
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93598552..93601141-chr9:93613328..93615563,2	MCF-7	breast:
2	chr9:93589584..93591728-chr9:93599535..93601643,2	MCF-7	breast:
3	chr9:93595760..93597786-chr9:93599471..93602045,2	MCF-7	breast:
4	chr9:93536881..93537569-chr9:93600034..93601140,3	MCF-7	breast:
5	chr9:93562170..93565767-chr9:93598280..93603069,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165025	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1025325	0.90[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1864199	0.98[ASN][1000 genomes]
rs1864200	0.87[ASN][1000 genomes]
rs1864201	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4744514	0.91[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs7852876	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	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
7	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

No data

Chromatin state (count:41 , 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	chr9:93577800-93606200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:93580800-93603400	Weak transcription	K562	blood
4	chr9:93585600-93607800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:93589200-93606000	Weak transcription	Colonic Mucosa	Colon
6	chr9:93590000-93601600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:93591000-93603200	Weak transcription	Fetal Kidney	kidney
8	chr9:93592600-93602200	Weak transcription	Esophagus	oesophagus
9	chr9:93593600-93603400	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr9:93594200-93602800	Genic enhancers	Primary B cells from cord blood	blood
11	chr9:93595800-93603200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:93595800-93603200	Weak transcription	NHEK	skin
13	chr9:93595800-93606600	Weak transcription	Stomach Mucosa	stomach
14	chr9:93596000-93607600	Weak transcription	Fetal Intestine Large	intestine
15	chr9:93596600-93602000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:93596800-93602200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:93597600-93600200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr9:93598000-93600800	Weak transcription	Fetal Lung	lung
19	chr9:93598000-93600800	Weak transcription	Fetal Muscle Leg	muscle
20	chr9:93598000-93602200	Weak transcription	Lung	lung
21	chr9:93598000-93603200	Weak transcription	Pancreas	Pancrea
22	chr9:93598200-93606600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:93599200-93616600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:93599400-93600200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
25	chr9:93599400-93602600	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr9:93599600-93600200	Strong transcription	Fetal Stomach	stomach
27	chr9:93599600-93600400	Genic enhancers	Spleen	Spleen
28	chr9:93599600-93601000	Strong transcription	Gastric	stomach
29	chr9:93599600-93602000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr9:93599600-93602000	Enhancers	GM12878-XiMat	blood
31	chr9:93599600-93602400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:93599600-93602600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:93599600-93602600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:93599600-93602600	Strong transcription	Fetal Intestine Small	intestine
35	chr9:93599600-93602600	Genic enhancers	Monocytes-CD14+_RO01746	blood
36	chr9:93599800-93600200	Strong transcription	Fetal Thymus	thymus
37	chr9:93599800-93600400	Strong transcription	Thymus	Thymus
38	chr9:93599800-93601600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr9:93599800-93601600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr9:93599800-93603400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr9:93600000-93601200	Genic enhancers	Primary hematopoietic stem cells	blood

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