Variant report

Variant	rs376648
Chromosome Location	chr9:93727261-93727262
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	chr9:93725314..93727496-chr9:94182196..94184218,2	MCF-7	breast:
2	chr9:93725779..93727886-chr9:94185947..94188539,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233081	Chromatin interaction
ENSG00000165030	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1041381	0.91[EUR][1000 genomes]
rs158683	0.91[EUR][1000 genomes]
rs1675292	0.91[EUR][1000 genomes]
rs1675293	0.91[EUR][1000 genomes]
rs1675295	0.91[EUR][1000 genomes]
rs1675296	0.91[EUR][1000 genomes]
rs1675297	0.91[EUR][1000 genomes]
rs1675298	0.91[EUR][1000 genomes]
rs1675302	0.91[EUR][1000 genomes]
rs1675303	0.91[EUR][1000 genomes]
rs1675305	0.91[EUR][1000 genomes]
rs1675306	0.91[EUR][1000 genomes]
rs1675307	0.91[EUR][1000 genomes]
rs169743	0.91[EUR][1000 genomes]
rs1755982	0.91[EUR][1000 genomes]
rs1755983	0.91[EUR][1000 genomes]
rs184114	0.91[EUR][1000 genomes]
rs190029	0.91[EUR][1000 genomes]
rs2774255	0.91[EUR][1000 genomes]
rs291746	0.91[EUR][1000 genomes]
rs291747	0.91[EUR][1000 genomes]
rs291749	0.91[EUR][1000 genomes]
rs291752	0.91[EUR][1000 genomes]
rs291754	0.91[EUR][1000 genomes]
rs291755	0.91[EUR][1000 genomes]
rs291757	0.91[EUR][1000 genomes]
rs291758	0.83[EUR][1000 genomes]
rs291759	0.91[EUR][1000 genomes]
rs291761	0.91[EUR][1000 genomes]
rs291763	0.91[EUR][1000 genomes]
rs296653	0.91[EUR][1000 genomes]
rs296654	0.91[EUR][1000 genomes]
rs296656	0.91[EUR][1000 genomes]
rs296658	0.91[EUR][1000 genomes]
rs296659	0.91[EUR][1000 genomes]
rs296660	0.91[EUR][1000 genomes]
rs296662	0.91[EUR][1000 genomes]
rs296670	0.91[EUR][1000 genomes]
rs296674	1.00[EUR][1000 genomes]
rs296675	0.90[EUR][1000 genomes]
rs296678	1.00[EUR][1000 genomes]
rs296685	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs296687	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs296689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs296692	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs296694	0.90[EUR][1000 genomes]
rs296697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs296704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs296705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs296706	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs296707	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs296712	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs296720	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs296723	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs296727	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs296729	0.81[EUR][1000 genomes]
rs364622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs390574	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs426365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93724200-93728000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:93724200-93728200	Weak transcription	HMEC	breast
3	chr9:93724200-93728600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:93724200-93736000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:93724400-93728600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr9:93726200-93727400	Enhancers	Primary B cells from peripheral blood	blood
7	chr9:93726200-93730600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr9:93726200-93731400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr9:93726400-93727400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:93726400-93727400	Enhancers	Stomach Mucosa	stomach
11	chr9:93726400-93727600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:93726400-93727600	Active TSS	Aorta	Aorta
13	chr9:93726400-93727600	Active TSS	Brain Hippocampus Middle	brain
14	chr9:93726400-93727600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr9:93726400-93727600	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr9:93726400-93727800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:93726400-93728000	Active TSS	Colon Smooth Muscle	Colon
18	chr9:93726400-93728000	Enhancers	Fetal Lung	lung
19	chr9:93726400-93729600	Enhancers	NHDF-Ad	bronchial
20	chr9:93726400-93730200	Enhancers	NH-A	brain
21	chr9:93726400-93730400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:93726600-93727400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr9:93726600-93727400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr9:93726600-93727400	Bivalent Enhancer	Left Ventricle	heart
25	chr9:93726600-93727600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:93726600-93727600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:93726600-93727600	Flanking Active TSS	Placenta	Placenta
28	chr9:93726600-93727600	Active TSS	Rectal Smooth Muscle	rectum
29	chr9:93726600-93727600	Active TSS	Stomach Smooth Muscle	stomach
30	chr9:93726600-93727600	Enhancers	Spleen	Spleen
31	chr9:93726600-93727800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:93726600-93728200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr9:93726600-93729600	Enhancers	Esophagus	oesophagus
34	chr9:93726800-93727400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:93726800-93727600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr9:93726800-93727600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr9:93726800-93727800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:93726800-93727800	Active TSS	Ovary	ovary
39	chr9:93726800-93728000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:93726800-93730800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:93727000-93727800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:93727000-93728000	Weak transcription	Fetal Heart	heart
43	chr9:93727000-93728000	Weak transcription	Osteobl	bone
44	chr9:93727000-93729200	Weak transcription	GM12878-XiMat	blood
45	chr9:93727200-93727400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:93727200-93727600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:93727200-93727600	Flanking Active TSS	Fetal Stomach	stomach
48	chr9:93727200-93727600	Flanking Active TSS	NHEK	skin
49	chr9:93727200-93727800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr9:93727200-93728200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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