Variant report

Variant	rs4385527
Chromosome Location	chr9:97648587-97648588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97647969..97650285-chr9:97681908..97683951,2	MCF-7	breast:
2	chr9:97643198..97646263-chr9:97646433..97648842,3	MCF-7	breast:
3	chr9:97640769..97645412-chr9:97646279..97650520,7	MCF-7	breast:
4	chr9:97648544..97650867-chr9:97765700..97767647,2	MCF-7	breast:
5	chr9:97634943..97636694-chr9:97648278..97650247,2	MCF-7	breast:
6	chr9:97646214..97649715-chr9:97676410..97681725,5	MCF-7	breast:
7	chr9:97647198..97648979-chr9:97662431..97664463,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction
ENSG00000236095	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10821401	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10821415	0.96[CEU][hapmap];0.82[JPT][hapmap]
rs10993365	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10993370	0.83[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes]
rs10993372	1.00[CEU][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10993377	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993394	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10993397	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10993398	0.96[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10993418	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1123534	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11787821	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12235316	0.96[CEU][hapmap];0.81[JPT][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1751434	0.87[EUR][1000 genomes]
rs183066	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs2183958	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2584806	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes]
rs28540393	0.85[EUR][1000 genomes]
rs35487382	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs356131	0.82[ASW][hapmap];1.00[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs356141	0.80[EUR][1000 genomes]
rs368138	0.86[EUR][1000 genomes]
rs391784	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs446540	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4744369	0.96[CEU][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap]
rs4744378	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4744403	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4744411	0.96[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7851726	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap];0.82[EUR][1000 genomes]
rs7853195	0.96[CEU][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7864171	0.86[EUR][1000 genomes]
rs7865239	0.96[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs7866848	0.96[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4385527	AUH	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97633400-97671800	Weak transcription	Esophagus	oesophagus
2	chr9:97638600-97661800	Weak transcription	Fetal Intestine Small	intestine
3	chr9:97641000-97648600	Enhancers	Fetal Heart	heart
4	chr9:97641000-97650000	Weak transcription	Brain Angular Gyrus	brain
5	chr9:97642800-97648800	Enhancers	Fetal Lung	lung
6	chr9:97644400-97652000	Weak transcription	Right Atrium	heart
7	chr9:97645400-97648600	Enhancers	HSMMtube	muscle
8	chr9:97645600-97653200	Weak transcription	Fetal Brain Male	brain
9	chr9:97646400-97649800	Weak transcription	Aorta	Aorta
10	chr9:97646600-97649800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr9:97646800-97648600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:97646800-97648800	Enhancers	Stomach Mucosa	stomach
13	chr9:97647200-97648600	Enhancers	Pancreas	Pancrea
14	chr9:97647400-97648600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:97647400-97648600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:97647400-97648600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:97647400-97648600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:97647400-97648600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:97647400-97648600	Enhancers	HepG2	liver
20	chr9:97647400-97648800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:97647400-97648800	Enhancers	HMEC	breast
22	chr9:97647400-97648800	Enhancers	HSMM	muscle
23	chr9:97647400-97649000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:97647600-97648600	Enhancers	NHEK	skin
25	chr9:97647800-97648600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:97647800-97648600	Enhancers	Liver	Liver
27	chr9:97647800-97648600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr9:97647800-97648600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr9:97647800-97649800	Enhancers	A549	lung
30	chr9:97648000-97649800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:97648000-97649800	Weak transcription	Brain Anterior Caudate	brain
32	chr9:97648000-97649800	Weak transcription	Gastric	stomach
33	chr9:97648000-97649800	Weak transcription	Hela-S3	cervix
34	chr9:97648000-97652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:97648000-97652800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr9:97648000-97657400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:97648200-97648600	Enhancers	Brain Hippocampus Middle	brain
38	chr9:97648200-97649800	Weak transcription	NHDF-Ad	bronchial
39	chr9:97648200-97650200	Weak transcription	NHLF	lung
40	chr9:97648400-97649800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:97648400-97649800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr9:97648400-97649800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr9:97648400-97649800	Weak transcription	Brain Substantia Nigra	brain
44	chr9:97648400-97649800	Weak transcription	Osteobl	bone
45	chr9:97648400-97653000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr9:97648400-97656400	Weak transcription	NH-A	brain
47	chr9:97648400-97657400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links