Variant report

Variant	rs34754517
Chromosome Location	chr7:107889817-107889818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107874811..107876975-chr7:107889006..107891244,2	K562	blood:
2	chr7:107889555..107891760-chr7:107925759..107927489,2	MCF-7	breast:
3	chr7:107887211..107889896-chr7:108095081..108098683,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091129	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10487842	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10487843	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10953560	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11980184	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11980771	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11984362	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12534073	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12534706	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12536606	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12538125	0.89[EUR][1000 genomes]
rs12705439	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13228054	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228675	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13231463	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13237289	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13242621	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13245910	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13247108	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1548950	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17155187	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17155196	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17155335	0.88[EUR][1000 genomes]
rs17331230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111203	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191046	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2193252	0.89[EUR][1000 genomes]
rs2193253	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2193254	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2267876	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2267877	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2267878	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2272617	0.89[EUR][1000 genomes]
rs2284284	0.86[EUR][1000 genomes]
rs2299992	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2299996	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2299999	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2300000	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2300002	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34723270	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55643449	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67133820	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6958333	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6964282	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6977003	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6980041	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71568512	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73199565	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7776972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783282	0.84[AMR][1000 genomes]
rs7784186	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7789291	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7795834	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7796675	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7809003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107884800-107890600	Weak transcription	Brain Substantia Nigra	brain
2	chr7:107886000-107891200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:107886800-107890200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:107887200-107890600	Weak transcription	Right Atrium	heart
5	chr7:107887200-107891800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:107887400-107890200	Weak transcription	Fetal Intestine Small	intestine
7	chr7:107887400-107892000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:107887400-107892000	Weak transcription	Pancreas	Pancrea
9	chr7:107887400-107893800	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:107887400-107894000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:107887400-107925000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:107887600-107890600	Weak transcription	Esophagus	oesophagus
13	chr7:107887800-107894000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:107888000-107906800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:107888400-107892000	Weak transcription	HSMMtube	muscle
16	chr7:107888400-107892200	Weak transcription	HSMM	muscle
17	chr7:107888600-107892000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:107888600-107892000	Weak transcription	K562	blood
19	chr7:107888800-107890600	Enhancers	Fetal Kidney	kidney
20	chr7:107889000-107890000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:107889000-107890000	Enhancers	Brain Anterior Caudate	brain
22	chr7:107889000-107890200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:107889000-107890800	Enhancers	HepG2	liver
24	chr7:107889400-107890600	Enhancers	Fetal Intestine Large	intestine
25	chr7:107889400-107892000	Weak transcription	Brain Angular Gyrus	brain
26	chr7:107889400-107893800	Weak transcription	HMEC	breast
27	chr7:107889400-107894200	Weak transcription	Osteobl	bone
28	chr7:107889600-107890000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:107889600-107892000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:107889800-107890000	Enhancers	Brain Hippocampus Middle	brain
31	chr7:107889800-107890400	Flanking Active TSS	A549	lung
32	chr7:107889800-107892000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:107889800-107892000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:107889800-107892000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:107889800-107892200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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