Variant report

Variant	rs343152
Chromosome Location	chr2:20595415-20595416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20592640..20602218-chr2:20644635..20652468,15	MCF-7	breast:
2	chr2:20593621..20596225-chr2:20647006..20648525,2	K562	blood:
3	chr2:20550164..20552284-chr2:20593869..20596397,2	MCF-7	breast:
4	chr2:20594854..20598775-chr2:20849778..20852579,3	MCF-7	breast:
5	chr2:20594707..20597635-chr2:20644222..20647598,4	MCF-7	breast:
6	chr2:20595234..20597261-chr2:20850505..20852505,2	MCF-7	breast:
7	chr2:20593175..20595883-chr2:20842379..20844457,2	MCF-7	breast:
8	chr2:20595167..20596377-chr2:20841669..20842665,4	MCF-7	breast:
9	chr2:20594752..20597920-chr2:20599422..20601687,4	MCF-7	breast:
10	chr2:20593415..20596009-chr2:20611195..20613787,2	MCF-7	breast:
11	chr2:20594606..20597852-chr2:20647913..20650943,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000212171	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000055917	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10209568	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11901184	0.96[CEU][hapmap];0.93[CHB][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12464277	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12466143	0.85[EUR][1000 genomes]
rs12471220	0.82[EUR][1000 genomes]
rs12471293	0.87[EUR][1000 genomes]
rs12477228	0.85[EUR][1000 genomes]
rs1476941	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1985318	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1985319	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2348705	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs343138	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs343140	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[ASN][1000 genomes]
rs343142	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs343143	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs343144	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343147	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs343151	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs343154	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs343161	0.84[JPT][hapmap]
rs4666306	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4666386	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4666387	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4666389	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4666390	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62124612	0.83[ASN][1000 genomes]
rs6531236	0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[ASN][1000 genomes]
rs6705947	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6734065	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67464308	0.87[EUR][1000 genomes]
rs67511352	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7563890	0.96[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7564799	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7564810	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7576439	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7576806	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7603518	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7604195	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs953927	0.93[CHB][hapmap];0.91[JPT][hapmap];0.90[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	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv581165	chr2:20581058-20616990	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs343152	GDF7	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20581600-20601000	Weak transcription	Right Atrium	heart
2	chr2:20590800-20595600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:20592600-20596000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:20592600-20600200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:20593800-20595800	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:20594000-20596400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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