Variant report

Variant	rs1605462
Chromosome Location	chr2:189469814-189469815
allele	C/T
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189468156..189470886-chr2:189475486..189476986,2	MCF-7	breast:
2	chr2:189461232..189465911-chr2:189467782..189472229,8	MCF-7	breast:
3	chr2:189468993..189472398-chr2:189841824..189845993,5	MCF-7	breast:
4	chr2:189469791..189472156-chr2:189482699..189484262,2	K562	blood:
5	chr2:189469220..189472304-chr2:189586232..189590272,3	MCF-7	breast:
6	chr2:189468604..189471181-chr2:189847592..189850287,2	MCF-7	breast:
7	chr2:189469225..189471372-chr2:189486306..189488450,2	MCF-7	breast:
8	chr2:189389338..189392140-chr2:189468251..189470739,2	MCF-7	breast:
9	chr2:189468855..189473219-chr2:189714183..189718642,4	MCF-7	breast:
10	chr2:189453742..189456298-chr2:189468379..189470117,2	MCF-7	breast:
11	chr2:189469607..189471474-chr2:189493265..189494962,2	MCF-7	breast:
12	chr2:189468657..189470211-chr2:189498072..189500807,2	MCF-7	breast:
13	chr17:56708897..56709407-chr2:189469178..189469917,2	MCF-7	breast:
14	chr2:189468981..189471688-chr2:189714606..189717549,2	MCF-7	breast:
15	chr2:189469024..189471613-chr2:189556125..189558858,2	MCF-7	breast:
16	chr2:189467356..189470211-chr2:189473685..189475728,2	K562	blood:
17	chr2:189469579..189472035-chr2:189650010..189652348,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11685321	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11695085	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13005128	0.84[ASN][1000 genomes]
rs1354904	0.90[YRI][hapmap]
rs1354906	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1518012	0.85[CHB][hapmap]
rs1567184	0.89[YRI][hapmap]
rs4666763	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4667235	0.86[EUR][1000 genomes]
rs6724428	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs7422239	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][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	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189450400-189470600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:189450400-189475000	Weak transcription	Aorta	Aorta
3	chr2:189461800-189470600	Weak transcription	Placenta	Placenta
4	chr2:189464200-189475400	Weak transcription	Right Atrium	heart
5	chr2:189464400-189474400	Weak transcription	Fetal Lung	lung
6	chr2:189466200-189472400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:189466600-189472000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:189466600-189472200	Weak transcription	HSMM	muscle
9	chr2:189467200-189472200	Weak transcription	NHDF-Ad	bronchial
10	chr2:189467600-189471800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:189468200-189471000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:189469600-189470800	Active TSS	Stomach Smooth Muscle	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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