Variant report

Variant	rs2385140
Chromosome Location	chr7:103862259-103862260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103846124..103848372-chr7:103861589..103863576,2	MCF-7	breast:
2	chr7:103846992..103849875-chr7:103861564..103863128,2	K562	blood:
3	chr7:103855618..103859131-chr7:103859954..103863291,3	MCF-7	breast:
4	chr7:103858966..103863231-chr7:103865702..103869473,3	K562	blood:

Variant related genes	Relation type
ENSG00000164815	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10236259	0.93[YRI][hapmap]
rs10236401	0.93[YRI][hapmap]
rs10265985	0.93[YRI][hapmap]
rs1035169	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10808128	0.90[ASW][hapmap];0.95[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.91[MKK][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10953408	0.91[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12056186	0.86[ASN][1000 genomes]
rs12056191	0.95[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.84[MKK][hapmap];0.87[ASN][1000 genomes]
rs12705180	0.84[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes]
rs12705181	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12705187	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12705190	0.84[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs12705191	0.85[MKK][hapmap]
rs12705195	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13230700	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13238183	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194837	0.93[CHD][hapmap];0.94[JPT][hapmap]
rs194841	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs194846	0.93[CHD][hapmap];0.94[JPT][hapmap]
rs194847	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs194849	0.89[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes]
rs194851	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs194857	0.93[CHD][hapmap];0.94[JPT][hapmap]
rs194858	0.83[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs194859	0.81[CEU][hapmap];0.81[AMR][1000 genomes]
rs194861	0.89[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap]
rs194865	0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs194867	0.89[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap]
rs194868	0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes]
rs2075219	0.93[YRI][hapmap]
rs2075220	1.00[YRI][hapmap]
rs2078807	0.93[YRI][hapmap]
rs2160397	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2188284	0.82[ASW][hapmap];0.93[YRI][hapmap]
rs2214009	0.93[YRI][hapmap]
rs2245659	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2283035	0.80[AMR][1000 genomes]
rs2299408	0.89[CHD][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap]
rs2299409	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2299411	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3087358	0.93[YRI][hapmap]
rs35034355	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3757734	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3779518	0.95[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs3808008	0.89[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs3808009	0.84[AMR][1000 genomes]
rs3808010	0.84[AMR][1000 genomes]
rs4140860	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4265123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4265124	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4385404	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4461830	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4486111	0.82[ASW][hapmap];0.93[YRI][hapmap]
rs62485910	0.85[ASN][1000 genomes]
rs6948583	0.91[ASW][hapmap];0.95[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.91[MKK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6961262	0.89[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs6967757	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs765408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781828	0.87[ASN][1000 genomes]
rs9918581	0.93[YRI][hapmap]
rs9918639	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	nsv1029571	chr7:103855890-103909757	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv608066	chr7:103861035-103916484	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv429789	chr7:103862259-103909757	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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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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