Variant report

Variant	rs2391305
Chromosome Location	chr7:26687417-26687418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26677985..26680771-chr7:26686507..26688099,2	K562	blood:
2	chr7:26681710..26684332-chr7:26686798..26688531,2	K562	blood:
3	chr7:26681710..26684208-chr7:26686394..26688298,2	K562	blood:
4	chr7:26686597..26689327-chr7:26690764..26692323,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1012803	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1015857	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10242687	0.98[ASN][1000 genomes]
rs10248160	0.90[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs1029436	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10486470	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10486471	0.90[EUR][1000 genomes]
rs1125542	0.98[ASN][1000 genomes]
rs11972163	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12668342	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12671270	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17154152	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17154189	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2106904	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2391306	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35970226	0.90[EUR][1000 genomes]
rs4722627	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57000259	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57999903	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58317468	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58394627	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58630663	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59304553	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59641892	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62446555	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6461960	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6943736	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6944239	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6944318	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6960206	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6968658	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72595043	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7782588	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7785804	0.98[ASN][1000 genomes]
rs7787608	0.90[ASN][1000 genomes]
rs7798139	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7804935	0.85[CHB][hapmap]
rs7805328	0.83[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs7807676	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1020378	chr7:26679880-26733872	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26671200-26693200	Weak transcription	Spleen	Spleen
2	chr7:26678400-26693200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:26678800-26715400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:26679400-26710000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:26680400-26704400	Weak transcription	Primary B cells from cord blood	blood
6	chr7:26682400-26692200	Weak transcription	Pancreas	Pancrea
7	chr7:26685000-26688200	Enhancers	Placenta	Placenta
8	chr7:26685600-26704400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:26686200-26693000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:26686400-26701600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:26687000-26689400	Enhancers	Hela-S3	cervix
12	chr7:26687200-26688800	Enhancers	Fetal Kidney	kidney
13	chr7:26687400-26687600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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