Variant report

Variant	rs776701
Chromosome Location	chr15:42352921-42352922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42352029..42354148-chr15:42359763..42361344,2	K562	blood:
2	chr15:42318931..42321446-chr15:42351277..42353565,2	K562	blood:
3	chr15:42352047..42353613-chr15:42354115..42356872,2	K562	blood:
4	chr15:42351204..42353281-chr15:42361163..42363132,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12593957	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1474063	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1599955	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1618007	0.91[CHB][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1668542	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1668543	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1668544	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1668545	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1668546	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1668574	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1668587	1.00[ASN][1000 genomes]
rs1668588	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1668593	0.81[TSI][hapmap]
rs1668597	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1668598	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16972233	1.00[MEX][hapmap]
rs1712412	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1712413	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1712414	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1712415	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1712416	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1712427	0.90[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs1712431	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1712433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1712438	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55818565	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58770075	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs632900	0.87[ASN][1000 genomes]
rs72727720	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72727721	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72727723	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72727724	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72727725	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74008961	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs776686	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs776690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs776694	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs776697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs776699	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776724	0.86[CHD][hapmap]
rs8028419	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs810325	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv471683	chr15:42334375-42502982	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1043641	chr15:42336584-42381240	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv904131	chr15:42343794-42390223	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv904132	chr15:42343794-42398046	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42343000-42357600	Weak transcription	Lung	lung
2	chr15:42349400-42356200	Weak transcription	Right Atrium	heart
3	chr15:42349600-42358200	Weak transcription	Brain Anterior Caudate	brain
4	chr15:42349800-42357000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:42350000-42357200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:42350000-42357200	Weak transcription	Spleen	Spleen
7	chr15:42350400-42355200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:42350400-42362600	Weak transcription	Gastric	stomach
9	chr15:42350600-42357200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:42350600-42358400	Weak transcription	NHEK	skin
11	chr15:42350800-42355800	Weak transcription	HMEC	breast
12	chr15:42350800-42358400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr15:42351800-42353200	Enhancers	Placenta	Placenta
14	chr15:42351800-42353800	Enhancers	Liver	Liver
15	chr15:42352000-42356800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:42352200-42353000	Enhancers	Stomach Mucosa	stomach
17	chr15:42352200-42353400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr15:42352200-42357200	Enhancers	HepG2	liver
19	chr15:42352400-42353400	Enhancers	Pancreas	Pancrea
20	chr15:42352400-42353400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr15:42352600-42357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:42352800-42353200	Enhancers	Fetal Muscle Trunk	muscle

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