Variant report

Variant	rs12914638
Chromosome Location	chr15:39935852-39935853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:39934745..39936337-chr15:39938200..39940638,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1166714	1.00[ASN][1000 genomes]
rs11854571	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12899512	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906874	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911910	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12912555	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12915867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969527	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969551	0.89[EUR][1000 genomes]
rs16969824	1.00[ASN][1000 genomes]
rs16969826	1.00[ASN][1000 genomes]
rs17712446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34118678	1.00[ASN][1000 genomes]
rs34253013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34565631	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34775207	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4142520	0.90[EUR][1000 genomes]
rs55968896	1.00[ASN][1000 genomes]
rs62002390	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62002419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62002435	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639230	1.00[ASN][1000 genomes]
rs74008878	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv832977	chr15:39817512-39981520	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1048628	chr15:39877498-39940104	Enhancers Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39916400-39937800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:39921400-39937600	Weak transcription	Psoas Muscle	Psoas
3	chr15:39923800-39939600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:39931400-39937000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:39933000-39936000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr15:39933800-39937000	Weak transcription	HepG2	liver
7	chr15:39933800-39937800	Enhancers	HSMM	muscle
8	chr15:39934000-39936400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:39934000-39937400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:39934200-39938000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:39934400-39936000	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr15:39934800-39936000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr15:39934800-39936200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:39934800-39936400	Weak transcription	Left Ventricle	heart
15	chr15:39934800-39936400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr15:39934800-39936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:39934800-39937400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:39934800-39937600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr15:39934800-39937600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:39934800-39937600	Weak transcription	Esophagus	oesophagus
21	chr15:39934800-39937600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr15:39934800-39937800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr15:39934800-39937800	Enhancers	NHEK	skin
24	chr15:39934800-39938200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:39935000-39936400	Weak transcription	HSMMtube	muscle
26	chr15:39935000-39936800	Weak transcription	Fetal Heart	heart
27	chr15:39935200-39936000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr15:39935200-39936200	Weak transcription	NH-A	brain
29	chr15:39935200-39938600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr15:39935400-39936000	Weak transcription	NHDF-Ad	bronchial
31	chr15:39935400-39936400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr15:39935400-39936600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:39935400-39936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:39935400-39937400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:39935400-39937400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:39935600-39936400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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