Variant report

Variant	rs17712446
Chromosome Location	chr15:39936831-39936832
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	chr15:39936644..39939290-chr15:39941408..39943879,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1166714	1.00[ASN][1000 genomes]
rs11854571	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12899512	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906874	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911910	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12912555	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12914638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969551	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16969824	1.00[ASN][1000 genomes]
rs16969826	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]
rs8034520	1.00[CEU][hapmap]

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:31 , 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	chr15:39933800-39937000	Weak transcription	HepG2	liver
6	chr15:39933800-39937800	Enhancers	HSMM	muscle
7	chr15:39934000-39937400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:39934200-39938000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:39934800-39937400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr15:39934800-39937600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr15:39934800-39937600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:39934800-39937600	Weak transcription	Esophagus	oesophagus
13	chr15:39934800-39937600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr15:39934800-39937800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr15:39934800-39937800	Enhancers	NHEK	skin
16	chr15:39934800-39938200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:39935200-39938600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr15:39935400-39937400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:39935400-39937400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:39936000-39938000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr15:39936400-39937000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:39936400-39937000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:39936400-39937600	Enhancers	Fetal Muscle Trunk	muscle
24	chr15:39936400-39938000	Enhancers	Fetal Muscle Leg	muscle
25	chr15:39936400-39938000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr15:39936400-39938200	Enhancers	Right Ventricle	heart
27	chr15:39936400-39938400	Enhancers	Left Ventricle	heart
28	chr15:39936600-39937200	Weak transcription	HSMMtube	muscle
29	chr15:39936800-39937200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:39936800-39937600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:39936800-39937800	Enhancers	Fetal Heart	heart

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