Variant report

Variant	rs347115
Chromosome Location	chr15:59082959-59082960
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	chr15:59063503..59065651-chr15:59082351..59084148,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128923	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11071398	1.00[YRI][hapmap]
rs11638244	0.85[YRI][hapmap]
rs11854073	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap]
rs12899638	0.95[YRI][hapmap]
rs1427281	1.00[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap]
rs1427282	1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]
rs1648532	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17190727	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2555356	1.00[CHB][hapmap];0.87[YRI][hapmap]
rs2555357	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2657125	0.95[YRI][hapmap]
rs28864995	0.92[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.95[YRI][hapmap]
rs347117	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.92[TSI][hapmap];0.95[YRI][hapmap]
rs383902	0.83[ASW][hapmap];0.87[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs387812	0.85[GIH][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs395601	0.81[AMR][1000 genomes]
rs411007	0.80[CEU][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs421829	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs442495	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs452698	0.81[AFR][1000 genomes]
rs474875	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4774310	1.00[CHB][hapmap]
rs4775087	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs4775094	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs507801	0.83[CHB][hapmap]
rs593742	0.89[GIH][hapmap]
rs596379	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs605928	0.92[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.82[MKK][hapmap]
rs610877	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs618684	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6494029	1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]
rs6494036	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap]
rs650366	0.82[EUR][1000 genomes]
rs653765	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.81[MKK][hapmap];0.82[ASN][1000 genomes]
rs673813	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs714696	1.00[CHB][hapmap];0.94[YRI][hapmap]
rs7161889	0.83[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap]
rs7183336	1.00[CHB][hapmap]
rs972801	0.92[CHB][hapmap];0.84[CHD][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer 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 target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs347115	ADAM10	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59064600-59085000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:59064600-59102800	Weak transcription	Lung	lung
3	chr15:59064600-59102800	Weak transcription	Pancreas	Pancrea
4	chr15:59064600-59103200	Weak transcription	Esophagus	oesophagus
5	chr15:59064600-59145600	Weak transcription	Gastric	stomach
6	chr15:59064800-59095400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:59065200-59117800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:59065800-59094600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:59065800-59095000	Weak transcription	Fetal Thymus	thymus
10	chr15:59065800-59102800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr15:59065800-59103200	Weak transcription	NH-A	brain
12	chr15:59065800-59142800	Weak transcription	Aorta	Aorta
13	chr15:59066000-59085200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:59066000-59095000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr15:59066000-59102400	Weak transcription	HSMM	muscle
16	chr15:59066200-59084200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:59066200-59095000	Weak transcription	Osteobl	bone
18	chr15:59066200-59095600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:59066400-59084200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:59066400-59085200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:59066400-59091000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:59066400-59095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:59066400-59095000	Weak transcription	Fetal Intestine Large	intestine
24	chr15:59066600-59102400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr15:59067000-59083600	Weak transcription	HMEC	breast
26	chr15:59067000-59094600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:59067000-59094800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr15:59067000-59102400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:59067000-59102800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:59067000-59102800	Weak transcription	NHDF-Ad	bronchial
31	chr15:59067000-59157800	Weak transcription	Hela-S3	cervix
32	chr15:59067200-59094800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr15:59067200-59095000	Weak transcription	Fetal Lung	lung
34	chr15:59067200-59103200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr15:59067400-59085400	Weak transcription	NHEK	skin
36	chr15:59067400-59102600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:59067400-59102800	Weak transcription	Brain Angular Gyrus	brain
38	chr15:59067400-59111400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr15:59067800-59094800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr15:59067800-59105000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr15:59068000-59086000	Weak transcription	Fetal Kidney	kidney
42	chr15:59068600-59085800	Weak transcription	HepG2	liver
43	chr15:59068600-59088000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:59068600-59090000	Weak transcription	Small Intestine	intestine
45	chr15:59068600-59094800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr15:59069400-59103600	Weak transcription	Brain Germinal Matrix	brain
47	chr15:59069600-59084400	Weak transcription	Primary B cells from cord blood	blood
48	chr15:59069600-59106000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr15:59069600-59119000	Weak transcription	Fetal Brain Male	brain
50	chr15:59069800-59084200	Weak transcription	Liver	Liver

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