Variant report

Variant	rs7176988
Chromosome Location	chr15:51786359-51786360
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:51785271..51787654-chr15:51788490..51790028,2	MCF-7	breast:
2	chr15:51781771..51784542-chr15:51785797..51788823,4	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10467923	0.81[ASN][1000 genomes]
rs11070850	0.90[EUR][1000 genomes]
rs11070852	0.94[ASN][1000 genomes]
rs11855041	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12592390	0.91[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12592422	0.92[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12908028	0.90[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17648128	0.87[CHB][hapmap]
rs17704742	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1869930	0.89[EUR][1000 genomes]
rs2258064	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2414104	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2414108	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2445746	0.91[CHB][hapmap]
rs2445751	0.91[CHB][hapmap]
rs2470192	0.95[CHB][hapmap]
rs2470194	0.96[CHB][hapmap]
rs2607111	0.89[EUR][1000 genomes]
rs2607113	0.87[EUR][1000 genomes]
rs28362471	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34604744	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4359386	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4436729	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4462536	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775945	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4775950	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4775967	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6493498	0.91[CHB][hapmap];0.91[ASN][1000 genomes]
rs6493502	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493504	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7164999	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8024233	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8025536	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8030113	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8030534	0.91[ASN][1000 genomes]
rs8034340	0.91[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs898135	0.91[CHB][hapmap]
rs930919	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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 miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv904217	chr15:51695653-51881980	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv904218	chr15:51743186-51873407	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7176988	DMXL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51763600-51826800	Weak transcription	Colonic Mucosa	Colon
2	chr15:51776600-51800000	Weak transcription	Esophagus	oesophagus
3	chr15:51776800-51787200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:51776800-51790200	Weak transcription	Lung	lung
5	chr15:51776800-51790800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:51776800-51793800	Weak transcription	Fetal Stomach	stomach
7	chr15:51776800-51797200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:51776800-51801600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr15:51776800-51815600	Weak transcription	Aorta	Aorta
10	chr15:51776800-51837600	Weak transcription	Fetal Thymus	thymus
11	chr15:51776800-51855200	Weak transcription	Thymus	Thymus
12	chr15:51777600-51819000	Weak transcription	Small Intestine	intestine
13	chr15:51777800-51786600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr15:51777800-51786600	Weak transcription	NHLF	lung
15	chr15:51777800-51786800	Weak transcription	Primary T cells from cord blood	blood
16	chr15:51777800-51787000	Weak transcription	HMEC	breast
17	chr15:51777800-51790200	Weak transcription	Fetal Brain Male	brain
18	chr15:51777800-51792200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr15:51777800-51795200	Weak transcription	Spleen	Spleen
20	chr15:51777800-51799600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:51778200-51811200	Weak transcription	NHDF-Ad	bronchial
22	chr15:51778400-51790200	Weak transcription	Left Ventricle	heart
23	chr15:51778400-51790600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:51778400-51794400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:51778400-51825800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:51778600-51790200	Weak transcription	HSMMtube	muscle
27	chr15:51778600-51790800	Weak transcription	Fetal Heart	heart
28	chr15:51778600-51791000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:51778600-51791200	Weak transcription	Brain Substantia Nigra	brain
30	chr15:51778600-51792200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr15:51778600-51798200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:51778600-51801400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr15:51778800-51813400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr15:51779200-51799000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr15:51780000-51798200	Weak transcription	Fetal Intestine Small	intestine
36	chr15:51780200-51786400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr15:51780200-51791000	Weak transcription	Colon Smooth Muscle	Colon
38	chr15:51780400-51817600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:51780400-51855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:51780600-51791200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr15:51780800-51786800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:51780800-51787000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr15:51780800-51791000	Weak transcription	Fetal Brain Female	brain
44	chr15:51780800-51791000	Weak transcription	Fetal Muscle Leg	muscle
45	chr15:51780800-51791800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:51780800-51799600	Weak transcription	GM12878-XiMat	blood
47	chr15:51780800-51839000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:51781000-51790800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr15:51781200-51790200	Weak transcription	Adipose Nuclei	Adipose
50	chr15:51781200-51794600	Weak transcription	Placenta	Placenta

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