Variant report

Variant	rs17091083
Chromosome Location	chr12:42733194-42733195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42730865..42733403-chr12:42735896..42737550,2	MCF-7	breast:
2	chr12:42720413..42722226-chr12:42732799..42734474,2	K562	blood:
3	chr12:42732890..42734850-chr12:42739136..42741530,2	MCF-7	breast:
4	chr12:42725434..42728345-chr12:42731644..42734670,3	K562	blood:
5	chr12:42718161..42719676-chr12:42732826..42735743,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134283	Chromatin interaction
ENSG00000252917	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10160853	0.83[ASN][1000 genomes]
rs1037401	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10506175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11181360	0.83[ASN][1000 genomes]
rs11181373	0.83[ASN][1000 genomes]
rs1139095	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830387	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832838	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12300188	0.85[ASN][1000 genomes]
rs12312515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12315471	0.83[ASN][1000 genomes]
rs12317772	0.83[ASN][1000 genomes]
rs12318401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1669923	1.00[CEU][hapmap]
rs17091040	1.00[JPT][hapmap]
rs17091061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17091078	1.00[JPT][hapmap]
rs17091094	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091110	1.00[JPT][hapmap]
rs17091117	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17091138	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091220	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17091226	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17121217	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1962526	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1987127	0.88[ASN][1000 genomes]
rs2305423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406676	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747559	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3810787	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs3911246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57447201	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57653125	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58594062	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59402225	0.95[EUR][1000 genomes]
rs59423833	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59501472	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60092940	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60287587	0.83[ASN][1000 genomes]
rs60598518	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60659836	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67128387	0.83[EUR][1000 genomes]
rs73114487	0.83[ASN][1000 genomes]
rs73116432	0.88[ASN][1000 genomes]
rs73116492	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73118486	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118500	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120410	0.95[EUR][1000 genomes]
rs73120468	0.95[EUR][1000 genomes]
rs73120476	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120499	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124495	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126404	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126407	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126412	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126433	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73126453	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73127418	0.83[ASN][1000 genomes]
rs73127428	0.81[ASN][1000 genomes]
rs73131138	0.83[ASN][1000 genomes]
rs7961228	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17091083	ZCRB1	cis	multi-tissue	Pritchard

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42721000-42758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:42721600-42736600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:42721600-42739200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:42721600-42743000	Weak transcription	Esophagus	oesophagus
6	chr12:42721600-42747600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:42721600-42748600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:42721600-42750000	Weak transcription	Aorta	Aorta
9	chr12:42721600-42750600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:42721600-42751800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:42721600-42769000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:42721600-42778600	Weak transcription	Spleen	Spleen
13	chr12:42721600-42800800	Weak transcription	Psoas Muscle	Psoas
14	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:42721800-42740200	Weak transcription	HSMMtube	muscle
16	chr12:42721800-42745400	Weak transcription	Fetal Brain Male	brain
17	chr12:42721800-42750200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:42721800-42756200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:42721800-42769600	Weak transcription	Brain Substantia Nigra	brain
20	chr12:42721800-42769800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:42721800-42797000	Weak transcription	NHLF	lung
22	chr12:42721800-42803600	Weak transcription	Gastric	stomach
23	chr12:42722000-42737600	Weak transcription	NHDF-Ad	bronchial
24	chr12:42722000-42769600	Weak transcription	Brain Anterior Caudate	brain
25	chr12:42722000-42769600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:42722000-42772600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:42722000-42793200	Weak transcription	Fetal Kidney	kidney
28	chr12:42722200-42749800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:42722200-42750200	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:42722200-42752800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:42722200-42769200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:42722400-42744600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:42724400-42742200	Weak transcription	Brain Angular Gyrus	brain
34	chr12:42724400-42755400	Weak transcription	Pancreas	Pancrea
35	chr12:42726000-42733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:42726000-42740200	Weak transcription	Fetal Heart	heart
37	chr12:42726200-42749400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:42727800-42736600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:42727800-42736800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:42729000-42742200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:42729400-42733200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:42729600-42736200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:42729600-42736400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:42729600-42738200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:42729600-42738200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:42729800-42733400	Strong transcription	Hela-S3	cervix
47	chr12:42730000-42733200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:42730000-42733400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:42730000-42733600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr12:42730000-42734200	Strong transcription	Primary B cells from cord blood	blood

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