Variant report

Variant	rs17091078
Chromosome Location	chr12:42729642-42729643
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42536665..42538849-chr12:42728073..42730688,2	K562	blood:
2	chr12:42724724..42726418-chr12:42728788..42731696,2	K562	blood:
3	chr12:42718689..42722040-chr12:42727245..42730818,3	K562	blood:

Variant related genes	Relation type
ENSG00000151233	Chromatin interaction
ENSG00000134283	Chromatin interaction
ENSG00000139168	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1037401	0.85[CHD][hapmap]
rs17091040	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs17091083	1.00[JPT][hapmap]
rs17091110	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs17091127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17091132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34837068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58990065	0.81[AFR][1000 genomes];0.80[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
rs17091078	ZCRB1	cis	lymphoblastoid	seeQTL

Chromatin state (count:120 , 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	chr12:42721000-42730000	Weak transcription	Placenta	Placenta
3	chr12:42721000-42730800	Weak transcription	Lung	lung
4	chr12:42721000-42731400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:42721000-42758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:42721200-42730200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:42721200-42732800	Weak transcription	Colonic Mucosa	Colon
8	chr12:42721600-42730000	Weak transcription	Adipose Nuclei	Adipose
9	chr12:42721600-42730200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:42721600-42730200	Weak transcription	Ovary	ovary
11	chr12:42721600-42730800	Weak transcription	Fetal Intestine Small	intestine
12	chr12:42721600-42736600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:42721600-42739200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:42721600-42743000	Weak transcription	Esophagus	oesophagus
15	chr12:42721600-42747600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:42721600-42748600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:42721600-42750000	Weak transcription	Aorta	Aorta
18	chr12:42721600-42750600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:42721600-42751800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:42721600-42769000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:42721600-42778600	Weak transcription	Spleen	Spleen
22	chr12:42721600-42800800	Weak transcription	Psoas Muscle	Psoas
23	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:42721800-42730000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:42721800-42730000	Weak transcription	HUVEC	blood vessel
26	chr12:42721800-42730200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:42721800-42730200	Weak transcription	Fetal Intestine Large	intestine
28	chr12:42721800-42730200	Weak transcription	Fetal Lung	lung
29	chr12:42721800-42730200	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:42721800-42730200	Weak transcription	Left Ventricle	heart
31	chr12:42721800-42730200	Weak transcription	NH-A	brain
32	chr12:42721800-42730800	Weak transcription	Fetal Stomach	stomach
33	chr12:42721800-42731800	Weak transcription	Thymus	Thymus
34	chr12:42721800-42740200	Weak transcription	HSMMtube	muscle
35	chr12:42721800-42745400	Weak transcription	Fetal Brain Male	brain
36	chr12:42721800-42750200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:42721800-42756200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:42721800-42769600	Weak transcription	Brain Substantia Nigra	brain
39	chr12:42721800-42769800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:42721800-42797000	Weak transcription	NHLF	lung
41	chr12:42721800-42803600	Weak transcription	Gastric	stomach
42	chr12:42722000-42737600	Weak transcription	NHDF-Ad	bronchial
43	chr12:42722000-42769600	Weak transcription	Brain Anterior Caudate	brain
44	chr12:42722000-42769600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:42722000-42772600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:42722000-42793200	Weak transcription	Fetal Kidney	kidney
47	chr12:42722200-42730000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:42722200-42730000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr12:42722200-42730000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:42722200-42730200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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