Variant report

Variant	rs1793959
Chromosome Location	chr12:48390080-48390081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48384703..48387276-chr12:48389834..48391406,2	K562	blood:
2	chr12:48346353..48348105-chr12:48388384..48390746,2	MCF-7	breast:
3	chr12:48387141..48389064-chr12:48389409..48391360,2	MCF-7	breast:
4	chr12:48389851..48391861-chr12:48407332..48409151,2	MCF-7	breast:
5	chr12:48389997..48392047-chr12:48397447..48399843,2	K562	blood:
6	chr12:48375884..48381022-chr12:48386743..48391938,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139219	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1635554	0.91[CEU][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1635557	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17122571	0.83[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4760607	0.91[CEU][hapmap];1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1793959	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48376800-48391000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:48382800-48394600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:48383800-48393800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:48383800-48394400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:48385200-48391600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:48386800-48392800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:48387000-48391600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:48387600-48390200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:48388000-48391400	Enhancers	Fetal Brain Male	brain
10	chr12:48388600-48390400	Enhancers	Brain Germinal Matrix	brain
11	chr12:48388800-48390200	Strong transcription	Fetal Intestine Small	intestine
12	chr12:48389000-48390600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:48389000-48390600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr12:48389200-48390400	Bivalent Enhancer	Fetal Stomach	stomach
15	chr12:48389200-48390400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr12:48389200-48391000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:48389400-48390400	Enhancers	Brain Anterior Caudate	brain
18	chr12:48389400-48390600	Enhancers	Fetal Brain Female	brain
19	chr12:48389400-48390600	Enhancers	Fetal Lung	lung
20	chr12:48389400-48390600	Enhancers	Fetal Muscle Leg	muscle
21	chr12:48389400-48390600	Enhancers	HSMMtube	muscle
22	chr12:48389400-48391000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:48389600-48390200	Enhancers	Adipose Nuclei	Adipose
24	chr12:48389600-48390200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
25	chr12:48389600-48390200	Enhancers	Placenta	Placenta
26	chr12:48389600-48390400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:48389600-48390400	Bivalent Enhancer	Brain Angular Gyrus	brain
28	chr12:48389600-48390400	Bivalent Enhancer	Brain Hippocampus Middle	brain
29	chr12:48389600-48390400	Enhancers	Fetal Muscle Trunk	muscle
30	chr12:48389600-48390400	Enhancers	Gastric	stomach
31	chr12:48389600-48390400	Enhancers	Left Ventricle	heart
32	chr12:48389600-48390400	Enhancers	Ovary	ovary
33	chr12:48389600-48390400	Enhancers	Right Ventricle	heart
34	chr12:48389800-48390400	Enhancers	Brain Substantia Nigra	brain
35	chr12:48389800-48391200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:48389800-48391800	Enhancers	Liver	Liver
37	chr12:48390000-48390200	Bivalent Enhancer	NH-A	brain
38	chr12:48390000-48390400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr12:48390000-48390400	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr12:48390000-48395000	Weak transcription	Right Atrium	heart

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