Variant report

Variant	rs1379778
Chromosome Location	chr12:41860997-41860998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10161143	0.81[AMR][1000 genomes]
rs12307517	0.81[AMR][1000 genomes]
rs1350433	0.81[AMR][1000 genomes]
rs17129351	0.83[AMR][1000 genomes]
rs17129364	0.84[AMR][1000 genomes]
rs17129405	0.83[AMR][1000 genomes]
rs17129413	0.84[AMR][1000 genomes]
rs2405924	0.85[AMR][1000 genomes]
rs2897270	0.81[AMR][1000 genomes]
rs3761676	0.83[AMR][1000 genomes]
rs58573939	0.81[AMR][1000 genomes]
rs59662716	0.81[AMR][1000 genomes]
rs60903037	0.83[AMR][1000 genomes]
rs74077585	0.81[AMR][1000 genomes]
rs74077591	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3501985	chr12:41847710-41863530	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
3	esv3501996	chr12:41847724-41863526	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
4	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41855000-41861000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:41858400-41863000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:41859000-41862000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:41859400-41861400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:41859400-41862200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:41859800-41861000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:41859800-41861000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:41859800-41862000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:41859800-41862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:41859800-41862200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:41860000-41861400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr12:41860000-41861400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:41860000-41862200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:41860200-41861000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:41860200-41861800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:41860200-41869200	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:41860400-41861000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:41860400-41861400	Weak transcription	Brain Germinal Matrix	brain
19	chr12:41860400-41861600	Weak transcription	Fetal Lung	lung
20	chr12:41860600-41861000	ZNF genes & repeats	Aorta	Aorta
21	chr12:41860600-41861000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr12:41860800-41861000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:41860800-41861000	Active TSS	Brain Hippocampus Middle	brain
24	chr12:41860800-41861000	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr12:41860800-41861600	Enhancers	H9 Cell Line	embryonic stem cell

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