Variant report

Variant	rs60924244
Chromosome Location	chr12:41907865-41907866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41903994..41905628-chr12:41905672..41908634,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11837703	1.00[AMR][1000 genomes]
rs17129517	1.00[AMR][1000 genomes]
rs1874363	1.00[AMR][1000 genomes]
rs58151842	1.00[AMR][1000 genomes]
rs58224407	1.00[AMR][1000 genomes]
rs60032867	1.00[AMR][1000 genomes]
rs61008321	1.00[AMR][1000 genomes]
rs61288248	1.00[AMR][1000 genomes]
rs73280133	1.00[AMR][1000 genomes]
rs73284160	1.00[AMR][1000 genomes]
rs73284198	1.00[AMR][1000 genomes]
rs7977542	1.00[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	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
3	nsv826349	chr12:41878846-41911495	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	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	chr12:41898600-41915400	Weak transcription	Aorta	Aorta
2	chr12:41902000-41909400	Enhancers	Brain Germinal Matrix	brain
3	chr12:41902200-41908000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:41902400-41915000	Weak transcription	Brain Anterior Caudate	brain
5	chr12:41904400-41908800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:41904600-41915600	Weak transcription	Fetal Kidney	kidney
7	chr12:41905000-41908000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:41905200-41916400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:41906800-41909000	Enhancers	Fetal Brain Female	brain
10	chr12:41907200-41909000	Enhancers	Fetal Brain Male	brain
11	chr12:41907400-41908000	Enhancers	Stomach Smooth Muscle	stomach
12	chr12:41907400-41908200	Enhancers	Brain Angular Gyrus	brain
13	chr12:41907400-41908200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr12:41907400-41908400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:41907400-41908600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:41907600-41908000	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:41907600-41908000	Enhancers	Brain Hippocampus Middle	brain
18	chr12:41907600-41908400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:41907600-41908400	Enhancers	Fetal Lung	lung
20	chr12:41907600-41908600	Enhancers	Brain Substantia Nigra	brain
21	chr12:41907600-41908600	Enhancers	Fetal Heart	heart
22	chr12:41907800-41908200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:41907800-41908600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:41907800-41908800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:41907800-41915400	Weak transcription	Fetal Stomach	stomach

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