Variant report

Variant	rs1485424
Chromosome Location	chr12:30298046-30298047
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11050678	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11050679	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11050680	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11050681	0.90[ASN][1000 genomes]
rs11050684	1.00[ASN][1000 genomes]
rs11050693	0.96[ASN][1000 genomes]
rs16935493	0.96[ASN][1000 genomes]
rs16935496	0.96[ASN][1000 genomes]
rs7134468	0.82[ASN][1000 genomes]
rs74080585	0.92[ASN][1000 genomes]
rs8181733	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1050757	chr12:30288879-30329142	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1035561	chr12:30288879-30336486	Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30297200-30299200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:30297200-30299200	Enhancers	HSMM	muscle
3	chr12:30297400-30298600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:30297400-30299200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:30297400-30299400	Enhancers	NHDF-Ad	bronchial
6	chr12:30297600-30298400	Enhancers	Fetal Brain Female	brain
7	chr12:30297600-30298800	Enhancers	Brain Germinal Matrix	brain
8	chr12:30297600-30299200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:30297600-30299200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:30297600-30299200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:30297600-30300600	Enhancers	HSMMtube	muscle
12	chr12:30297800-30298400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:30297800-30298600	Enhancers	Brain Substantia Nigra	brain
14	chr12:30297800-30298800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:30297800-30299200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:30298000-30298400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr12:30298000-30299200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:30298000-30299400	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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