Variant report

Variant	rs16931447
Chromosome Location	chr12:4560028-4560029
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12818485	1.00[ASN][1000 genomes]
rs12831479	1.00[ASN][1000 genomes]
rs2909376	1.00[ASN][1000 genomes]
rs2970831	1.00[ASN][1000 genomes]
rs2970832	1.00[ASN][1000 genomes]
rs2970833	1.00[ASN][1000 genomes]
rs35711623	1.00[ASN][1000 genomes]
rs35924298	1.00[ASN][1000 genomes]
rs71459907	1.00[ASN][1000 genomes]
rs71459908	1.00[ASN][1000 genomes]
rs71459911	1.00[ASN][1000 genomes]
rs7296957	1.00[ASN][1000 genomes]
rs7302664	1.00[ASN][1000 genomes]
rs7955370	1.00[ASN][1000 genomes]
rs7962626	1.00[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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4555000-4561200	Enhancers	Fetal Muscle Leg	muscle
2	chr12:4556400-4560200	Enhancers	Fetal Brain Male	brain
3	chr12:4558000-4561400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr12:4558200-4561200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:4558200-4561400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:4558600-4560800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:4558600-4562000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:4558800-4560400	Enhancers	HMEC	breast
9	chr12:4558800-4561600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:4559000-4560200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:4559000-4560200	Enhancers	Fetal Muscle Trunk	muscle
12	chr12:4559000-4560200	Enhancers	Fetal Thymus	thymus
13	chr12:4559000-4560400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:4559000-4560600	Enhancers	Right Atrium	heart
15	chr12:4559000-4561200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:4559000-4561400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:4559200-4560200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:4559200-4560200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:4559200-4560400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr12:4559200-4560600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:4559200-4560800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:4559400-4560600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:4559400-4560600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:4559400-4561400	Enhancers	HSMMtube	muscle
25	chr12:4559600-4560200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:4559600-4560200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr12:4559600-4560400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:4559600-4560400	Weak transcription	Psoas Muscle	Psoas
29	chr12:4559600-4560600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:4559600-4560600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr12:4559600-4560600	Enhancers	HSMM	muscle
32	chr12:4559800-4560200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr12:4559800-4560200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:4559800-4560200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:4559800-4560200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr12:4559800-4560200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:4559800-4560200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:4559800-4560400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr12:4559800-4560400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr12:4559800-4560600	Enhancers	Brain Hippocampus Middle	brain
41	chr12:4560000-4560200	Enhancers	Skeletal Muscle Female	skeletal muscle

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