Variant report

Variant	rs12372076
Chromosome Location	chr12:56238038-56238039
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56209321..56212347-chr12:56235221..56238369,3	K562	blood:
2	chr12:56220285..56224153-chr12:56233677..56238372,4	K562	blood:
3	chr12:56237364..56240273-chr12:56321044..56322840,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMP19-2	chr12:56237801-56238087	NONHSAT028709

Variant related genes	Relation type
ENSG00000170473	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000123353	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10876851	0.84[CHB][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10876852	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10876854	0.93[ASN][1000 genomes]
rs11171681	0.83[CHB][hapmap]
rs11829536	0.81[JPT][hapmap]
rs1681087	0.88[ASN][1000 genomes]
rs2291267	0.82[CEU][hapmap]
rs2291268	1.00[CEU][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2887998	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs7305787	0.92[CHB][hapmap];0.90[JPT][hapmap];0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs772262	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs7954619	0.92[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7954839	0.92[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7965333	0.84[CHB][hapmap];0.91[JPT][hapmap];0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56225800-56244000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:56226800-56241400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:56227600-56241200	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:56229000-56240800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:56230400-56241000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:56232400-56241000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:56233600-56241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:56233600-56242400	Weak transcription	Spleen	Spleen
9	chr12:56236600-56241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:56236800-56239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:56236800-56239200	Weak transcription	Esophagus	oesophagus
12	chr12:56236800-56240800	Weak transcription	Left Ventricle	heart
13	chr12:56236800-56241000	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:56236800-56241200	Weak transcription	Gastric	stomach
15	chr12:56236800-56241400	Weak transcription	Aorta	Aorta
16	chr12:56236800-56242400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:56236800-56242400	Weak transcription	Right Ventricle	heart
18	chr12:56236800-56242600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:56237000-56239400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:56237000-56240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:56237000-56240800	Weak transcription	A549	lung
22	chr12:56237000-56241000	Weak transcription	Ovary	ovary
23	chr12:56237000-56241400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:56237000-56241400	Weak transcription	Fetal Lung	lung
25	chr12:56237200-56238800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:56237200-56239000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:56237200-56239000	Weak transcription	NHDF-Ad	bronchial
28	chr12:56237200-56239200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:56237200-56239200	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:56237200-56239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:56237200-56240000	Weak transcription	Right Atrium	heart
32	chr12:56237200-56240800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:56237200-56240800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:56237200-56240800	Weak transcription	Lung	lung
35	chr12:56237200-56240800	Weak transcription	HMEC	breast
36	chr12:56237200-56240800	Weak transcription	HSMMtube	muscle
37	chr12:56237200-56240800	Weak transcription	HUVEC	blood vessel
38	chr12:56237200-56241000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:56237200-56241200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:56237200-56241200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:56237200-56241400	Weak transcription	Hela-S3	cervix
42	chr12:56237200-56241600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:56237200-56241600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:56237200-56244000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:56237400-56238800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:56237400-56238800	Weak transcription	Adipose Nuclei	Adipose
47	chr12:56237400-56239000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:56237400-56239000	Weak transcription	K562	blood
49	chr12:56237400-56239000	Weak transcription	Osteobl	bone
50	chr12:56237400-56239200	Weak transcription	H1 Cell Line	embryonic stem cell

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