Variant report

Variant	rs2160994
Chromosome Location	chr12:50650057-50650058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50642230..50643787-chr12:50648428..50651289,2	MCF-7	breast:
2	chr12:50477178..50480105-chr12:50648113..50650406,2	K562	blood:
3	chr12:50643519..50647012-chr12:50649051..50651928,4	K562	blood:

Variant related genes	Relation type
ENSG00000066117	Chromatin interaction
ENSG00000050405	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10747573	0.81[CEU][hapmap]
rs10783342	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs4459386	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs7957659	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs7967954	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs8181679	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs9669354	0.86[ASN][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	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2160994	CERS5	cis	Nerve Tibial	GTEx
rs2160994	LASS5	cis	multi-tissue	Pritchard

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50616800-50651800	Weak transcription	Brain Anterior Caudate	brain
2	chr12:50633200-50651200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:50636200-50651200	Weak transcription	Fetal Kidney	kidney
4	chr12:50636600-50651400	Weak transcription	Gastric	stomach
5	chr12:50636600-50651800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:50639000-50651600	Weak transcription	Fetal Lung	lung
7	chr12:50640400-50651200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:50641000-50662000	Weak transcription	Brain Germinal Matrix	brain
9	chr12:50641200-50653200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:50641400-50659600	Weak transcription	Esophagus	oesophagus
11	chr12:50641800-50651200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:50641800-50651200	Weak transcription	Left Ventricle	heart
13	chr12:50641800-50651200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:50641800-50651800	Weak transcription	Fetal Stomach	stomach
15	chr12:50641800-50651800	Weak transcription	Right Ventricle	heart
16	chr12:50641800-50652000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:50642600-50651200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:50642600-50652000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:50642800-50651200	Weak transcription	Brain Angular Gyrus	brain
20	chr12:50643000-50651000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:50643000-50651200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:50643200-50651000	Weak transcription	Adipose Nuclei	Adipose
23	chr12:50643800-50651000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:50643800-50651200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:50643800-50651400	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:50644000-50651000	Weak transcription	Psoas Muscle	Psoas
27	chr12:50644000-50651000	Weak transcription	Right Atrium	heart
28	chr12:50644000-50651200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:50644000-50652000	Weak transcription	Ovary	ovary
30	chr12:50646000-50650400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:50646000-50650800	Weak transcription	HSMM	muscle
32	chr12:50646000-50651000	Weak transcription	HSMMtube	muscle
33	chr12:50646000-50651200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:50646000-50651200	Weak transcription	Osteobl	bone
35	chr12:50646000-50651400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:50646000-50651400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:50646200-50651000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:50646200-50651000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:50648000-50651200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr12:50648200-50651000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:50648400-50651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:50648400-50651400	Weak transcription	NHLF	lung
43	chr12:50648400-50651800	Weak transcription	NH-A	brain
44	chr12:50648600-50651000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:50648600-50651800	Weak transcription	Spleen	Spleen
46	chr12:50648800-50651000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:50648800-50668000	Weak transcription	Lung	lung
48	chr12:50649000-50651600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:50649000-50651800	Enhancers	Hela-S3	cervix
50	chr12:50649200-50650200	Weak transcription	A549	lung

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