Variant report

Variant	rs34573394
Chromosome Location	chr12:50556475-50556476
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50551631..50557676-chr12:50558333..50562130,9	MCF-7	breast:
2	chr12:50554586..50557415-chr12:50565776..50567790,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139624	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1044370	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10747570	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169294	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169300	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11831413	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426261	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12815871	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12824125	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12830386	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862043	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2178173	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2358538	0.83[ASN][1000 genomes]
rs35549836	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35998534	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883481	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4883482	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56709084	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580729	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66768395	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7136570	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7279	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7294548	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297421	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7301566	0.83[ASN][1000 genomes]
rs7301649	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301740	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7302981	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308356	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7967705	0.85[EUR][1000 genomes]
rs7967844	0.87[EUR][1000 genomes]
rs7972842	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs836172	0.80[ASN][1000 genomes]
rs836179	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs836180	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34573394	CERS5	cis	Nerve Tibial	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50524000-50559800	Weak transcription	Right Atrium	heart
2	chr12:50529800-50559800	Weak transcription	NHLF	lung
3	chr12:50530000-50559600	Weak transcription	A549	lung
4	chr12:50530000-50560200	Weak transcription	Esophagus	oesophagus
5	chr12:50531600-50558200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:50531800-50558400	Weak transcription	Fetal Brain Male	brain
7	chr12:50532000-50560200	Weak transcription	Aorta	Aorta
8	chr12:50532000-50560200	Weak transcription	Gastric	stomach
9	chr12:50532400-50559800	Weak transcription	Spleen	Spleen
10	chr12:50533200-50559400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:50534400-50560200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:50535200-50560000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:50535200-50560200	Weak transcription	Right Ventricle	heart
14	chr12:50535400-50559400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:50535400-50560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:50536400-50560200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:50537200-50558200	Weak transcription	Fetal Brain Female	brain
18	chr12:50537200-50559200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:50537400-50559400	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:50537400-50560200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:50537600-50559400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:50537600-50559400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:50537800-50558200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:50537800-50558400	Weak transcription	Placenta	Placenta
25	chr12:50537800-50559200	Weak transcription	GM12878-XiMat	blood
26	chr12:50537800-50559400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:50537800-50559400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:50537800-50559400	Weak transcription	Fetal Lung	lung
29	chr12:50537800-50559800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:50537800-50559800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:50537800-50560200	Weak transcription	Left Ventricle	heart
32	chr12:50538200-50558200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:50538200-50559400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:50538200-50559800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:50538200-50559800	Weak transcription	Fetal Thymus	thymus
36	chr12:50538400-50556800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr12:50538400-50558200	Weak transcription	Dnd41	blood
38	chr12:50538400-50559400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:50538400-50559400	Weak transcription	HSMM	muscle
40	chr12:50538400-50559400	Weak transcription	HSMMtube	muscle
41	chr12:50538400-50559800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:50540200-50559400	Weak transcription	Fetal Heart	heart
43	chr12:50542200-50559800	Weak transcription	Lung	lung
44	chr12:50543400-50559400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:50543400-50559600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:50545200-50560000	Weak transcription	Fetal Kidney	kidney
47	chr12:50545600-50558200	Weak transcription	HMEC	breast
48	chr12:50545600-50558600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:50546000-50559400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:50548000-50559200	Weak transcription	Thymus	Thymus

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