Variant report

Variant	rs6453080
Chromosome Location	chr5:70951233-70951234
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:70950186..70952876-chr5:70957958..70960440,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10058683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10064079	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065732	0.80[EUR][1000 genomes]
rs10805891	0.88[EUR][1000 genomes]
rs1135667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391180	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242372	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6875115	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888301	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7731970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv532805	chr5:70916228-71020967	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6453080	MCCC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70898400-70955000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:70906600-70952400	Weak transcription	Stomach Mucosa	stomach
3	chr5:70919800-70955000	Weak transcription	HUVEC	blood vessel
4	chr5:70926600-70954000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:70927000-70954000	Strong transcription	Dnd41	blood
6	chr5:70927000-70954200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:70930400-70952600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:70931400-70953600	Weak transcription	HSMM	muscle
9	chr5:70934800-70953800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:70935000-70955800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:70936600-70955200	Weak transcription	Fetal Heart	heart
12	chr5:70938400-70954000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:70940800-70954600	Strong transcription	Liver	Liver
14	chr5:70941000-70951400	Strong transcription	Fetal Intestine Large	intestine
15	chr5:70941200-70955000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:70941400-70954200	Strong transcription	Placenta	Placenta
17	chr5:70941400-70954400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr5:70941400-70954400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:70941400-70954600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:70941400-70954600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:70941600-70954400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr5:70941600-70954600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:70942000-70951600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:70942000-70954400	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr5:70942000-70954400	Strong transcription	Adipose Nuclei	Adipose
26	chr5:70942000-70954400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:70942200-70953800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:70942200-70954000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:70942200-70954200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr5:70943200-70955600	Weak transcription	Psoas Muscle	Psoas
31	chr5:70943400-70954400	Weak transcription	Colonic Mucosa	Colon
32	chr5:70943800-70954200	Strong transcription	Ovary	ovary
33	chr5:70944000-70952800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:70944000-70954200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:70944800-70951400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:70944800-70952800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr5:70944800-70954200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr5:70945600-70955600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:70946000-70952800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr5:70946000-70954400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:70946000-70955800	Weak transcription	Osteobl	bone
42	chr5:70946200-70953400	Weak transcription	Aorta	Aorta
43	chr5:70946200-70953600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:70946200-70955200	Weak transcription	Right Ventricle	heart
45	chr5:70946200-70956200	Weak transcription	NH-A	brain
46	chr5:70946200-70956400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:70947200-70951600	Strong transcription	GM12878-XiMat	blood
48	chr5:70947400-70953600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:70947400-70955600	Weak transcription	NHDF-Ad	bronchial
50	chr5:70947600-70953000	Weak transcription	Brain Inferior Temporal Lobe	brain

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