Variant report

Variant	rs6453021
Chromosome Location	chr5:70851532-70851533
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6452796	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7378819	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711253	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7721025	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	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
5	nsv882177	chr5:70800538-70856378	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv882178	chr5:70806958-70856378	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv882179	chr5:70807073-70856378	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6453021	MCCC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70778400-70869600	Weak transcription	Stomach Mucosa	stomach
2	chr5:70820200-70857400	Weak transcription	Small Intestine	intestine
3	chr5:70825200-70859600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:70825800-70869200	Weak transcription	Fetal Heart	heart
5	chr5:70827600-70864400	Strong transcription	Liver	Liver
6	chr5:70831400-70864600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:70834000-70871800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:70834200-70862800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:70837800-70861800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:70838000-70859400	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr5:70839400-70870000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:70841400-70860800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:70846000-70853600	Weak transcription	Fetal Brain Male	brain
14	chr5:70846000-70863800	Weak transcription	Esophagus	oesophagus
15	chr5:70846000-70872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:70846200-70852800	Weak transcription	Brain Substantia Nigra	brain
17	chr5:70846200-70853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:70846200-70856600	Weak transcription	Aorta	Aorta
19	chr5:70846200-70866200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:70846200-70867600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:70846400-70851800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:70846800-70853800	Weak transcription	Brain Anterior Caudate	brain
23	chr5:70846800-70855800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:70846800-70857200	Weak transcription	Spleen	Spleen
25	chr5:70846800-70858200	Weak transcription	Right Ventricle	heart
26	chr5:70847000-70852800	Weak transcription	Lung	lung
27	chr5:70847200-70864200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:70847400-70852800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:70847400-70864600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:70847600-70852800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:70847600-70853000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:70847600-70853000	Weak transcription	Gastric	stomach
33	chr5:70847600-70854200	Weak transcription	Ovary	ovary
34	chr5:70847600-70854600	Weak transcription	Pancreas	Pancrea
35	chr5:70847600-70869800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr5:70847800-70853000	Weak transcription	Fetal Stomach	stomach
37	chr5:70848000-70853000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:70848000-70859800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:70848200-70862400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:70848400-70859200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:70848400-70859600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:70848400-70861600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:70848400-70864800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:70848600-70859200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr5:70848600-70859200	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:70848600-70859400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:70848600-70859600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:70848600-70861600	Strong transcription	Adipose Nuclei	Adipose
49	chr5:70848600-70861800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:70848600-70865000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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