Variant report

Variant	rs62384693
Chromosome Location	chr5:115433481-115433482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115423355..115429096-chr5:115429659..115434037,6	K562	blood:
2	chr5:115431884..115434416-chr5:115451435..115454225,2	K562	blood:

Variant related genes	Relation type
ENSG00000145781	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10051697	0.88[ASN][1000 genomes]
rs10055868	0.88[ASN][1000 genomes]
rs10062350	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10066259	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069656	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10478276	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10478277	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478278	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478281	0.88[ASN][1000 genomes]
rs11241356	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514600	0.88[ASN][1000 genomes]
rs12514785	0.88[ASN][1000 genomes]
rs12515308	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516100	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12517508	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520076	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521815	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357258	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1581024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138884	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17138907	0.88[ASN][1000 genomes]
rs17138917	0.88[ASN][1000 genomes]
rs1876673	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876674	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292266	0.88[AMR][1000 genomes]
rs28661323	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28839012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532392	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62383956	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62383957	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384678	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384691	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384692	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384695	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384699	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384700	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384714	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384716	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62385177	0.88[ASN][1000 genomes]
rs62385178	0.88[ASN][1000 genomes]
rs62385179	0.88[ASN][1000 genomes]
rs62385215	0.88[ASN][1000 genomes]
rs6863132	0.88[AMR][1000 genomes]
rs6880213	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326989	0.88[ASN][1000 genomes]
rs9326990	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1027418	chr5:115206256-115446861	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1027117	chr5:115222974-115442883	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv2763487	chr5:115222986-115442895	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1030480	chr5:115228889-115446861	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv599479	chr5:115233116-115450969	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1015976	chr5:115236239-115434163	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv537868	chr5:115236239-115434163	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv882736	chr5:115254723-115552945	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv882737	chr5:115263853-115552945	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv527320	chr5:115382097-115573543	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv1027266	chr5:115382704-115501792	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv1032199	chr5:115384131-115525738	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	esv2830404	chr5:115386661-115490546	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv1019972	chr5:115386860-115563533	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	nsv537869	chr5:115386860-115563533	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv1018861	chr5:115397834-115563533	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv537870	chr5:115397834-115563533	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62384693	COMMD10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115421400-115444200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:115421400-115446400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:115421400-115446400	Weak transcription	Esophagus	oesophagus
4	chr5:115421600-115436600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:115421800-115448000	Weak transcription	Aorta	Aorta
6	chr5:115422000-115433600	Weak transcription	Stomach Mucosa	stomach
7	chr5:115422400-115437400	Weak transcription	Spleen	Spleen
8	chr5:115422800-115444200	Weak transcription	Pancreas	Pancrea
9	chr5:115423200-115435000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr5:115423800-115437000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:115424000-115434600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr5:115424000-115436400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:115424000-115436600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:115424000-115437000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:115424200-115435200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:115424200-115437000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr5:115424400-115435400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:115424400-115438800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:115425800-115438400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr5:115426200-115436800	Weak transcription	NHEK	skin
21	chr5:115426600-115433800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:115426800-115436000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:115427600-115434200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:115428000-115434800	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:115428000-115435400	Strong transcription	Adipose Nuclei	Adipose
26	chr5:115428200-115435400	Strong transcription	Liver	Liver
27	chr5:115429200-115435200	Weak transcription	Hela-S3	cervix
28	chr5:115429200-115435600	Weak transcription	NH-A	brain
29	chr5:115429400-115435000	Weak transcription	NHLF	lung
30	chr5:115429400-115435200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:115429400-115435800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:115429400-115443600	Weak transcription	Fetal Stomach	stomach
33	chr5:115429400-115443600	Weak transcription	Thymus	Thymus
34	chr5:115429400-115444000	Weak transcription	Gastric	stomach
35	chr5:115429400-115448200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:115429400-115448200	Weak transcription	Right Ventricle	heart
37	chr5:115429400-115449000	Weak transcription	Colonic Mucosa	Colon
38	chr5:115429600-115440200	Weak transcription	Brain Germinal Matrix	brain
39	chr5:115429600-115441400	Weak transcription	Fetal Kidney	kidney
40	chr5:115429600-115443800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:115429600-115448200	Weak transcription	Small Intestine	intestine
42	chr5:115429600-115448600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr5:115429800-115435000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:115430200-115433600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:115430200-115444000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:115430200-115448800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr5:115430400-115441800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:115430600-115433600	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:115430600-115444000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:115430600-115447400	Weak transcription	Brain Angular Gyrus	brain

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