Variant report

Variant	rs62385219
Chromosome Location	chr5:115498488-115498489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10035646	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10040345	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10042278	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051240	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10051697	0.88[ASN][1000 genomes]
rs10052306	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10055868	0.88[ASN][1000 genomes]
rs10056936	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063296	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10079089	1.00[ASN][1000 genomes]
rs10478281	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10478288	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519448	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12153717	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12332489	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12332585	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12332658	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12514600	0.88[ASN][1000 genomes]
rs12514785	0.88[ASN][1000 genomes]
rs12519989	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12520838	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521612	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12522441	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12523347	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1382339	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1422500	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1592917	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17138907	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17138917	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17139192	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17139193	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17139224	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17139265	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2136208	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35696109	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4283834	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4398671	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59447169	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384181	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384184	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384186	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384187	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62384189	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384212	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384213	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384215	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384229	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384230	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384231	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384233	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384235	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384236	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384237	0.82[AMR][1000 genomes]
rs62384238	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62384250	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62384253	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62385177	0.88[ASN][1000 genomes]
rs62385178	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62385179	0.88[ASN][1000 genomes]
rs62385215	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62385975	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6880880	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7443669	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326989	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9326990	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9326994	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv882739	chr5:115471015-115552945	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1016891	chr5:115477740-115523778	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv537871	chr5:115477740-115523778	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv882740	chr5:115482794-115540041	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv882741	chr5:115484252-115552945	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1032531	chr5:115489694-115583800	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv882742	chr5:115489770-115584159	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv1032338	chr5:115490345-115533527	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv537872	chr5:115490345-115533527	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	nsv1034069	chr5:115490345-115563533	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv537873	chr5:115490345-115563533	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62385219	COMMD10	cis	Muscle Skeletal	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115462600-115502000	Weak transcription	Fetal Intestine Large	intestine
2	chr5:115468600-115501400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:115471600-115521600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:115472800-115500200	Weak transcription	Primary B cells from cord blood	blood
5	chr5:115472800-115500400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:115481400-115536000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:115484400-115510000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:115484400-115521400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:115488400-115501200	Weak transcription	Psoas Muscle	Psoas
10	chr5:115489200-115526800	Weak transcription	Pancreas	Pancrea
11	chr5:115489800-115528600	Weak transcription	Ovary	ovary
12	chr5:115490000-115524400	Weak transcription	Left Ventricle	heart
13	chr5:115492800-115504200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:115494000-115504400	Weak transcription	Aorta	Aorta
15	chr5:115494600-115522200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:115495200-115504600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:115495200-115521600	Weak transcription	Adipose Nuclei	Adipose
18	chr5:115495200-115524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:115495400-115500600	Weak transcription	Primary T cells from cord blood	blood
20	chr5:115495400-115500600	Weak transcription	GM12878-XiMat	blood
21	chr5:115497400-115528800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:115498000-115502200	Weak transcription	Fetal Stomach	stomach
23	chr5:115498400-115498800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:115498400-115500400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:115498400-115502200	Weak transcription	Fetal Intestine Small	intestine

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