Variant report

Variant	rs1644268
Chromosome Location	chr5:115640808-115640809
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10056823	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10073458	0.80[EUR][1000 genomes]
rs1090077	0.86[EUR][1000 genomes]
rs1090078	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11953135	0.80[EUR][1000 genomes]
rs12109104	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13161146	0.80[EUR][1000 genomes]
rs13161987	0.80[EUR][1000 genomes]
rs1382343	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1382344	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs149131	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs153588	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs153593	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs153594	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1669135	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1669136	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1677405	0.86[EUR][1000 genomes]
rs1677406	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1677415	0.81[ASN][1000 genomes]
rs173813	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs173834	0.82[ASN][1000 genomes]
rs185263	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs253950	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs253951	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs253952	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs253955	0.83[AMR][1000 genomes]
rs253959	0.83[EUR][1000 genomes]
rs253961	0.80[ASN][1000 genomes]
rs254151	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs254152	0.85[ASN][1000 genomes]
rs254171	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs254172	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs254173	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs254174	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs27125	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs27126	0.88[ASN][1000 genomes]
rs27368	0.82[ASN][1000 genomes]
rs28031	0.82[ASN][1000 genomes]
rs37180	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40192	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41271	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42959	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55783029	0.80[EUR][1000 genomes]
rs6861437	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs712561	0.81[EUR][1000 genomes]
rs712574	0.83[ASN][1000 genomes]
rs712579	0.83[ASN][1000 genomes]
rs712588	0.83[ASN][1000 genomes]
rs712591	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs712592	0.83[ASN][1000 genomes]
rs712593	0.83[ASN][1000 genomes]
rs712594	0.83[ASN][1000 genomes]
rs712595	0.83[ASN][1000 genomes]
rs712596	0.83[ASN][1000 genomes]
rs712597	0.83[ASN][1000 genomes]
rs712598	0.83[ASN][1000 genomes]
rs712599	0.83[ASN][1000 genomes]
rs712600	0.83[ASN][1000 genomes]
rs712601	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7723358	0.82[EUR][1000 genomes]
rs784479	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs784481	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs785367	0.84[ASN][1000 genomes]
rs785369	0.83[ASN][1000 genomes]
rs785370	0.83[ASN][1000 genomes]
rs785373	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs785374	0.83[ASN][1000 genomes]
rs785375	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs785377	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs803967	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs809188	0.86[EUR][1000 genomes]
rs809210	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs810742	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1018001	chr5:115640603-115660285	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1644268	COMMD10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115613400-115641600	Weak transcription	HSMM	muscle
2	chr5:115625600-115643000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:115626600-115641600	Weak transcription	Fetal Brain Male	brain
4	chr5:115626800-115642200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:115628000-115643800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:115628400-115641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:115628600-115643400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:115629000-115643800	Weak transcription	HUVEC	blood vessel
9	chr5:115631800-115641800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:115632000-115643000	Weak transcription	NH-A	brain
11	chr5:115632600-115643400	Weak transcription	Stomach Mucosa	stomach
12	chr5:115632800-115642600	Weak transcription	NHDF-Ad	bronchial
13	chr5:115634200-115641400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr5:115634200-115641800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:115634200-115641800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:115634200-115642200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:115634200-115643600	Weak transcription	HepG2	liver
18	chr5:115634200-115664400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:115634400-115641800	Strong transcription	Brain Substantia Nigra	brain
20	chr5:115634400-115645600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:115634600-115641600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:115634800-115641200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr5:115635400-115642400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr5:115635400-115642600	Strong transcription	Left Ventricle	heart
25	chr5:115635400-115643600	Strong transcription	Fetal Intestine Large	intestine
26	chr5:115635600-115641600	Weak transcription	Brain Germinal Matrix	brain
27	chr5:115635800-115641400	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:115636200-115643600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr5:115637600-115643400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:115637600-115643800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:115637800-115642400	Enhancers	Liver	Liver
32	chr5:115637800-115642800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:115638200-115642600	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:115638200-115642800	Strong transcription	Pancreas	Pancrea
35	chr5:115638400-115643000	Strong transcription	Right Ventricle	heart
36	chr5:115638400-115643400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:115638400-115644000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:115638600-115641400	Weak transcription	Fetal Thymus	thymus
39	chr5:115638800-115643400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:115639000-115644400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:115639200-115642000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:115639200-115642000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr5:115639200-115643200	Strong transcription	Placenta	Placenta
44	chr5:115639400-115641600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:115639400-115642800	Strong transcription	A549	lung
46	chr5:115639400-115643000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:115639400-115645200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr5:115639600-115641400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:115639600-115642200	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:115639600-115642800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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