Variant report

Variant	rs1013662
Chromosome Location	chr5:126363854-126363855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126113643..126115692-chr5:126362942..126365785,2	K562	blood:
2	chr5:126181847..126184918-chr5:126362668..126365476,3	K562	blood:
3	chr5:126362494..126364434-chr5:126372915..126374749,2	K562	blood:
4	chr5:126362711..126365443-chr5:126540946..126543546,2	MCF-7	breast:
5	chr5:126183285..126184918-chr5:126362668..126364579,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10051184	0.80[EUR][1000 genomes]
rs10053382	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10057084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10060747	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10065302	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10067364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10071669	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1034844	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10463826	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10491284	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10900789	0.96[CEU][hapmap]
rs11241912	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs11241913	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs11949302	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11956061	0.96[CEU][hapmap]
rs11960799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12515192	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12655220	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs12655640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12657369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13154281	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13189409	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2041318	0.85[CEU][hapmap];0.86[CHB][hapmap]
rs2108458	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2108459	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2191209	0.93[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs2240527	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2240528	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs248040	0.86[CHB][hapmap]
rs248081	0.81[CEU][hapmap];0.80[YRI][hapmap]
rs248107	0.86[CEU][hapmap]
rs3936304	0.80[EUR][1000 genomes]
rs3936305	0.80[EUR][1000 genomes]
rs4131248	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.80[EUR][1000 genomes]
rs4380710	0.82[CEU][hapmap]
rs4835921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4835922	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4836306	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4836307	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6595746	0.80[EUR][1000 genomes]
rs6860726	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[ASN][1000 genomes]
rs6875043	0.80[EUR][1000 genomes]
rs6883871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6891436	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6899133	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs727038	0.85[CEU][hapmap];0.90[CHB][hapmap]
rs729607	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7706333	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7713933	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap]
rs7716410	0.96[CEU][hapmap]
rs7721948	0.87[EUR][1000 genomes]
rs7729349	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7731621	0.89[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs7733551	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7736693	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9327424	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9327425	0.87[EUR][1000 genomes]
rs9327426	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9327428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1013662	C5orf63	cis	Esophagus Muscularis	GTEx
rs1013662	C5orf63	cis	Nerve Tibial	GTEx
rs1013662	MARCH3	cis	Muscle Skeletal	GTEx
rs1013662	C5orf63	cis	Artery Aorta	GTEx
rs1013662	C5orf63	cis	Artery Tibial	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126347800-126365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:126349200-126364400	Weak transcription	Primary T cells from cord blood	blood
3	chr5:126351800-126365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:126352000-126364200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:126356000-126364400	Weak transcription	GM12878-XiMat	blood
6	chr5:126360000-126364400	Weak transcription	Small Intestine	intestine
7	chr5:126360200-126364200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:126360200-126364400	Weak transcription	Right Atrium	heart
9	chr5:126360200-126364400	Weak transcription	NH-A	brain
10	chr5:126360200-126364600	Weak transcription	Spleen	Spleen
11	chr5:126360400-126364400	Weak transcription	Brain Substantia Nigra	brain
12	chr5:126361000-126364400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:126361000-126364400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:126361200-126364400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:126361400-126364400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:126361600-126364400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:126361800-126364200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:126361800-126364200	Enhancers	HepG2	liver
19	chr5:126361800-126364400	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:126361800-126365000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:126362000-126364400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:126362000-126365000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:126362200-126364200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:126362200-126364200	Weak transcription	Adipose Nuclei	Adipose
25	chr5:126362200-126364400	Weak transcription	HSMMtube	muscle
26	chr5:126362200-126364600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:126362400-126364200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:126362600-126364200	Enhancers	K562	blood
29	chr5:126362600-126364400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:126362800-126364400	Enhancers	Primary B cells from peripheral blood	blood
31	chr5:126362800-126365200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:126362800-126365200	Weak transcription	Pancreas	Pancrea
33	chr5:126362800-126367200	Active TSS	Right Ventricle	heart
34	chr5:126363000-126364200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:126363000-126364400	Enhancers	Ovary	ovary
36	chr5:126363000-126367200	Active TSS	HSMM	muscle
37	chr5:126363200-126364400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:126363200-126364400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:126363200-126364400	Weak transcription	Psoas Muscle	Psoas
40	chr5:126363200-126364400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:126363200-126364600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:126363400-126364200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:126363400-126364200	Enhancers	HUVEC	blood vessel
44	chr5:126363400-126364400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:126363400-126364400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr5:126363400-126364400	Weak transcription	Fetal Heart	heart
47	chr5:126363400-126364400	Weak transcription	Fetal Muscle Leg	muscle
48	chr5:126363400-126364400	Weak transcription	Left Ventricle	heart
49	chr5:126363400-126364600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr5:126363600-126364000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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