Variant report

Variant	rs10057084
Chromosome Location	chr5:126324100-126324101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126305965..126308847-chr5:126322511..126324364,2	K562	blood:
2	chr5:126317999..126320558-chr5:126321951..126325024,3	K562	blood:
3	chr5:126305965..126309284-chr5:126320390..126324364,3	K562	blood:
4	chr5:126318646..126324314-chr5:126364325..126368351,7	K562	blood:
5	chr5:126315513..126317424-chr5:126323234..126325077,2	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10053382	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10060747	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10065302	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10067364	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10071669	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1013662	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]
rs1034844	1.00[CEU][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10463826	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10491284	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10900789	0.96[CEU][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs11241912	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs11241913	0.82[CEU][hapmap];0.83[TSI][hapmap]
rs11949302	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11956061	0.96[CEU][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs11960799	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12515192	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs12655220	0.82[CEU][hapmap];0.83[TSI][hapmap]
rs12655640	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12657369	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13154281	0.84[EUR][1000 genomes]
rs13189409	0.87[EUR][1000 genomes]
rs2041318	0.85[CEU][hapmap];0.86[CHB][hapmap];0.80[TSI][hapmap]
rs2108458	0.87[EUR][1000 genomes]
rs2108459	0.87[EUR][1000 genomes]
rs2191209	0.92[CEU][hapmap];0.95[CHB][hapmap]
rs2240527	1.00[CEU][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2240528	1.00[CEU][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs248040	0.86[CHB][hapmap]
rs248081	0.84[CEU][hapmap]
rs248107	0.89[CEU][hapmap]
rs4131248	0.86[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4380710	0.82[CEU][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs4835921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4835922	0.84[EUR][1000 genomes]
rs4836300	0.85[TSI][hapmap]
rs4836306	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836307	1.00[CEU][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6860726	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6883871	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6891329	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6891436	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6899133	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs727038	0.85[CEU][hapmap];0.90[CHB][hapmap]
rs729607	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7706333	1.00[CEU][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs7713933	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7716410	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs7721948	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7731621	0.89[CEU][hapmap];0.95[CHB][hapmap]
rs7731664	0.83[ASN][1000 genomes]
rs7733551	1.00[CEU][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs7736693	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs9327424	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9327425	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9327426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9327428	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10057084	MARCH3	cis	Muscle Skeletal	GTEx
rs10057084	C5orf63	cis	Nerve Tibial	GTEx
rs10057084	MARCH3	cis	cerebellum	SCAN
rs10057084	MARCH3	cis	parietal	SCAN
rs10057084	C5orf63	cis	Esophagus Muscularis	GTEx
rs10057084	C5orf63	cis	Artery Aorta	GTEx
rs10057084	C5orf63	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126308400-126328800	Weak transcription	Gastric	stomach
2	chr5:126309000-126331000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:126309000-126331600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:126309400-126334000	Weak transcription	Small Intestine	intestine
5	chr5:126312800-126331600	Weak transcription	HSMM	muscle
6	chr5:126320000-126324800	Weak transcription	Spleen	Spleen
7	chr5:126320200-126324200	Enhancers	Fetal Heart	heart
8	chr5:126320800-126356000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:126322400-126324200	Enhancers	K562	blood
10	chr5:126323000-126324200	Enhancers	Brain Anterior Caudate	brain
11	chr5:126323200-126324200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:126323200-126324200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr5:126323200-126324600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:126323200-126324600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:126323200-126324800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr5:126323200-126325400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr5:126323200-126325600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:126323200-126325600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr5:126323400-126324200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:126323400-126324200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr5:126323400-126324400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:126323400-126324400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:126323400-126324600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr5:126323400-126325200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:126323400-126325400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:126323400-126334800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:126323600-126324200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:126323600-126324200	Active TSS	Primary B cells from cord blood	blood
29	chr5:126323600-126324200	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr5:126323600-126324600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:126323600-126325000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:126323600-126325400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr5:126323600-126326800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr5:126323600-126330400	Weak transcription	Right Atrium	heart
35	chr5:126323600-126334000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:126323800-126324200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr5:126323800-126324200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr5:126323800-126324200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:126323800-126324200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr5:126323800-126324200	Enhancers	HepG2	liver
41	chr5:126323800-126325400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:126324000-126324200	Enhancers	HUVEC	blood vessel
43	chr5:126324000-126324400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr5:126324000-126324400	Active TSS	GM12878-XiMat	blood
45	chr5:126324000-126325200	Weak transcription	Fetal Thymus	thymus
46	chr5:126324000-126325800	Enhancers	Primary B cells from peripheral blood	blood
47	chr5:126324000-126328800	Weak transcription	Psoas Muscle	Psoas
48	chr5:126324000-126330400	Weak transcription	Left Ventricle	heart
49	chr5:126324000-126330800	Weak transcription	Right Ventricle	heart
50	chr5:126324000-126333800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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