Variant report

Variant	rs6694508
Chromosome Location	chr1:93842023-93842024
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93836402..93839357-chr1:93841329..93843048,2	K562	blood:

Extended variants
information (count: 126 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1000607	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10782957	0.84[ASN][1000 genomes]
rs10782959	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs10874772	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10874773	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10874777	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10874778	0.83[ASN][1000 genomes]
rs1088318	0.81[ASN][1000 genomes]
rs11164879	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11164902	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11164904	0.84[ASN][1000 genomes]
rs11164908	0.87[CHB][hapmap]
rs11164916	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11164938	0.90[JPT][hapmap]
rs11576494	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12030549	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12030843	0.87[CHB][hapmap]
rs12033147	0.85[CHB][hapmap]
rs12044557	0.86[CHB][hapmap]
rs12044883	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12118262	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap]
rs12124771	0.85[ASN][1000 genomes]
rs12133576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12133907	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12135266	0.90[JPT][hapmap]
rs12138486	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12139633	0.83[ASN][1000 genomes]
rs12406245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12563120	0.86[CHB][hapmap]
rs12742850	0.90[JPT][hapmap]
rs12752223	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1335679	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap]
rs1426318	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1535699	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1535701	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1559828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1593512	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1812668	0.90[JPT][hapmap]
rs2031225	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2031226	0.95[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2114273	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2255722	0.82[CHB][hapmap]
rs2296558	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2391254	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2391256	0.83[ASN][1000 genomes]
rs2391271	0.84[JPT][hapmap]
rs2484486	0.81[CHB][hapmap]
rs2765545	0.95[CEU][hapmap]
rs2783495	0.82[CHB][hapmap]
rs2783499	0.86[CHB][hapmap]
rs2783500	0.86[CHB][hapmap]
rs2783501	0.87[CHB][hapmap]
rs35628716	0.81[ASN][1000 genomes]
rs35915989	0.80[ASN][1000 genomes]
rs3754186	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs3767962	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3767964	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3767967	0.90[JPT][hapmap]
rs3904666	0.82[CHB][hapmap]
rs4000699	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs4240966	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4484937	0.86[CHB][hapmap]
rs4847240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847245	0.90[JPT][hapmap]
rs4847406	0.84[ASN][1000 genomes]
rs4847408	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4847410	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4847412	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847419	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4847420	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4847428	0.90[JPT][hapmap]
rs531358	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs531514	0.82[EUR][1000 genomes]
rs535760	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs547866	0.81[ASN][1000 genomes]
rs555161	0.80[EUR][1000 genomes]
rs569414	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59417472	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs602204	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs612037	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs622608	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs637646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs6541349	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs6541401	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6541404	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6658257	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6680022	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680107	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6682670	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap]
rs6703310	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs682514	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs687394	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes]
rs693737	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs698927	0.81[ASN][1000 genomes]
rs7417952	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7418101	0.82[ASN][1000 genomes]
rs7512911	0.86[EUR][1000 genomes]
rs7513705	0.96[CEU][hapmap];0.95[CHB][hapmap]
rs7517363	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7524964	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7525248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7526112	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7535628	0.95[CEU][hapmap];0.95[CHB][hapmap]
rs7537403	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7539307	0.96[CEU][hapmap];0.95[CHB][hapmap]
rs7540025	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7541304	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7547244	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7551485	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs771458	0.81[ASN][1000 genomes]
rs771462	0.81[ASN][1000 genomes]
rs771481	0.91[CHB][hapmap]
rs797661	0.81[EUR][1000 genomes]
rs797666	0.87[EUR][1000 genomes]
rs797668	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs797671	0.82[EUR][1000 genomes]
rs797672	0.84[EUR][1000 genomes]
rs797680	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs797681	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs810027	0.82[CHB][hapmap]
rs942196	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9432453	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9432459	0.85[ASN][1000 genomes]
rs9432465	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9432681	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs6694508	RP4-717I23.3	cis	Esophagus Mucosa	GTEx
rs6694508	RP4-717I23.3	cis	lung	GTEx
rs6694508	RP4-717I23.3	cis	Artery Tibial	GTEx
rs6694508	DR1	cis	multi-tissue	Pritchard
rs6694508	RP4-717I23.3	cis	Whole Blood	GTEx
rs6694508	RP4-717I23.3	cis	Nerve Tibial	GTEx
rs6694508	TMED5	Cis_1M	lymphoblastoid	RTeQTL
rs6694508	RP4-717I23.3	cis	Adipose Subcutaneous	GTEx
rs6694508	DR1	Cis_1M	lymphoblastoid	RTeQTL
rs6694508	RP4-717I23.3	cis	Esophagus Muscularis	GTEx
rs6694508	RP4-717I23.3	cis	Thyroid	GTEx
rs6694508	DR1	cis	Adipose Subcutaneous	GTEx
rs6694508	RP4-717I23.3	cis	Skin Sun Exposed Lower leg	GTEx
rs6694508	RP4-717I23.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93828200-93842400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:93829200-93843600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:93834200-93848200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:93834400-93842400	Weak transcription	Primary B cells from cord blood	blood
5	chr1:93835800-93850400	Weak transcription	Dnd41	blood
6	chr1:93836000-93843400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:93836000-93848000	Weak transcription	HSMM	muscle
8	chr1:93840200-93851400	Weak transcription	Left Ventricle	heart
9	chr1:93840600-93843400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:93840600-93843400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:93840600-93852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:93840800-93843600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:93840800-93843600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:93841000-93843200	Weak transcription	A549	lung
15	chr1:93841200-93842200	Weak transcription	Primary T cells from cord blood	blood
16	chr1:93841200-93842800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:93841600-93843200	Weak transcription	Thymus	Thymus
18	chr1:93841600-93843600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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