Variant report

Variant	rs7768673
Chromosome Location	chr6:73334719-73334720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:73331830..73337292-chr6:73338860..73341706,8	K562	blood:
2	chr6:73262215..73264630-chr6:73332275..73334908,2	K562	blood:
3	chr6:73332974..73335121-chr6:73343658..73345935,2	K562	blood:
4	chr6:73334481..73336205-chr6:73704822..73706981,2	K562	blood:
5	chr6:73334237..73336368-chr6:73349929..73351569,2	K562	blood:

Variant related genes	Relation type
ENSG00000233844	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10455268	1.00[CHB][hapmap]
rs10484913	1.00[CHB][hapmap]
rs10485213	1.00[CHB][hapmap]
rs10943043	0.89[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943045	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10943050	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10943051	1.00[CHB][hapmap]
rs10943055	1.00[CHB][hapmap]
rs10943057	1.00[CHB][hapmap]
rs11758568	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12190091	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190092	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12191039	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12191848	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12193274	0.91[CEU][hapmap];0.90[MEX][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12194741	0.91[CEU][hapmap];1.00[CHB][hapmap];0.80[MEX][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12195259	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12196826	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12197962	1.00[CHB][hapmap]
rs12199549	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12200468	1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[ASN][1000 genomes]
rs12200908	1.00[CHB][hapmap]
rs12201380	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12203288	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12204139	1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12204989	1.00[CHB][hapmap]
rs12205254	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205374	1.00[CHB][hapmap]
rs12208053	1.00[CHB][hapmap]
rs12208907	1.00[CHB][hapmap]
rs12210850	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12211580	1.00[CHB][hapmap]
rs12212268	1.00[CHB][hapmap]
rs12212419	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12212562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212818	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12214096	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12214894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214895	1.00[CHB][hapmap]
rs12215865	1.00[CHB][hapmap]
rs12374630	1.00[CHB][hapmap]
rs12374631	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17692715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17692874	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17692898	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17729195	1.00[CHB][hapmap]
rs17749408	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17749420	1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[ASN][1000 genomes]
rs1928153	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34821312	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55633371	1.00[ASN][1000 genomes]
rs55826353	1.00[ASN][1000 genomes]
rs56086224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56254477	1.00[ASN][1000 genomes]
rs56316829	1.00[ASN][1000 genomes]
rs62411975	1.00[ASN][1000 genomes]
rs62411984	1.00[ASN][1000 genomes]
rs62411986	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6453591	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6453592	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453593	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453594	0.91[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922524	1.00[ASN][1000 genomes]
rs6922932	1.00[ASN][1000 genomes]
rs6931918	1.00[CHB][hapmap]
rs6935174	1.00[CHB][hapmap]
rs719830	1.00[CHB][hapmap]
rs7748594	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7776215	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7768673	C6orf221	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73333400-73336000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr6:73333400-73336200	Enhancers	Primary B cells from peripheral blood	blood
3	chr6:73333600-73334800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:73333600-73334800	Enhancers	Fetal Heart	heart
5	chr6:73333800-73335600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr6:73333800-73335600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:73333800-73335800	Enhancers	Primary T cells from cord blood	blood
8	chr6:73333800-73350800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:73334000-73335400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr6:73334200-73334800	Active TSS	Fetal Brain Female	brain
11	chr6:73334200-73337200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr6:73334400-73335800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:73334400-73336000	Enhancers	Dnd41	blood
14	chr6:73334400-73336200	Enhancers	Primary B cells from cord blood	blood
15	chr6:73334400-73336800	Enhancers	K562	blood
16	chr6:73334400-73337200	Weak transcription	NHEK	skin
17	chr6:73334400-73346400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:73334400-73358800	Weak transcription	HSMM	muscle
19	chr6:73334600-73334800	Flanking Active TSS	GM12878-XiMat	blood
20	chr6:73334600-73335000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:73334600-73335000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:73334600-73336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:73334600-73356200	Weak transcription	HMEC	breast

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