Variant report

Variant	rs6569847
Chromosome Location	chr6:133083187-133083188
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:133080844..133083243-chr6:133120275..133122727,2	K562	blood:
2	chr6:133054047..133059196-chr6:133082600..133087082,5	MCF-7	breast:
3	chr6:133082471..133084490-chr6:133097635..133100360,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000093134	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10457591	1.00[CHB][hapmap]
rs10457596	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10484629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1128998	1.00[CHB][hapmap]
rs11962883	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11964512	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190684	1.00[CHB][hapmap]
rs12197430	1.00[CHB][hapmap]
rs12198849	0.83[ASN][1000 genomes]
rs12203977	1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12204027	1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12211701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1467403	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467404	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813347	1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58832890	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61421874	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62424539	0.83[ASN][1000 genomes]
rs6569848	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910639	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6912936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915168	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6934161	1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73554431	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7738071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7738400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7753595	0.85[YRI][hapmap]
rs7758703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769051	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7770081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321367	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9321371	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9375919	1.00[CHB][hapmap]
rs9389032	1.00[CHB][hapmap]
rs9399041	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402452	1.00[CHB][hapmap]
rs9402453	1.00[CHB][hapmap]
rs9402455	1.00[CHB][hapmap]
rs9493435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9493437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493438	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493443	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493444	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493445	1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493446	1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493454	1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.86[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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6569847	C6orf192	cis	multi-tissue	Pritchard
rs6569847	C6orf192	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133061400-133098000	Weak transcription	Spleen	Spleen
2	chr6:133065000-133098000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:133068800-133083200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:133069600-133083200	Weak transcription	Thymus	Thymus
5	chr6:133072800-133084400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:133072800-133084800	Weak transcription	Stomach Mucosa	stomach
7	chr6:133073200-133083200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:133075800-133083600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:133079000-133083200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:133079000-133083200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:133079000-133083200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:133079000-133083600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:133079000-133083800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:133079000-133084800	Weak transcription	Liver	Liver
15	chr6:133079000-133085000	Weak transcription	A549	lung
16	chr6:133079400-133083200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:133080000-133083200	Weak transcription	Primary B cells from cord blood	blood
18	chr6:133080200-133083200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr6:133080400-133085000	Weak transcription	Adipose Nuclei	Adipose
20	chr6:133080400-133085200	Weak transcription	Right Atrium	heart
21	chr6:133081400-133084600	Weak transcription	Fetal Stomach	stomach
22	chr6:133081400-133096800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:133081600-133084400	Weak transcription	Placenta	Placenta
24	chr6:133081800-133083200	Weak transcription	Primary T cells from cord blood	blood
25	chr6:133081800-133083200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:133081800-133086800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:133082400-133083600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:133082400-133083800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr6:133082600-133083200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr6:133082600-133083600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr6:133082600-133083600	Enhancers	Primary B cells from peripheral blood	blood
32	chr6:133082600-133083600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr6:133082800-133083600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:133083000-133083400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:133083000-133083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:133083000-133083800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr6:133083000-133084000	Flanking Active TSS	GM12878-XiMat	blood

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