Variant report

Variant	rs2294421
Chromosome Location	chr6:11753146-11753147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11751708..11754177-chr6:11766373..11768735,2	K562	blood:
2	chr6:11750784..11753771-chr6:12010101..12012661,2	MCF-7	breast:
3	chr6:11748843..11751736-chr6:11752241..11754042,2	K562	blood:

Variant related genes	Relation type
ENSG00000111863	Chromatin interaction
ENSG00000095951	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2235390	0.81[EUR][1000 genomes]
rs2235392	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2235414	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2235418	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2235419	0.80[AMR][1000 genomes]
rs2294419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2294425	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2294426	0.80[AMR][1000 genomes]
rs2294427	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2294428	0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4713834	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4713849	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs760789	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs932345	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9366877	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9368855	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9394285	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2294421	C6orf105	Cis_1M	lymphoblastoid	RTeQTL
rs2294421	C6orf105	cis	multi-tissue	Pritchard

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11719400-11762200	Weak transcription	Colonic Mucosa	Colon
2	chr6:11735600-11754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:11736200-11754800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:11738600-11762000	Weak transcription	Gastric	stomach
5	chr6:11739000-11755000	Weak transcription	HMEC	breast
6	chr6:11742000-11755000	Weak transcription	HSMM	muscle
7	chr6:11744800-11754400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:11745800-11754200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:11748800-11753400	Enhancers	Fetal Intestine Large	intestine
10	chr6:11749600-11755000	Enhancers	Fetal Intestine Small	intestine
11	chr6:11749800-11754000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:11750800-11755000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:11752200-11753200	Enhancers	NHDF-Ad	bronchial
14	chr6:11752400-11753800	Genic enhancers	NHEK	skin
15	chr6:11752400-11757800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:11752600-11753200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:11752600-11753600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:11752800-11753200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:11752800-11754800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:11753000-11753200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:11753000-11753200	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr6:11753000-11753400	Weak transcription	Aorta	Aorta
23	chr6:11753000-11754000	Weak transcription	HUVEC	blood vessel
24	chr6:11753000-11757800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:11753000-11759200	Weak transcription	Stomach Mucosa	stomach
26	chr6:11753000-11760000	Weak transcription	Small Intestine	intestine

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