Variant report

Variant	rs4713849
Chromosome Location	chr6:11747588-11747589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11742447..11744431-chr6:11745938..11748190,2	K562	blood:
2	chr6:11745914..11747958-chr6:11748915..11751495,2	MCF-7	breast:
3	chr6:11745145..11747837-chr6:11750791..11752714,2	K562	blood:
4	chr6:11743986..11745912-chr6:11747510..11751154,3	MCF-7	breast:
5	chr6:11717348..11719875-chr6:11747463..11750048,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs2235392	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2235414	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2235418	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2235419	0.81[AMR][1000 genomes]
rs2294419	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2294421	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]
rs2294425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294426	0.81[AMR][1000 genomes]
rs2294427	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2294428	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4713834	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs760789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs932345	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9348963	0.80[AMR][1000 genomes]
rs9366877	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9368855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
3	nsv428470	chr6:11686198-11747850	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4713849	C6orf105	Cis_1M	lymphoblastoid	RTeQTL
rs4713849	C6orf105	cis	multi-tissue	Pritchard

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11719400-11762200	Weak transcription	Colonic Mucosa	Colon
2	chr6:11725200-11748600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:11732400-11750400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:11732800-11750400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:11735600-11754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:11736200-11752400	Weak transcription	NHEK	skin
7	chr6:11736200-11754800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:11736600-11750600	Weak transcription	Stomach Mucosa	stomach
9	chr6:11738600-11762000	Weak transcription	Gastric	stomach
10	chr6:11739000-11755000	Weak transcription	HMEC	breast
11	chr6:11739600-11751800	Weak transcription	HUVEC	blood vessel
12	chr6:11742000-11755000	Weak transcription	HSMM	muscle
13	chr6:11743800-11750200	Weak transcription	Small Intestine	intestine
14	chr6:11744400-11749000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:11744800-11754400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:11745000-11748600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:11745000-11748800	Weak transcription	Placenta	Placenta
18	chr6:11745200-11749600	Weak transcription	Fetal Intestine Small	intestine
19	chr6:11745400-11750200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:11745400-11751200	Weak transcription	Pancreas	Pancrea
21	chr6:11745400-11752800	Weak transcription	Aorta	Aorta
22	chr6:11745800-11748200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:11745800-11748800	Weak transcription	Fetal Intestine Large	intestine
24	chr6:11745800-11754200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:11746800-11749200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:11747000-11747800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:11747000-11747800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:11747000-11748000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:11747000-11748000	Enhancers	HSMMtube	muscle
30	chr6:11747200-11748400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:11747400-11747600	Enhancers	Colon Smooth Muscle	Colon
32	chr6:11747400-11748600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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