Variant report

Variant	rs9349851
Chromosome Location	chr6:57129077-57129078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57125298..57127143-chr6:57127818..57130213,2	K562	blood:
2	chr6:57126469..57129335-chr6:57130714..57132915,2	MCF-7	breast:
3	chr6:57125429..57127143-chr6:57128713..57131182,2	K562	blood:
4	chr6:57128467..57134592-chr6:57180122..57183939,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146143	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1013146	0.83[ASN][1000 genomes]
rs1013147	0.83[ASN][1000 genomes]
rs530617	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6459184	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6920777	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6936915	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747096	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7760349	0.88[CHD][hapmap]
rs9349850	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1034095	chr6:57102042-57162808	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv528165	chr6:57104266-57130574	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9349851	COL21A1	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57123400-57130200	Weak transcription	Fetal Brain Male	brain
2	chr6:57123800-57130600	Enhancers	Colon Smooth Muscle	Colon
3	chr6:57125200-57133200	Enhancers	Rectal Smooth Muscle	rectum
4	chr6:57126400-57129200	Enhancers	NHLF	lung
5	chr6:57126400-57130800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:57127800-57129200	Enhancers	Stomach Smooth Muscle	stomach
7	chr6:57127800-57130600	Enhancers	NHDF-Ad	bronchial
8	chr6:57127800-57130800	Weak transcription	Ovary	ovary
9	chr6:57127800-57132200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:57128200-57129200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:57128200-57129200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:57128200-57130600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:57128400-57132600	Weak transcription	Adipose Nuclei	Adipose
14	chr6:57128600-57129800	Weak transcription	HSMMtube	muscle
15	chr6:57128800-57129600	Weak transcription	Fetal Lung	lung
16	chr6:57128800-57129800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:57128800-57129800	Weak transcription	HSMM	muscle
18	chr6:57128800-57130000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:57128800-57130000	Weak transcription	HUVEC	blood vessel
20	chr6:57128800-57130200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:57128800-57130200	Weak transcription	Fetal Stomach	stomach
22	chr6:57128800-57130400	Weak transcription	NHEK	skin
23	chr6:57128800-57130600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:57128800-57130600	Enhancers	Osteobl	bone
25	chr6:57128800-57132200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:57128800-57132600	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:57129000-57130000	Weak transcription	NH-A	brain
28	chr6:57129000-57130200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links