Variant report

Variant	rs2077317
Chromosome Location	chr9:27159526-27159527
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs480723	0.83[JPT][hapmap];0.81[YRI][hapmap];0.82[ASN][1000 genomes]
rs504947	0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.88[ASN][1000 genomes]
rs600728	0.83[JPT][hapmap];0.81[YRI][hapmap];0.82[ASN][1000 genomes]
rs602112	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs628873	0.81[CHD][hapmap];0.88[JPT][hapmap];0.83[LWK][hapmap];0.87[MKK][hapmap];0.85[YRI][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892862	chr9:26956663-27190655	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1016733	chr9:27073650-27264576	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1022313	chr9:27083369-27250505	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1017802	chr9:27088160-27262682	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1019104	chr9:27088160-27358206	Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv892863	chr9:27138898-27170934	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv6512	chr9:27155677-27200455	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2077317	KNTC1	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27151000-27172800	Weak transcription	Left Ventricle	heart
2	chr9:27151000-27229200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:27151200-27164800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:27151800-27165000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr9:27152000-27174600	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:27152200-27165400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:27152400-27181600	Weak transcription	Adipose Nuclei	Adipose
8	chr9:27155400-27161400	Weak transcription	Fetal Lung	lung
9	chr9:27155400-27164600	Weak transcription	Fetal Stomach	stomach
10	chr9:27157200-27162000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:27157400-27165400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr9:27157600-27159600	Strong transcription	HUVEC	blood vessel
13	chr9:27157600-27162000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:27157600-27164200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:27157800-27160000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:27157800-27162000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:27158000-27161600	Weak transcription	Osteobl	bone
18	chr9:27158200-27164600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr9:27158200-27165600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr9:27158200-27183600	Weak transcription	Lung	lung
21	chr9:27158400-27165800	Weak transcription	Spleen	Spleen
22	chr9:27159000-27159600	Enhancers	Fetal Heart	heart
23	chr9:27159400-27162000	Weak transcription	Colon Smooth Muscle	Colon

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