Variant report

Variant	rs6981592
Chromosome Location	chr8:118909394-118909395
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10110572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10808489	1.00[CEU][hapmap];0.89[GIH][hapmap]
rs13251971	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs13266866	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.92[ASN][1000 genomes]
rs13275942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13280053	1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.85[MKK][hapmap];0.80[YRI][hapmap];0.91[ASN][1000 genomes]
rs3860883	0.82[JPT][hapmap]
rs4467961	0.90[CHB][hapmap];0.82[CHD][hapmap]
rs4876769	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4876770	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4876774	0.81[CHB][hapmap]
rs6469715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6990519	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997503	1.00[CEU][hapmap]
rs7002023	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7014561	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7814022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7841914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9692869	1.00[CEU][hapmap];0.87[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6981592	NOBOX	trans	multi-tissue	Pritchard
rs6981592	EXT1	cis	parietal	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
2	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
4	chr8:118894600-118912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:118904000-118910600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:118904400-118912600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:118905200-118911200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:118905200-118912200	Enhancers	Fetal Lung	lung
9	chr8:118905600-118914400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:118905800-118909800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:118905800-118911200	Enhancers	Aorta	Aorta
12	chr8:118905800-118911600	Weak transcription	Fetal Brain Male	brain
13	chr8:118906000-118910400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:118906000-118911600	Weak transcription	Fetal Brain Female	brain
15	chr8:118906000-118912200	Weak transcription	Gastric	stomach
16	chr8:118906000-118917600	Enhancers	NHLF	lung
17	chr8:118906200-118909600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:118906400-118909400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:118906400-118909400	Weak transcription	Brain Substantia Nigra	brain
20	chr8:118906600-118915000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:118907000-118909800	Enhancers	Liver	Liver
22	chr8:118907200-118909800	Enhancers	Osteobl	bone
23	chr8:118907200-118915000	Weak transcription	Adipose Nuclei	Adipose
24	chr8:118907400-118910400	Enhancers	Colon Smooth Muscle	Colon
25	chr8:118907400-118910400	Weak transcription	NH-A	brain
26	chr8:118907400-118914600	Weak transcription	HSMM	muscle
27	chr8:118907600-118909800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:118907800-118909600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:118907800-118910400	Enhancers	Fetal Heart	heart
30	chr8:118908000-118909600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:118908000-118909800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:118908000-118909800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:118908000-118910000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr8:118908000-118910000	Enhancers	Left Ventricle	heart
35	chr8:118908000-118918200	Weak transcription	HSMMtube	muscle
36	chr8:118908200-118910000	Enhancers	HMEC	breast
37	chr8:118908200-118910600	Weak transcription	HUVEC	blood vessel
38	chr8:118908200-118911800	Enhancers	NHEK	skin
39	chr8:118908200-118913200	Enhancers	Fetal Stomach	stomach
40	chr8:118908200-118915000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:118908600-118909600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:118908600-118909600	Enhancers	Fetal Muscle Leg	muscle
43	chr8:118908600-118909600	Enhancers	Pancreas	Pancrea
44	chr8:118908600-118909600	Enhancers	Rectal Smooth Muscle	rectum
45	chr8:118908600-118909600	Enhancers	Right Ventricle	heart
46	chr8:118908600-118909600	Enhancers	Stomach Mucosa	stomach
47	chr8:118908600-118909800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr8:118908600-118909800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:118908600-118909800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr8:118908600-118910000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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