Variant report

Variant	rs7001678
Chromosome Location	chr8:124641220-124641221
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10956138	0.82[ASN][1000 genomes]
rs11991567	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12545556	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.88[MKK][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12547295	0.83[CHD][hapmap];0.82[ASN][1000 genomes]
rs12550449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs16898637	0.93[ASN][1000 genomes]
rs1978681	1.00[CHB][hapmap]
rs59344306	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62520925	0.86[ASN][1000 genomes]
rs6470163	0.96[ASN][1000 genomes]
rs73339405	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7387172	1.00[CHB][hapmap]
rs7816145	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7825404	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7836620	1.00[CHB][hapmap]
rs9792209	1.00[CHB][hapmap]

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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7001678	WDR67	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124629200-124645400	Weak transcription	Aorta	Aorta
2	chr8:124631200-124643000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:124634200-124642600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:124635200-124641600	Weak transcription	Left Ventricle	heart
5	chr8:124635200-124642400	Weak transcription	HSMMtube	muscle
6	chr8:124635200-124642800	Weak transcription	Placenta	Placenta
7	chr8:124637400-124641800	Weak transcription	Fetal Heart	heart
8	chr8:124639600-124642400	Enhancers	K562	blood
9	chr8:124639800-124641600	Weak transcription	NHDF-Ad	bronchial
10	chr8:124639800-124641800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:124640200-124647800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:124640800-124646600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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