Variant report

Variant	rs947999
Chromosome Location	chr11:76347032-76347033
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76345088..76347686-chr11:76350787..76353535,2	K562	blood:
2	chr11:76313070..76315285-chr11:76346641..76348994,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11236816	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236827	0.85[ASN][1000 genomes]
rs11236829	0.85[ASN][1000 genomes]
rs11236831	0.85[ASN][1000 genomes]
rs11236832	0.85[ASN][1000 genomes]
rs12798614	0.85[ASN][1000 genomes]
rs1939465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs57894787	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58783758	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67649252	0.94[ASN][1000 genomes]
rs73497463	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73497464	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73497467	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949206	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs948000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1043912	chr11:76301316-76439095	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1039451	chr11:76301316-76440221	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs947999	TSKU	cis	cerebellum	SCAN
rs947999	ALG8	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76341600-76347200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:76341600-76353000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:76342000-76347400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:76342400-76348400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:76342600-76348000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:76342600-76348000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:76342800-76347200	Weak transcription	Adipose Nuclei	Adipose
8	chr11:76343800-76347600	Weak transcription	HUVEC	blood vessel
9	chr11:76345200-76349200	Enhancers	Fetal Muscle Leg	muscle
10	chr11:76345200-76349400	Enhancers	Fetal Stomach	stomach
11	chr11:76346000-76349000	Enhancers	Fetal Muscle Trunk	muscle
12	chr11:76346000-76349600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr11:76346000-76349800	Enhancers	Left Ventricle	heart
14	chr11:76346000-76350800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:76346200-76349800	Enhancers	Placenta	Placenta
16	chr11:76346400-76347200	Weak transcription	Aorta	Aorta
17	chr11:76346400-76349000	Enhancers	Right Ventricle	heart
18	chr11:76346400-76350200	Enhancers	Lung	lung
19	chr11:76346600-76347600	Weak transcription	Right Atrium	heart
20	chr11:76346600-76350800	Enhancers	Primary B cells from peripheral blood	blood
21	chr11:76346800-76349800	Enhancers	Spleen	Spleen
22	chr11:76346800-76352000	Enhancers	Primary B cells from cord blood	blood
23	chr11:76347000-76347400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:76347000-76349800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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