Variant report

Variant	rs10502247
Chromosome Location	chr11:120998942-120998943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10892674	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11218153	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1893023	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1893707	0.99[ASN][1000 genomes]
rs2155465	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2155466	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs594711	0.90[MEX][hapmap]
rs628756	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs642548	0.95[MEX][hapmap]
rs7105712	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524	chr11:120963503-121008167	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10502247	SCN4B	cis	cerebellum	SCAN
rs10502247	UBE4A	cis	parietal	SCAN
rs10502247	BUD13	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120975800-121005600	Weak transcription	Right Ventricle	heart
2	chr11:120993200-121008000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:120993800-121000600	Weak transcription	Fetal Stomach	stomach
4	chr11:120994000-121016200	Weak transcription	Brain Substantia Nigra	brain
5	chr11:120994200-120999400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:120994400-121042400	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:120994600-121000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:120996400-121005200	Weak transcription	HSMMtube	muscle
9	chr11:120996800-121005400	Weak transcription	Left Ventricle	heart
10	chr11:120996800-121016400	Weak transcription	Ovary	ovary
11	chr11:120996800-121037800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:120997200-121005000	Weak transcription	Right Atrium	heart
13	chr11:120998000-121002400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:120998200-121001600	Weak transcription	Fetal Intestine Small	intestine
15	chr11:120998400-120999000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:120998400-120999000	Strong transcription	Aorta	Aorta
17	chr11:120998400-120999000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
18	chr11:120998400-120999000	ZNF genes & repeats	Gastric	stomach
19	chr11:120998400-120999600	Strong transcription	Brain Anterior Caudate	brain
20	chr11:120998400-121000000	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr11:120998400-121001000	Strong transcription	Fetal Brain Female	brain
22	chr11:120998400-121007800	Weak transcription	Fetal Brain Male	brain
23	chr11:120998600-120999400	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:120998600-120999600	Strong transcription	Brain Germinal Matrix	brain
25	chr11:120998800-121007800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:120998800-121009400	Weak transcription	Spleen	Spleen

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