Variant report

Variant	rs11188740
Chromosome Location	chr10:98137255-98137256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:98137220-98137370	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr10:98137220-98137370	HCFaa	heart:	n/a	n/a

Variant related genes	Relation type
TLL2	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10882784	0.87[ASN][1000 genomes]
rs11597420	0.88[MEX][hapmap]
rs11818883	0.88[CHB][hapmap];0.89[ASN][1000 genomes]
rs11818896	0.88[CHB][hapmap];0.89[ASN][1000 genomes]
rs11818942	0.88[CHB][hapmap];0.91[CHD][hapmap];0.89[ASN][1000 genomes]
rs17111762	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2093557	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2181324	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3789942	0.88[CHB][hapmap];0.91[CHD][hapmap];0.87[ASN][1000 genomes]
rs56094817	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61741039	0.87[ASN][1000 genomes]
rs7077344	0.88[CHB][hapmap];0.83[CHD][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	esv3413353	chr10:98039370-98561524	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv831950	chr10:98080972-98245434	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1047657	chr10:98123234-98183487	Weak transcription Active TSS Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11188740	GOT1	cis	cerebellum	SCAN
rs11188740	CHUK	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98135200-98137400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:98135200-98137400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:98135200-98137400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:98135200-98137600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:98135200-98137600	Weak transcription	Esophagus	oesophagus
6	chr10:98135200-98137600	Weak transcription	Gastric	stomach
7	chr10:98135200-98137600	Enhancers	NHEK	skin
8	chr10:98135200-98137800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:98135200-98139200	Enhancers	Rectal Smooth Muscle	rectum
10	chr10:98135200-98139400	Enhancers	Colon Smooth Muscle	Colon
11	chr10:98135200-98139600	Weak transcription	Colonic Mucosa	Colon
12	chr10:98135400-98137400	Weak transcription	Fetal Heart	heart
13	chr10:98135400-98137800	Weak transcription	Spleen	Spleen
14	chr10:98135400-98139600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr10:98135400-98140800	Weak transcription	Hela-S3	cervix
16	chr10:98135400-98149600	Weak transcription	Right Atrium	heart
17	chr10:98135600-98137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:98135600-98137600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:98135600-98137600	Weak transcription	Right Ventricle	heart
20	chr10:98135600-98137800	Weak transcription	Brain Germinal Matrix	brain
21	chr10:98135600-98138400	Weak transcription	Pancreas	Pancrea
22	chr10:98135600-98139600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:98135600-98141000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr10:98136800-98139000	Enhancers	Placenta	Placenta
25	chr10:98137000-98137400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:98137200-98138400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:98137200-98138800	Enhancers	Left Ventricle	heart
28	chr10:98137200-98138800	Enhancers	Stomach Smooth Muscle	stomach
29	chr10:98137200-98139200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr10:98137200-98139200	Enhancers	Lung	lung

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