Variant report

Variant	rs11817730
Chromosome Location	chr10:99358511-99358512
allele	A/G
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	chr10:99358400-99358550	RPTEC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:99341781..99343970-chr10:99356673..99358698,2	MCF-7	breast:
2	chr10:99256797..99259240-chr10:99356663..99359169,2	MCF-7	breast:

Variant related genes	Relation type
HOGA1	TF binding region
ENSG00000165886	Chromatin interaction
ENSG00000155229	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1977790	0.90[ASN][1000 genomes]
rs2297644	0.87[CEU][hapmap]
rs2861970	0.90[ASN][1000 genomes]
rs61863283	0.89[ASN][1000 genomes]
rs7068278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7078003	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs7093643	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[ASN][1000 genomes]
rs7093840	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7897051	0.86[CHB][hapmap]
rs7897232	0.86[CHB][hapmap]
rs7913812	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1047359	chr10:99306501-99369013	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11817730	FRAT2	cis	cerebellum	SCAN
rs11817730	UBTD1	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99349600-99370800	Weak transcription	Fetal Stomach	stomach
2	chr10:99350600-99360600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:99350800-99361600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:99351600-99375600	Weak transcription	Fetal Intestine Small	intestine
5	chr10:99354800-99358800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr10:99355400-99359000	Enhancers	NHEK	skin
7	chr10:99356400-99358600	Weak transcription	Pancreas	Pancrea
8	chr10:99356400-99358800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:99356400-99360400	Weak transcription	Fetal Muscle Leg	muscle
10	chr10:99356400-99360800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr10:99356400-99361400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr10:99356400-99361600	Weak transcription	Aorta	Aorta
13	chr10:99356400-99373800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:99356600-99361200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr10:99356800-99366200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:99357000-99359600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:99357000-99366200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:99357400-99359000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:99357400-99359200	Enhancers	Psoas Muscle	Psoas
20	chr10:99357400-99361200	Weak transcription	HSMM	muscle
21	chr10:99357400-99361800	Enhancers	Left Ventricle	heart
22	chr10:99357600-99359000	Weak transcription	Fetal Heart	heart
23	chr10:99357600-99360800	Weak transcription	Brain Substantia Nigra	brain
24	chr10:99357600-99361400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:99357800-99358600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:99357800-99360800	Weak transcription	NHLF	lung
27	chr10:99357800-99367000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr10:99357800-99367000	Weak transcription	Right Atrium	heart
29	chr10:99358000-99361600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr10:99358200-99358800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr10:99358200-99362800	Strong transcription	Liver	Liver
32	chr10:99358400-99358800	Enhancers	Spleen	Spleen
33	chr10:99358400-99359600	Genic enhancers	Right Ventricle	heart
34	chr10:99358400-99361400	Weak transcription	A549	lung

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