Variant report

Variant	rs7913812
Chromosome Location	chr10:99357631-99357632
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	EP300	chr10:99357573-99357899	HepG2	liver:	n/a	n/a
2	FOXA2	chr10:99357574-99357850	HepG2	liver:	n/a	n/a
3	FOS	chr10:99357605-99357868	MCF10A-Er-Src	breast:	n/a	chr10:99357754-99357765
4	FOSL2	chr10:99357540-99357938	HepG2	liver:	n/a	chr10:99357753-99357764
5	NFE2	chr10:99357606-99357934	K562	blood:	n/a	chr10:99357755-99357770
6	FOXA1	chr10:99357546-99358009	HepG2	liver:	n/a	n/a
7	MAFF	chr10:99357337-99357953	K562	blood:	n/a	chr10:99357754-99357772
8	TCF7L2	chr10:99357526-99357723	Hela-S3	cervix:	n/a	n/a
9	MAFK	chr10:99357574-99357948	HepG2	liver:	n/a	chr10:99357755-99357770
10	FOS	chr10:99357585-99357946	HUVEC	blood vessel:	n/a	chr10:99357754-99357765
11	FOXA1	chr10:99357534-99357848	HepG2	liver:	n/a	n/a
12	CEBPB	chr10:99357561-99357788	HepG2	liver:	n/a	n/a
13	MAFK	chr10:99357575-99357941	HepG2	liver:	n/a	chr10:99357755-99357770
14	FOXA1	chr10:99357516-99358008	HepG2	liver:	n/a	n/a
15	IRF1	chr10:99357587-99358038	K562	blood:	n/a	n/a
16	ZBTB7A	chr10:99357556-99357694	HepG2	liver:	n/a	n/a
17	JUND	chr10:99357578-99357907	HepG2	liver:	n/a	chr10:99357754-99357765
18	MAFK	chr10:99357581-99357955	K562	blood:	n/a	chr10:99357755-99357770
19	MAFF	chr10:99357577-99357955	HepG2	liver:	n/a	chr10:99357754-99357772
20	BACH1	chr10:99357582-99357950	K562	blood:	n/a	n/a
21	FOS	chr10:99357610-99357827	MCF10A-Er-Src	breast:	n/a	chr10:99357754-99357765
22	MAFK	chr10:99357592-99357880	Hela-S3	cervix:	n/a	chr10:99357755-99357770
23	HNF4A	chr10:99357552-99357826	HepG2	liver:	n/a	n/a
24	BACH1	chr10:99357617-99357900	H1-hESC	embryonic stem cell:	n/a	n/a
25	FOSL2	chr10:99357584-99357886	HepG2	liver:	n/a	chr10:99357753-99357764
26	FOS	chr10:99357595-99357927	MCF10A-Er-Src	breast:	n/a	chr10:99357754-99357765
27	FOS	chr10:99357628-99357823	MCF10A-Er-Src	breast:	n/a	chr10:99357754-99357765
28	MAFK	chr10:99357595-99357945	IMR90	lung:	n/a	chr10:99357755-99357770

No.	Distal block	Cell Line	Cell type
1	chr10:99351412..99353396-chr10:99355023..99357817,2	K562	blood:
2	chr10:99341781..99343970-chr10:99356673..99358698,2	MCF-7	breast:
3	chr10:99256797..99259240-chr10:99356663..99359169,2	MCF-7	breast:
4	chr10:99355507..99358331-chr10:99358774..99361735,2	K562	blood:

Variant related genes	Relation type
HOGA1	TF binding region
ENSG00000155229	Chromatin interaction
ENSG00000241935	Chromatin interaction
ENSG00000165886	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11817730	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977790	0.90[ASN][1000 genomes]
rs2861970	0.90[ASN][1000 genomes]
rs61863283	0.89[ASN][1000 genomes]
rs7068278	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7078003	0.82[EUR][1000 genomes]
rs7093643	0.86[ASN][1000 genomes]
rs7093840	0.86[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

No data

Chromatin state (count:46 , 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	chr10:99355400-99357800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:99355400-99357800	Enhancers	NHDF-Ad	bronchial
8	chr10:99355400-99357800	Enhancers	NHLF	lung
9	chr10:99355400-99359000	Enhancers	NHEK	skin
10	chr10:99355600-99357800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr10:99355600-99358000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:99355600-99358000	Enhancers	HMEC	breast
13	chr10:99355800-99358000	Enhancers	K562	blood
14	chr10:99356000-99358000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:99356000-99358200	Enhancers	Hela-S3	cervix
16	chr10:99356400-99357800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:99356400-99358200	Weak transcription	Liver	Liver
18	chr10:99356400-99358600	Weak transcription	Pancreas	Pancrea
19	chr10:99356400-99358800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:99356400-99360400	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:99356400-99360800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr10:99356400-99361400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr10:99356400-99361600	Weak transcription	Aorta	Aorta
24	chr10:99356400-99373800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr10:99356600-99358200	Enhancers	HepG2	liver
26	chr10:99356600-99361200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr10:99356800-99357800	Enhancers	NH-A	brain
28	chr10:99356800-99358000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr10:99356800-99358000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:99356800-99358200	Enhancers	HUVEC	blood vessel
31	chr10:99356800-99358400	Enhancers	A549	lung
32	chr10:99356800-99366200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:99357000-99357800	Enhancers	Osteobl	bone
34	chr10:99357000-99358000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr10:99357000-99358400	Enhancers	Right Ventricle	heart
36	chr10:99357000-99359600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr10:99357000-99366200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:99357400-99357800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:99357400-99357800	Enhancers	Right Atrium	heart
40	chr10:99357400-99359000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:99357400-99359200	Enhancers	Psoas Muscle	Psoas
42	chr10:99357400-99361200	Weak transcription	HSMM	muscle
43	chr10:99357400-99361800	Enhancers	Left Ventricle	heart
44	chr10:99357600-99359000	Weak transcription	Fetal Heart	heart
45	chr10:99357600-99360800	Weak transcription	Brain Substantia Nigra	brain
46	chr10:99357600-99361400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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