Variant report

Variant	rs17092288
Chromosome Location	chr10:116445135-116445136
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	JUND	chr10:116443698-116446290	SK-N-SH	brain:	n/a	chr10:116445995-116446006
2	GATA3	chr10:116444104-116445748	SK-N-SH	brain:	n/a	n/a
3	EP300	chr10:116444212-116445160	A549	lung:	n/a	n/a
4	ARID3A	chr10:116444339-116445521	HepG2	liver:	n/a	n/a
5	TCF12	chr10:116443710-116445170	A549	lung:	n/a	n/a
6	POLR2A	chr10:116445118-116445171	MCF10A-Er-Src	breast:	n/a	n/a
7	TCF12	chr10:116443949-116446182	SK-N-SH	brain:	n/a	chr10:116445841-116445851
8	TCF12	chr10:116443846-116446152	SK-N-SH	brain:	n/a	chr10:116445841-116445851
9	PBX3	chr10:116444474-116446095	SK-N-SH	brain:	n/a	chr10:116445154-116445165
10	KAP1	chr10:116444021-116445457	U2OS	brain:	n/a	n/a
11	GATA3	chr10:116443977-116446176	SK-N-SH	brain:	n/a	n/a
12	MXI1	chr10:116444121-116445839	SK-N-SH	brain:	n/a	n/a
13	EP300	chr10:116443767-116446353	SK-N-SH	brain:	n/a	n/a
14	SP1	chr10:116443978-116445135	A549	lung:	n/a	chr10:116444237-116444250 chr10:116444582-116444596 chr10:116444358-116444367 chr10:116444415-116444425 chr10:116444415-116444425
15	JUND	chr10:116444510-116445145	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
ABLIM1	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11814078	1.00[ASN][1000 genomes]
rs11816826	1.00[ASN][1000 genomes]
rs11817330	1.00[ASN][1000 genomes]
rs11817337	1.00[ASN][1000 genomes]
rs1413196	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17092260	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092299	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092337	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483589	1.00[ASN][1000 genomes]
rs2497666	1.00[ASN][1000 genomes]
rs2497667	1.00[ASN][1000 genomes]
rs56044402	1.00[ASN][1000 genomes]
rs59738549	1.00[ASN][1000 genomes]
rs60460075	1.00[ASN][1000 genomes]
rs60870849	1.00[ASN][1000 genomes]
rs61669564	1.00[ASN][1000 genomes]
rs61867889	1.00[ASN][1000 genomes]
rs61867917	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61867918	1.00[ASN][1000 genomes]
rs61867919	1.00[ASN][1000 genomes]
rs61867923	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61867924	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61867925	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61867929	1.00[ASN][1000 genomes]
rs61867933	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61869065	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61869066	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61869068	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61869069	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61869071	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7070890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7084277	1.00[ASN][1000 genomes]
rs73363911	1.00[ASN][1000 genomes]
rs74158064	1.00[ASN][1000 genomes]
rs74158066	1.00[ASN][1000 genomes]
rs74158068	1.00[ASN][1000 genomes]
rs74158070	1.00[ASN][1000 genomes]
rs74158071	1.00[ASN][1000 genomes]
rs74158072	1.00[ASN][1000 genomes]
rs74158073	1.00[ASN][1000 genomes]
rs74158075	1.00[ASN][1000 genomes]
rs74158076	1.00[ASN][1000 genomes]
rs74158079	1.00[ASN][1000 genomes]
rs74158081	1.00[ASN][1000 genomes]
rs74158083	1.00[ASN][1000 genomes]
rs7914325	1.00[ASN][1000 genomes]
rs7915853	1.00[ASN][1000 genomes]
rs9421195	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116441200-116445200	Flanking Active TSS	HUVEC	blood vessel
2	chr10:116441400-116445600	Enhancers	Fetal Brain Male	brain
3	chr10:116441400-116446200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:116441800-116445200	Weak transcription	Brain Angular Gyrus	brain
5	chr10:116441800-116445600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:116441800-116450800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:116442600-116445400	Flanking Active TSS	A549	lung
8	chr10:116442600-116445600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:116443000-116445600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr10:116443400-116445200	Enhancers	Brain Germinal Matrix	brain
11	chr10:116443400-116445600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr10:116443400-116446200	Enhancers	Small Intestine	intestine
13	chr10:116443600-116445400	Enhancers	Fetal Stomach	stomach
14	chr10:116443600-116445400	Flanking Active TSS	HepG2	liver
15	chr10:116443800-116445200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:116443800-116445200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:116443800-116446000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr10:116443800-116446000	Enhancers	Placenta	Placenta
19	chr10:116444000-116445200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:116444000-116445400	Enhancers	Osteobl	bone
21	chr10:116444000-116447400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr10:116444200-116445200	Weak transcription	Aorta	Aorta
23	chr10:116444200-116445800	Enhancers	HMEC	breast
24	chr10:116444400-116445200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr10:116444400-116445200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:116444400-116445400	Weak transcription	Gastric	stomach
27	chr10:116444400-116445400	Weak transcription	Left Ventricle	heart
28	chr10:116444400-116445600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr10:116444400-116445600	Enhancers	Fetal Brain Female	brain
30	chr10:116444400-116445600	Enhancers	Right Ventricle	heart
31	chr10:116444400-116445800	Enhancers	Colon Smooth Muscle	Colon
32	chr10:116444400-116447200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr10:116444400-116447400	Enhancers	Stomach Mucosa	stomach
34	chr10:116444400-116448400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr10:116444400-116448800	Weak transcription	Ovary	ovary
36	chr10:116444400-116452800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:116444400-116457200	Weak transcription	Esophagus	oesophagus
38	chr10:116444600-116445200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr10:116444600-116445200	Weak transcription	Brain Substantia Nigra	brain
40	chr10:116444600-116445200	Weak transcription	Right Atrium	heart
41	chr10:116444600-116445400	Enhancers	Rectal Smooth Muscle	rectum
42	chr10:116444600-116445600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr10:116444600-116445600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:116444600-116445600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr10:116444600-116445600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:116444600-116445600	Enhancers	Stomach Smooth Muscle	stomach
47	chr10:116444600-116446000	Enhancers	Duodenum Mucosa	Duodenum
48	chr10:116444600-116446000	Enhancers	Fetal Intestine Small	intestine
49	chr10:116444600-116446000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr10:116444600-116446000	Enhancers	HSMM	muscle

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