Variant report

Variant	esv2562286
Chromosome Location	chr1:10230395-10231752
allele	n/a
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	ARID3A	chr1:10230536-10231522	HepG2	liver:	n/a	chr1:10230903-10230919 chr1:10230904-10230920
2	BATF	chr1:10230116-10230650	GM12878	blood:	n/a	chr1:10230575-10230585
3	BATF	chr1:10230182-10230505	GM12878	blood:	n/a	n/a
4	BCL11A	chr1:10230320-10230632	GM12878	blood:	n/a	n/a
5	BHLHE40	chr1:10230325-10230761	GM12878	blood:	n/a	n/a
6	CEBPB	chr1:10231059-10231782	HepG2	liver:	n/a	chr1:10231610-10231621
7	CEBPB	chr1:10231137-10231774	HepG2	liver:	n/a	chr1:10231610-10231621
8	CEBPB	chr1:10230074-10230863	GM12878	blood:	n/a	n/a
9	CEBPB	chr1:10231477-10231634	HepG2	liver:	n/a	chr1:10231610-10231621
10	CEBPD	chr1:10231162-10231716	HepG2	liver:	n/a	n/a
11	CUX1	chr1:10230147-10230397	GM12878	blood:	n/a	n/a
12	EBF1	chr1:10230340-10230726	GM12878	blood:	n/a	n/a
13	EBF1	chr1:10230404-10230730	GM12878	blood:	n/a	n/a
14	EBF1	chr1:10230384-10230644	GM12878	blood:	n/a	n/a
15	ELK1	chr1:10230330-10230662	GM12878	blood:	n/a	n/a
16	EP300	chr1:10231019-10231787	HepG2	liver:	n/a	n/a
17	EP300	chr1:10230974-10231509	HepG2	liver:	n/a	n/a
18	EP300	chr1:10230255-10230723	GM12878	blood:	n/a	n/a
19	EP300	chr1:10231160-10231485	HepG2	liver:	n/a	n/a
20	EP300	chr1:10230196-10230731	GM12878	blood:	n/a	n/a
21	FOXA1	chr1:10230986-10231681	HepG2	liver:	n/a	n/a
22	FOXA1	chr1:10231049-10231603	HepG2	liver:	n/a	n/a
23	FOXA1	chr1:10230947-10231630	HepG2	liver:	n/a	n/a
24	FOXA1	chr1:10230976-10231649	HepG2	liver:	n/a	n/a
25	FOXA2	chr1:10230461-10231842	HepG2	liver:	n/a	n/a
26	FOXA2	chr1:10231008-10231672	HepG2	liver:	n/a	n/a
27	FOXM1	chr1:10230091-10230771	GM12878	blood:	n/a	n/a
28	GATA3	chr1:10231293-10231566	MCF-7	breast:	n/a	n/a
29	HDAC2	chr1:10231044-10231651	HepG2	liver:	n/a	n/a
30	HDAC2	chr1:10231021-10231732	HepG2	liver:	n/a	n/a
31	HEY1	chr1:10230961-10231698	HepG2	liver:	n/a	n/a
32	HEY1	chr1:10231226-10231707	HepG2	liver:	n/a	n/a
33	HEY1	chr1:10230915-10231223	HepG2	liver:	n/a	n/a
34	HNF4A	chr1:10231054-10231622	HepG2	liver:	n/a	chr1:10231222-10231237
35	HNF4A	chr1:10231000-10231556	HepG2	liver:	n/a	chr1:10231222-10231237
36	HNF4A	chr1:10231039-10231585	HepG2	liver:	n/a	chr1:10231222-10231237
37	HNF4G	chr1:10231004-10231672	HepG2	liver:	n/a	n/a
38	HNF4G	chr1:10230989-10231611	HepG2	liver:	n/a	n/a
39	IKZF1	chr1:10230175-10230687	GM12878	blood:	n/a	n/a
40	JUN	chr1:10230416-10230635	HepG2	liver:	n/a	chr1:10230578-10230586 chr1:10230577-10230587 chr1:10230577-10230587 chr1:10230577-10230587 chr1:10230577-10230587
41	JUND	chr1:10231069-10231422	HepG2	liver:	n/a	n/a
42	JUND	chr1:10231072-10231495	HepG2	liver:	n/a	n/a
43	JUND	chr1:10230441-10230629	HepG2	liver:	n/a	chr1:10230576-10230587 chr1:10230578-10230586 chr1:10230577-10230587 chr1:10230577-10230587 chr1:10230577-10230587 chr1:10230577-10230587
44	MAFF	chr1:10231143-10231440	HepG2	liver:	n/a	n/a
45	MAFK	chr1:10231261-10231378	HepG2	liver:	n/a	n/a
46	MAFK	chr1:10231268-10231491	HepG2	liver:	n/a	n/a
47	MBD4	chr1:10231052-10231609	HepG2	liver:	n/a	n/a
48	MBD4	chr1:10230959-10231660	HepG2	liver:	n/a	n/a
49	MXI1	chr1:10231142-10231478	HepG2	liver:	n/a	n/a
50	MYBL2	chr1:10230934-10231687	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
UBE4B	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560195255	chr1:10230401-10230402	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs527728519	chr1:10230441-10230442	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs17034563	chr1:10230506-10230507	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530666457	chr1:10230540-10230541	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561627287	chr1:10230586-10230587	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531880838	chr1:10230775-10230776	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs115776359	chr1:10230788-10230789	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs549061685	chr1:10230813-10230814	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs560931627	chr1:10230988-10230989	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs565513759	chr1:10231019-10231020	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188141589	chr1:10231034-10231035	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs547561408	chr1:10231096-10231097	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375253390	chr1:10231119-10231120	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs147245303	chr1:10231243-10231244	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs1801442	chr1:10231262-10231263	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201844344	chr1:10231263-10231264	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs199837285	chr1:10231300-10231301	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144910738	chr1:10231312-10231313	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs142901446	chr1:10231330-10231331	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs372671422	chr1:10231348-10231349	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs371129617	chr1:10231365-10231366	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs200184210	chr1:10231378-10231379	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs536255023	chr1:10231411-10231412	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs80094534	chr1:10231456-10231457	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs12092513	chr1:10231463-10231464	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs192904996	chr1:10231464-10231465	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs140106997	chr1:10231485-10231486	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs576657010	chr1:10231487-10231488	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs534508442	chr1:10231502-10231503	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs553855689	chr1:10231506-10231507	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs546597586	chr1:10231519-10231520	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs543026567	chr1:10231524-10231525	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs571234470	chr1:10231531-10231532	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs561089520	chr1:10231532-10231533	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs542892969	chr1:10231546-10231547	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs372686740	chr1:10231574-10231575	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs182584249	chr1:10231578-10231579	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs565572941	chr1:10231609-10231610	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs186489452	chr1:10231650-10231651	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs538528350	chr1:10231677-10231678	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs192558957	chr1:10231705-10231706	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10182200-10231200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:10182800-10231400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:10184000-10235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:10193200-10231200	Weak transcription	Small Intestine	intestine
6	chr1:10194200-10232200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:10195600-10231200	Weak transcription	HUVEC	blood vessel
8	chr1:10201600-10231200	Weak transcription	HMEC	breast
9	chr1:10211200-10236400	Strong transcription	Fetal Stomach	stomach
10	chr1:10213200-10231000	Weak transcription	A549	lung
11	chr1:10213800-10236000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:10214600-10235600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:10214600-10237000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:10215400-10234400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:10216200-10236400	Strong transcription	Placenta	Placenta
16	chr1:10218000-10234600	Strong transcription	Liver	Liver
17	chr1:10218200-10235800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:10218200-10236600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:10218400-10236200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:10219800-10234000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:10220000-10233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:10221000-10236400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr1:10221000-10236600	Strong transcription	Adipose Nuclei	Adipose
24	chr1:10221200-10230400	Strong transcription	Fetal Intestine Small	intestine
25	chr1:10221800-10242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:10222000-10236000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:10222200-10236400	Strong transcription	Stomach Smooth Muscle	stomach
28	chr1:10223000-10235000	Strong transcription	Fetal Muscle Leg	muscle
29	chr1:10223000-10237800	Weak transcription	Psoas Muscle	Psoas
30	chr1:10224400-10233400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:10224400-10233400	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr1:10224400-10235000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:10224400-10235600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:10224400-10236600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:10224600-10230600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:10224800-10234200	Strong transcription	Fetal Brain Female	brain
37	chr1:10224800-10236600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:10225800-10231200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:10226000-10232600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:10226000-10232600	Weak transcription	Fetal Heart	heart
41	chr1:10226400-10231200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:10226400-10231200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:10226400-10238800	Weak transcription	NHEK	skin
44	chr1:10226600-10231200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:10226600-10232600	Weak transcription	NH-A	brain
46	chr1:10227400-10235800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:10227600-10233200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:10227600-10233400	Strong transcription	Brain Hippocampus Middle	brain
49	chr1:10227600-10233400	Strong transcription	Left Ventricle	heart
50	chr1:10227600-10234000	Strong transcription	Brain Substantia Nigra	brain

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