Variant report

Variant	esv1835774
Chromosome Location	chr1:194448945-194488293
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	CBX3	chr1:194479655-194479980	K562	blood:	n/a	n/a
2	CBX3	chr1:194479720-194479912	K562	blood:	n/a	n/a
3	CEBPB	chr1:194465951-194466182	IMR90	lung:	n/a	chr1:194466086-194466097
4	CEBPB	chr1:194465936-194466208	HepG2	liver:	n/a	chr1:194466086-194466097
5	CTCF	chr1:194484429-194484500	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:194467253-194467289	GM12878	blood:	n/a	n/a
7	CTCF	chr1:194465280-194465327	Medullo	brain:	n/a	n/a
8	E2F4	chr1:194477091-194477264	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr1:194482175-194482455	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr1:194482116-194482385	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr1:194477859-194477867	K562	blood:	n/a	n/a
12	FOS	chr1:194467460-194467528	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr1:194467437-194467637	MCF10A-Er-Src	breast:	n/a	n/a
14	FOSL2	chr1:194482069-194482543	SK-N-SH	brain:	n/a	n/a
15	FOXA1	chr1:194467218-194467517	T-47D	breast:	n/a	chr1:194467391-194467403
16	GATA3	chr1:194474914-194475060	SH-SY5Y	brain:	n/a	n/a
17	KAP1	chr1:194464780-194465208	HEK293	kidney:	n/a	n/a
18	KAP1	chr1:194473636-194473735	K562	blood:	n/a	n/a
19	MAFF	chr1:194483062-194483345	HepG2	liver:	n/a	n/a
20	MAFF	chr1:194481554-194481786	HepG2	liver:	n/a	n/a
21	MAFF	chr1:194476814-194477105	HepG2	liver:	n/a	n/a
22	MAFK	chr1:194483093-194483373	IMR90	lung:	n/a	n/a
23	MAFK	chr1:194476819-194477161	IMR90	lung:	n/a	chr1:194476941-194476952 chr1:194477068-194477082 chr1:194476936-194476952 chr1:194477069-194477080 chr1:194476941-194476952 chr1:194476939-194476953 chr1:194477069-194477085 chr1:194476936-194476951 chr1:194476940-194476951 chr1:194476940-194476951 chr1:194477069-194477080
24	MAFK	chr1:194483119-194483325	HepG2	liver:	n/a	n/a
25	MAFK	chr1:194476792-194477123	HepG2	liver:	n/a	chr1:194476941-194476952 chr1:194477068-194477082 chr1:194476936-194476952 chr1:194477069-194477080 chr1:194476941-194476952 chr1:194476939-194476953 chr1:194477069-194477085 chr1:194476936-194476951 chr1:194476940-194476951 chr1:194476940-194476951 chr1:194477069-194477080
26	MAFK	chr1:194476838-194477081	Hela-S3	cervix:	n/a	chr1:194476941-194476952 chr1:194476936-194476952 chr1:194477069-194477080 chr1:194476941-194476952 chr1:194476939-194476953 chr1:194476936-194476951 chr1:194476940-194476951 chr1:194476940-194476951 chr1:194477069-194477080
27	MAFK	chr1:194481546-194481826	IMR90	lung:	n/a	chr1:194481674-194481691
28	MAFK	chr1:194481515-194481847	HepG2	liver:	n/a	chr1:194481674-194481691
29	MAFK	chr1:194481542-194481787	HepG2	liver:	n/a	chr1:194481674-194481691
30	MAFK	chr1:194476811-194477141	HepG2	liver:	n/a	chr1:194476941-194476952 chr1:194477068-194477082 chr1:194476936-194476952 chr1:194477069-194477080 chr1:194476941-194476952 chr1:194476939-194476953 chr1:194477069-194477085 chr1:194476936-194476951 chr1:194476940-194476951 chr1:194476940-194476951 chr1:194477069-194477080
31	MAFK	chr1:194483055-194483384	HepG2	liver:	n/a	n/a
32	MXI1	chr1:194485596-194485623	K562	blood:	n/a	n/a
33	NRF1	chr1:194471145-194471317	GM12878	blood:	n/a	n/a
34	PBX3	chr1:194482056-194482523	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr1:194481302-194481618	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr1:194468226-194468270	MCF-7	breast:	n/a	n/a
37	POLR2A	chr1:194479897-194479963	MCF-7	breast:	n/a	n/a
38	POLR2A	chr1:194464747-194464782	Gliobla	brain:	n/a	n/a
39	POLR2A	chr1:194454968-194455073	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:194468872-194468967	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr1:194467564-194467894	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr1:194480001-194480070	MCF-7	breast:	n/a	n/a
43	POLR2A	chr1:194454984-194455155	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr1:194471122-194471217	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:194455986-194456039	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr1:194485184-194485319	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr1:194458499-194458567	Hela-S3	cervix:	n/a	n/a
48	RFX5	chr1:194487961-194488036	K562	blood:	n/a	n/a
49	RUNX3	chr1:194456341-194456565	GM12878	blood:	n/a	n/a
50	RUNX3	chr1:194456413-194456607	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:194470680..194473383-chr1:194480491..194482592,2	K562	blood:
2	chr1:194450165..194451814-chr1:194453131..194454944,2	MCF-7	breast:
3	chr1:194450165..194451814-chr1:194453131..194454944,2	MCF-7	breast:
4	chr1:194470680..194473383-chr1:194480491..194482592,2	K562	blood:

Variant related genes	Relation type
RNU6-983P	TF binding region

Extended variants
information (count: 330 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534441194	chr1:194458502-194458503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs74131728	chr1:194458525-194458526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs541752221	chr1:194470755-194470756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545824694	chr1:194470788-194470789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540508979	chr1:194470793-194470794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563923922	chr1:194470798-194470799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528224485	chr1:194470811-194470812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546705432	chr1:194470812-194470813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150505344	chr1:194470829-194470830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184550161	chr1:194470847-194470848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377431184	chr1:194470852-194470853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189387108	chr1:194470871-194470872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568518940	chr1:194470880-194470881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569090848	chr1:194470883-194470884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557733376	chr1:194470924-194470925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531614535	chr1:194470965-194470966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114245840	chr1:194470975-194470976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551797357	chr1:194470979-194470980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565657746	chr1:194471000-194471001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183838639	chr1:194479803-194479804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112374083	chr1:194479822-194479823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532704467	chr1:194479839-194479840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs557440033	chr1:194479842-194479843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs59803392	chr1:194479870-194479871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs116718178	chr1:194479949-194479950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs12026751	chr1:194480001-194480002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs59077816	chr1:194480012-194480013	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2494331	chr1:194480032-194480033	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548732104	chr1:194480043-194480044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs4409633	chr1:194480061-194480062	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146789296	chr1:194480081-194480082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs61814876	chr1:194480120-194480121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs555813554	chr1:194480126-194480127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs180828290	chr1:194480130-194480131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs538485535	chr1:194480132-194480133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs72735061	chr1:194480165-194480166	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs114512158	chr1:194480192-194480193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs377000251	chr1:194480194-194480195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs554679518	chr1:194480217-194480218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74131745	chr1:194480221-194480222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368245328	chr1:194480284-194480285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543553653	chr1:194480288-194480289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80318402	chr1:194480315-194480316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143505279	chr1:194480339-194480340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528828887	chr1:194480356-194480357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540912656	chr1:194480379-194480380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79816575	chr1:194480412-194480413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76594410	chr1:194480413-194480414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143565634	chr1:194480475-194480476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367570279	chr1:194480514-194480515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194470600-194471000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:194479800-194480200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:194480200-194484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:194482200-194482800	Enhancers	Rectal Smooth Muscle	rectum
5	chr1:194484200-194484400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:194485000-194485600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:194486400-194487400	Enhancers	Primary B cells from cord blood	blood
8	chr1:194486600-194487200	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:194487000-194487400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:194487400-194488400	Weak transcription	Primary B cells from cord blood	blood

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