Variant report

Variant	esv2497060
Chromosome Location	chr1:210638608-210640022
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	BATF	chr1:210639136-210639554	GM12878	blood:	n/a	n/a
2	BCL3	chr1:210639350-210639648	GM12878	blood:	n/a	n/a
3	EP300	chr1:210639821-210642006	SK-N-SH	brain:	n/a	chr1:210641181-210641195
4	EP300	chr1:210639112-210639548	GM12878	blood:	n/a	n/a
5	GATA3	chr1:210637591-210638731	SK-N-SH	brain:	n/a	chr1:210638206-210638213 chr1:210638206-210638213 chr1:210638199-210638220 chr1:210638206-210638213 chr1:210638204-210638214
6	IRF4	chr1:210639090-210639514	GM12878	blood:	n/a	n/a
7	KAP1	chr1:210637676-210638775	U2OS	brain:	n/a	chr1:210638314-210638322
8	KAP1	chr1:210637708-210638765	HEK293	kidney:	n/a	chr1:210638314-210638322
9	NFATC1	chr1:210639329-210639649	GM12878	blood:	n/a	n/a
10	PAX5	chr1:210639194-210639522	GM12878	blood:	n/a	n/a
11	PBX3	chr1:210639197-210639475	GM12878	blood:	n/a	n/a
12	PBX3	chr1:210639134-210639539	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:210639076-210639685	GM12892	blood:	n/a	n/a
14	POLR2A	chr1:210639190-210639486	GM12878	blood:	n/a	n/a
15	POU2F2	chr1:210639195-210639451	GM12878	blood:	n/a	n/a
16	POU2F2	chr1:210639103-210639554	GM12878	blood:	n/a	n/a
17	REST	chr1:210639125-210639564	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr1:210639134-210639507	H1-hESC	embryonic stem cell:	n/a	n/a
19	RXRA	chr1:210639095-210639507	GM12878	blood:	n/a	n/a
20	SIX5	chr1:210639199-210639493	K562	blood:	n/a	n/a
21	SP1	chr1:210639116-210639473	GM12878	blood:	n/a	n/a
22	TCF12	chr1:210637677-210638614	SK-N-SH	brain:	n/a	n/a
23	TCF3	chr1:210639180-210639619	GM12878	blood:	n/a	n/a
24	USF1	chr1:210639198-210639461	GM12878	blood:	n/a	n/a
25	USF1	chr1:210639162-210639463	HepG2	liver:	n/a	n/a
26	ZBTB33	chr1:210639116-210639523	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:210638414..210639957-chr1:210641526..210644422,2	K562	blood:
2	chr1:210544521..210546591-chr1:210638749..210641083,2	MCF-7	breast:
3	chr1:210627850..210630784-chr1:210637225..210638957,2	K562	blood:
4	chr1:210636990..210639038-chr1:210644516..210646058,2	MCF-7	breast:
5	chr1:210628178..210631075-chr1:210639085..210641802,2	K562	blood:

Variant related genes	Relation type
ENSG00000270936	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533972683	chr1:210638702-210638703	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs552563447	chr1:210638703-210638704	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs76166828	chr1:210638742-210638743	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs373463056	chr1:210638767-210638768	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs557144727	chr1:210638802-210638803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575555012	chr1:210638826-210638827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538042701	chr1:210638847-210638848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4845034	chr1:210638848-210638849	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554398404	chr1:210638857-210638858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376498507	chr1:210638930-210638931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116444270	chr1:210638967-210638968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539821859	chr1:210639125-210639126	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs564913131	chr1:210639149-210639150	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs543488983	chr1:210639178-210639179	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs147817436	chr1:210639232-210639233	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs570451270	chr1:210639234-210639235	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111070123	chr1:210639358-210639359	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs544508271	chr1:210639363-210639364	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs562741560	chr1:210639422-210639423	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs66493529	chr1:210639432-210639433	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs530271422	chr1:210639440-210639441	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs141456428	chr1:210639446-210639447	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs552560470	chr1:210639447-210639448	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs72747429	chr1:210639456-210639457	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs150385784	chr1:210639466-210639467	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs527800688	chr1:210639467-210639468	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs370192012	chr1:210639486-210639487	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs552247025	chr1:210639490-210639491	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs377112947	chr1:210639491-210639492	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs184648776	chr1:210639500-210639501	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs550933333	chr1:210639510-210639511	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs190252418	chr1:210639516-210639517	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs536083679	chr1:210639526-210639527	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs554773456	chr1:210639532-210639533	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs115132663	chr1:210639573-210639574	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs138076286	chr1:210639629-210639630	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs558085118	chr1:210639668-210639669	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs576477706	chr1:210639674-210639675	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs544495796	chr1:210639694-210639695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535387432	chr1:210639719-210639720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182479914	chr1:210639722-210639723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35657485	chr1:210639754-210639755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542024087	chr1:210639804-210639805	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116722888	chr1:210639872-210639873	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs199819534	chr1:210639938-210639939	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs34696162	chr1:210639953-210639954	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs184127040	chr1:210639958-210639959	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs149470318	chr1:210639987-210639988	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210571400-210641000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:210611600-210639600	Weak transcription	Aorta	Aorta
3	chr1:210614600-210641200	Weak transcription	Gastric	stomach
4	chr1:210625800-210638800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:210626200-210650000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:210628400-210640800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:210630000-210641200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:210630200-210641400	Weak transcription	Liver	Liver
9	chr1:210631000-210644200	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:210631000-210653800	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:210631200-210640200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:210632000-210639000	Weak transcription	Lung	lung
13	chr1:210635800-210639800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:210636000-210639400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:210636000-210641000	Weak transcription	Ovary	ovary
16	chr1:210636400-210646000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:210637200-210640800	Weak transcription	Right Ventricle	heart
18	chr1:210637400-210640600	Weak transcription	Spleen	Spleen
19	chr1:210637800-210638800	Enhancers	Dnd41	blood
20	chr1:210637800-210639800	Strong transcription	HSMMtube	muscle
21	chr1:210637800-210640000	Strong transcription	Left Ventricle	heart
22	chr1:210638000-210641200	Strong transcription	HSMM	muscle
23	chr1:210638200-210642400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:210638400-210644400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:210638800-210640400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:210639400-210668200	Weak transcription	Primary T cells from cord blood	blood
27	chr1:210639600-210640000	Strong transcription	Aorta	Aorta
28	chr1:210639800-210640000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:210639800-210640000	Genic enhancers	HSMMtube	muscle
30	chr1:210640000-210640800	Weak transcription	HSMMtube	muscle
31	chr1:210640000-210650600	Weak transcription	Left Ventricle	heart
32	chr1:210640000-210660400	Weak transcription	Aorta	Aorta

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