Variant report

Variant	esv3398211
Chromosome Location	chr7:149731319-149741067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:732)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:149737961-149737980	LNCaP	prostate:	n/a	n/a
2	CTCF	chr7:149740511-149740578	GM13976	blood:	n/a	n/a
3	CTCF	chr7:149737918-149738030	Pancreas_OC	pancreas:	n/a	n/a
4	POLR2A	chr7:149739490-149739554	K562	blood:	n/a	n/a
5	POLR2A	chr7:149737322-149737443	K562	blood:	n/a	n/a
6	POLR2A	chr7:149740533-149740744	K562	blood:	n/a	n/a
7	POLR2A	chr7:149738559-149738669	K562	blood:	n/a	n/a
8	POLR2A	chr7:149732085-149732595	K562	blood:	n/a	n/a
9	POLR2A	chr7:149739047-149739263	K562	blood:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149736127-149736177	BE2_C	brain:	n/a
2	chr7:149735726-149735776	A549	lung:	n/a
3	chr7:149732579-149732629	SKMC	muscle:	n/a
4	chr7:149732847-149732897	HRCEpiC	kidney:	n/a
5	chr7:149735726-149735776	NT2-D1	testis:	n/a
6	chr7:149731767-149731817	AG04450	lung:	fetal
7	chr7:149731767-149731817	BJ	skin:	n/a
8	chr7:149732847-149732897	LNCaP	prostate:	n/a
9	chr7:149731742-149731792	GM12892	blood:	n/a
10	chr7:149736127-149736177	SAEC	small airway:	n/a
11	chr7:149736127-149736177	HMEC	breast:	n/a
12	chr7:149732579-149732629	T-47D	breast:	n/a
13	chr7:149733821-149733871	HEK293	kidney:	embryo
14	chr7:149733103-149733153	HMEC	breast:	n/a
15	chr7:149731742-149731792	HAEpiC	amniotic membrane:	n/a
16	chr7:149733821-149733871	PANC-1	pancreas:	n/a
17	chr7:149731767-149731817	HRE	kidney:	n/a
18	chr7:149734481-149734531	AG09309	skin:	n/a
19	chr7:149738473-149738523	PANC-1	pancreas:	n/a
20	chr7:149735726-149735776	GM19239	blood:	n/a
21	chr7:149735726-149735776	SK-N-SH	brain:	n/a
22	chr7:149733821-149733871	Hela-S3	cervix:	n/a
23	chr7:149735729-149735779	PANC-1	pancreas:	n/a
24	chr7:149731742-149731792	NB4	blood:	n/a
25	chr7:149732847-149732897	SK-N-SH	brain:	n/a
26	chr7:149731742-149731792	RPTEC	kidney:	n/a
27	chr7:149732847-149732897	HL-60	blood:	n/a
28	chr7:149732579-149732629	MCF10A-Er-Src	breast:	n/a
29	chr7:149732579-149732629	PANC-1	pancreas:	n/a
30	chr7:149732579-149732629	GM19239	blood:	n/a
31	chr7:149735729-149735779	ovcar-3	ovarian:	n/a
32	chr7:149733821-149733871	HRCEpiC	kidney:	n/a
33	chr7:149738501-149738551	AG10803	skin:	n/a
34	chr7:149733103-149733153	HAEpiC	amniotic membrane:	n/a
35	chr7:149731767-149731817	NHBE	bronchial:	n/a
36	chr7:149738501-149738551	IMR90	lung:	fetal
37	chr7:149733103-149733153	K562	blood:	n/a
38	chr7:149736127-149736177	RPTEC	kidney:	n/a
39	chr7:149736127-149736177	HepG2	liver:	n/a
40	chr7:149733821-149733871	IMR90	lung:	fetal
41	chr7:149734481-149734531	NHDF-neo	bronchial:	n/a
42	chr7:149735729-149735779	Jurkat	blood:	n/a
43	chr7:149734481-149734531	A549	lung:	n/a
44	chr7:149732579-149732629	NHBE	bronchial:	n/a
45	chr7:149732579-149732629	MCF-7	breast:	n/a
46	chr7:149732847-149732897	PrEC	prostate:	n/a
47	chr7:149738501-149738551	NT2-D1	testis:	n/a
48	chr7:149732847-149732897	T-47D	breast:	n/a
49	chr7:149731742-149731792	U87	brain:	n/a
50	chr7:149731767-149731817	SAEC	small airway:	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V0E2-2	chr7:149738452-149738550	NONHSAT124091
2	lnc-ATP6V0E2-2	chr7:149732185-149732207	NONHSAT124087
3	lnc-ATP6V0E2-2	chr7:149738452-149738550	ENSG00000241449
4	lnc-ATP6V0E2-2	chr7:149737556-149737743	NONHSAT124091
5	lnc-ATP6V0E2-2	chr7:149735636-149735802	NONHSAT124088
6	lnc-ATP6V0E2-2	chr7:149737610-149737743	ENSG00000241449

No data

Variant related genes	Relation type
ENSG00000241449	TF binding region
ENSG00000241449	CpG island

Extended variants
information (count: 1093 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1093 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540002092	chr7:149731327-149731328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559796141	chr7:149731333-149731334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532208603	chr7:149731357-149731358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551969788	chr7:149731369-149731370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191922059	chr7:149731378-149731379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531505693	chr7:149731381-149731382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202110891	chr7:149731413-149731414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9918688	chr7:149731415-149731416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184170857	chr7:149731420-149731421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530101013	chr7:149731426-149731427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546804387	chr7:149731466-149731467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187577143	chr7:149731468-149731469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539099084	chr7:149731470-149731471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191429987	chr7:149731491-149731492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2449740	chr7:149731525-149731526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538198881	chr7:149731533-149731534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555242225	chr7:149731555-149731556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112602594	chr7:149731559-149731560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140029892	chr7:149731564-149731565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553319189	chr7:149731566-149731567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548574996	chr7:149731568-149731569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545446311	chr7:149731608-149731609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111304705	chr7:149731613-149731614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531595095	chr7:149731629-149731630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541803513	chr7:149731630-149731631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201310832	chr7:149731633-149731634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561993130	chr7:149731634-149731635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530071430	chr7:149731663-149731664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183828247	chr7:149731681-149731682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187019561	chr7:149731682-149731683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566828257	chr7:149731706-149731707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571397803	chr7:149731717-149731718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73725961	chr7:149731723-149731724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368462828	chr7:149731725-149731726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547815589	chr7:149731727-149731728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201016562	chr7:149731732-149731733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552697013	chr7:149731738-149731739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145259509	chr7:149731743-149731744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371929513	chr7:149731748-149731749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538802410	chr7:149731753-149731754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554999878	chr7:149731754-149731755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375734998	chr7:149731767-149731768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568752411	chr7:149731770-149731771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112866582	chr7:149731771-149731772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191965147	chr7:149731783-149731784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112550115	chr7:149731785-149731786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553354296	chr7:149731786-149731787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185227968	chr7:149731798-149731799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369147485	chr7:149731801-149731802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62501575	chr7:149731803-149731804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149730200-149744000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:149733000-149744000	Weak transcription	Right Atrium	heart
3	chr7:149737000-149737200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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