Variant report

Variant	esv3346573
Chromosome Location	chr7:149730819-149739017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:736)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:149731012-149731132	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr7:149737918-149738030	Pancreas_OC	pancreas:	n/a	n/a
3	CTCF	chr7:149737961-149737980	LNCaP	prostate:	n/a	n/a
4	POLR2A	chr7:149738559-149738669	K562	blood:	n/a	n/a
5	POLR2A	chr7:149732085-149732595	K562	blood:	n/a	n/a
6	POLR2A	chr7:149737322-149737443	K562	blood:	n/a	n/a

(count:736 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149738501-149738551	HEEpiC	esophagus:	n/a
2	chr7:149735729-149735779	HRPEpiC	eye:	n/a
3	chr7:149732847-149732897	PrEC	prostate:	n/a
4	chr7:149736127-149736177	BJ	skin:	n/a
5	chr7:149738501-149738551	HEEpiC	esophagus:	n/a
6	chr7:149735729-149735779	HRPEpiC	eye:	n/a
7	chr7:149732847-149732897	PrEC	prostate:	n/a
8	chr7:149736127-149736177	BJ	skin:	n/a
9	chr7:149732579-149732629	HRE	kidney:	n/a
10	chr7:149732847-149732897	ECC-1	luminal epithelium:	n/a
11	chr7:149731742-149731792	T-47D	breast:	n/a
12	chr7:149731767-149731817	AG10803	skin:	n/a
13	chr7:149735729-149735779	SKMC	muscle:	n/a
14	chr7:149732579-149732629	GM19239	blood:	n/a
15	chr7:149738501-149738551	AG09309	skin:	n/a
16	chr7:149738473-149738523	HRCEpiC	kidney:	n/a
17	chr7:149734481-149734531	AG09319	gingival:	n/a
18	chr7:149735729-149735779	HAEpiC	amniotic membrane:	n/a
19	chr7:149735729-149735779	Hela-S3	cervix:	n/a
20	chr7:149734481-149734531	MCF-7	breast:	n/a
21	chr7:149738501-149738551	HNPCEpiC	eye:	n/a
22	chr7:149734481-149734531	SK-N-SH	brain:	n/a
23	chr7:149732847-149732897	GM12892	blood:	n/a
24	chr7:149731767-149731817	HepG2	liver:	n/a
25	chr7:149732579-149732629	ProgFib	skin:	n/a
26	chr7:149733821-149733871	HUVEC	blood vessel:	n/a
27	chr7:149731742-149731792	A549	lung:	n/a
28	chr7:149733103-149733153	SK-N-SH	brain:	n/a
29	chr7:149734481-149734531	T-47D	breast:	n/a
30	chr7:149731767-149731817	AG09309	skin:	n/a
31	chr7:149732579-149732629	HMEC	breast:	n/a
32	chr7:149738501-149738551	ECC-1	luminal epithelium:	n/a
33	chr7:149732847-149732897	A549	lung:	n/a
34	chr7:149731742-149731792	SK-N-SH_RA	brain:	n/a
35	chr7:149732579-149732629	Jurkat	blood:	n/a
36	chr7:149731767-149731817	T-47D	breast:	n/a
37	chr7:149736127-149736177	AG04450	lung:	fetal
38	chr7:149738473-149738523	ECC-1	luminal epithelium:	n/a
39	chr7:149736127-149736177	ProgFib	skin:	n/a
40	chr7:149736127-149736177	HMEC	breast:	n/a
41	chr7:149736127-149736177	GM06990	blood:	n/a
42	chr7:149731742-149731792	AG04450	lung:	fetal
43	chr7:149731742-149731792	SK-N-SH	brain:	n/a
44	chr7:149731742-149731792	NB4	blood:	n/a
45	chr7:149733821-149733871	SK-N-SH	brain:	n/a
46	chr7:149731742-149731792	HepG2	liver:	n/a
47	chr7:149734481-149734531	SK-N-SH_RA	brain:	n/a
48	chr7:149733821-149733871	HIPEpiC	eye:	n/a
49	chr7:149733821-149733871	NHDF-neo	bronchial:	n/a
50	chr7:149731742-149731792	GM12892	blood:	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	ENSG00000241449
2	lnc-ATP6V0E2-2	chr7:149738452-149738550	NONHSAT124091
3	lnc-ATP6V0E2-2	chr7:149732185-149732207	NONHSAT124087
4	lnc-ATP6V0E2-2	chr7:149737556-149737743	NONHSAT124091
5	lnc-ATP6V0E2-2	chr7:149737610-149737743	ENSG00000241449
6	lnc-ATP6V0E2-2	chr7:149735636-149735802	NONHSAT124088

No data

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

Extended variants
information (count: 1011 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1011 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530506971	chr7:149730820-149730821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550739767	chr7:149730832-149730833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567225581	chr7:149730840-149730841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529763972	chr7:149730842-149730843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113990567	chr7:149730844-149730845	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370819250	chr7:149730850-149730851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112675258	chr7:149730853-149730854	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566617601	chr7:149730854-149730855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202188388	chr7:149730857-149730858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538557647	chr7:149730865-149730866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201763252	chr7:149730885-149730886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552045465	chr7:149730888-149730889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549332342	chr7:149730901-149730902	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571355643	chr7:149730904-149730905	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537026367	chr7:149730924-149730925	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6956873	chr7:149730928-149730929	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6957004	chr7:149730949-149730950	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs28836593	chr7:149730953-149730954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557462871	chr7:149730956-149730957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571328462	chr7:149730971-149730972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538394746	chr7:149730981-149730982	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574066093	chr7:149730996-149730997	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536722274	chr7:149730997-149730998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145104161	chr7:149730998-149730999	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55648443	chr7:149731003-149731004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573433763	chr7:149731007-149731008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535827345	chr7:149731014-149731015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545754737	chr7:149731018-149731019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565572743	chr7:149731020-149731021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554856493	chr7:149731024-149731025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544208444	chr7:149731039-149731040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560914379	chr7:149731041-149731042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529758569	chr7:149731047-149731048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546636841	chr7:149731050-149731051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376404808	chr7:149731052-149731053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376356016	chr7:149731064-149731065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532172881	chr7:149731083-149731084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368858140	chr7:149731092-149731093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113453971	chr7:149731093-149731094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568796412	chr7:149731105-149731106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537712219	chr7:149731109-149731110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370086906	chr7:149731123-149731124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550719988	chr7:149731137-149731138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374406344	chr7:149731160-149731161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576298633	chr7:149731164-149731165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567603312	chr7:149731191-149731192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200290450	chr7:149731199-149731200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536355312	chr7:149731200-149731201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190459103	chr7:149731203-149731204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573521962	chr7:149731204-149731205	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:4 , 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	chr7:149730600-149731000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:149733000-149744000	Weak transcription	Right Atrium	heart
4	chr7:149737000-149737200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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