Variant report

Variant	esv3364698
Chromosome Location	chr7:149730419-149734317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:149730399-149730508	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr7:149731012-149731132	Kidney_OC	kidney:	n/a	n/a
3	POLR2A	chr7:149732085-149732595	K562	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149731742-149731792	GM12878	blood:	n/a
2	chr7:149733103-149733153	HepG2	liver:	n/a
3	chr7:149733103-149733153	Jurkat	blood:	n/a
4	chr7:149731742-149731792	LNCaP	prostate:	n/a
5	chr7:149733821-149733871	H1-hESC	embryonic stem cell:	embryo
6	chr7:149733821-149733871	HMEC	breast:	n/a
7	chr7:149733103-149733153	PANC-1	pancreas:	n/a
8	chr7:149733821-149733871	Caco-2	colon:	n/a
9	chr7:149733821-149733871	HPAEpiC	pulmonary alveolar:	n/a
10	chr7:149732579-149732629	PFSK-1	brain:	n/a
11	chr7:149731742-149731792	K562	blood:	n/a
12	chr7:149732579-149732629	A549	lung:	n/a
13	chr7:149731767-149731817	LNCaP	prostate:	n/a
14	chr7:149731767-149731817	IMR90	lung:	fetal
15	chr7:149732847-149732897	AG04450	lung:	fetal
16	chr7:149733103-149733153	GM12878	blood:	n/a
17	chr7:149733103-149733153	HNPCEpiC	eye:	n/a
18	chr7:149733821-149733871	HCPEpiC	choroid plexus:	n/a
19	chr7:149732847-149732897	H1-hESC	embryonic stem cell:	embryo
20	chr7:149732847-149732897	U87	brain:	n/a
21	chr7:149733821-149733871	GM19239	blood:	n/a
22	chr7:149732579-149732629	K562	blood:	n/a
23	chr7:149733103-149733153	HRE	kidney:	n/a
24	chr7:149732847-149732897	HEK293	kidney:	embryo
25	chr7:149731767-149731817	T-47D	breast:	n/a
26	chr7:149732847-149732897	HUVEC	blood vessel:	n/a
27	chr7:149732847-149732897	LNCaP	prostate:	n/a
28	chr7:149731767-149731817	PrEC	prostate:	n/a
29	chr7:149731742-149731792	AoSMC	blood vessel:	n/a
30	chr7:149733103-149733153	HPAEpiC	pulmonary alveolar:	n/a
31	chr7:149732847-149732897	PANC-1	pancreas:	n/a
32	chr7:149732579-149732629	HAEpiC	amniotic membrane:	n/a
33	chr7:149732579-149732629	AG04450	lung:	fetal
34	chr7:149731742-149731792	HUVEC	blood vessel:	n/a
35	chr7:149732579-149732629	CMK	blood:	n/a
36	chr7:149732847-149732897	GM19239	blood:	n/a
37	chr7:149731767-149731817	HRPEpiC	eye:	n/a
38	chr7:149733103-149733153	SK-N-SH_RA	brain:	n/a
39	chr7:149733103-149733153	HCPEpiC	choroid plexus:	n/a
40	chr7:149732847-149732897	BJ	skin:	n/a
41	chr7:149732847-149732897	HCM	heart:	n/a
42	chr7:149733103-149733153	NB4	blood:	n/a
43	chr7:149732847-149732897	SK-N-SH	brain:	n/a
44	chr7:149732579-149732629	Caco-2	colon:	n/a
45	chr7:149731767-149731817	HEK293	kidney:	embryo
46	chr7:149732847-149732897	HIPEpiC	eye:	n/a
47	chr7:149732847-149732897	PrEC	prostate:	n/a
48	chr7:149732579-149732629	HCT-116	colon:	n/a
49	chr7:149732579-149732629	T-47D	breast:	n/a
50	chr7:149732847-149732897	SAEC	small airway:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V0E2-2	chr7:149732185-149732207	NONHSAT124087

No data

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

Extended variants
information (count: 521 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543466763	chr7:149730451-149730452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2626809	chr7:149730455-149730456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529456694	chr7:149730462-149730463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200575395	chr7:149730471-149730472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145829879	chr7:149730484-149730485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559773947	chr7:149730534-149730535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371361883	chr7:149730540-149730541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374799387	chr7:149730543-149730544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138769255	chr7:149730547-149730548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551412175	chr7:149730550-149730551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531819580	chr7:149730551-149730552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530624217	chr7:149730555-149730556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7808224	chr7:149730558-149730559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200142065	chr7:149730593-149730594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143208622	chr7:149730624-149730625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2626810	chr7:149730627-149730628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532462852	chr7:149730632-149730633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566671495	chr7:149730638-149730639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538520674	chr7:149730663-149730664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148705018	chr7:149730682-149730683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577576980	chr7:149730699-149730700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371834002	chr7:149730704-149730705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375221415	chr7:149730705-149730706	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35364549	chr7:149730715-149730716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369788708	chr7:149730720-149730721	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117191732	chr7:149730734-149730735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543552501	chr7:149730739-149730740	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557032070	chr7:149730740-149730741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574204775	chr7:149730742-149730743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180736854	chr7:149730745-149730746	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559863157	chr7:149730746-149730747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370654353	chr7:149730751-149730752	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565989424	chr7:149730765-149730766	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528802803	chr7:149730771-149730772	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375840944	chr7:149730778-149730779	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368854190	chr7:149730779-149730780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185888840	chr7:149730781-149730782	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545668762	chr7:149730792-149730793	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564881348	chr7:149730795-149730796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190035994	chr7:149730798-149730799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373095968	chr7:149730801-149730802	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376391144	chr7:149730816-149730817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530506971	chr7:149730820-149730821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550739767	chr7:149730832-149730833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567225581	chr7:149730840-149730841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529763972	chr7:149730842-149730843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113990567	chr7:149730844-149730845	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370819250	chr7:149730850-149730851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112675258	chr7:149730853-149730854	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566617601	chr7:149730854-149730855	ZNF genes & repeats 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	chr7:149729600-149730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:149730200-149744000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:149730600-149731000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:149733000-149744000	Weak transcription	Right Atrium	heart

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