Variant report

Variant	nsv526391
Chromosome Location	chr7:85047858-85055666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:85055557-85056303	HepG2	liver:	n/a	n/a
2	CTCF	chr7:85053110-85053215	MCF-7	breast:	n/a	n/a
3	EP300	chr7:85055633-85056190	HepG2	liver:	n/a	n/a
4	EP300	chr7:85050386-85050549	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr7:85055625-85056366	HepG2	liver:	n/a	n/a
6	FAM48A	chr7:85052008-85052110	GM12878	blood:	n/a	n/a
7	FOXA1	chr7:85055639-85056241	HepG2	liver:	n/a	n/a
8	FOXA1	chr7:85055602-85056216	HepG2	liver:	n/a	n/a
9	FOXA1	chr7:85055623-85056241	HepG2	liver:	n/a	n/a
10	FOXA2	chr7:85055665-85056226	HepG2	liver:	n/a	n/a
11	HNF4A	chr7:85055617-85056586	HepG2	liver:	n/a	n/a
12	JUN	chr7:85055465-85056230	HepG2	liver:	n/a	n/a
13	JUND	chr7:85055624-85056383	HepG2	liver:	n/a	n/a
14	MAFF	chr7:85053568-85053789	HepG2	liver:	n/a	n/a
15	MAFF	chr7:85051294-85051494	HepG2	liver:	n/a	n/a
16	MAFK	chr7:85053582-85053821	HepG2	liver:	n/a	n/a
17	MAFK	chr7:85053671-85053730	HepG2	liver:	n/a	n/a
18	MAZ	chr7:85055478-85056112	HepG2	liver:	n/a	n/a
19	MYBL2	chr7:85055645-85056232	HepG2	liver:	n/a	n/a
20	MYC	chr7:85048381-85048425	MCF-7	breast:	n/a	n/a
21	NFYB	chr7:85051388-85051588	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:85053751-85053933	MCF-7	breast:	n/a	n/a
23	POLR2A	chr7:85052805-85053232	MCF-7	breast:	n/a	n/a
24	POLR2A	chr7:85055598-85057330	HepG2	liver:	n/a	n/a
25	RFX5	chr7:85055654-85056358	HepG2	liver:	n/a	n/a
26	SP1	chr7:85055664-85056192	HepG2	liver:	n/a	n/a
27	STAT3	chr7:85055638-85055730	MCF10A-Er-Src	breast:	n/a	n/a
28	TEAD4	chr7:85055562-85056220	HepG2	liver:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRM3-1	chr7:85050438-85050574	XLOC_006160

No data

Variant related genes	Relation type
LINC00972	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537916734	chr7:85048416-85048417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs556239023	chr7:85048424-85048425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs146582244	chr7:85049927-85049928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183627777	chr7:85049955-85049956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138777490	chr7:85049960-85049961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572035332	chr7:85049965-85049966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545762183	chr7:85050006-85050007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141342327	chr7:85050021-85050022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368612418	chr7:85050048-85050049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113111916	chr7:85050067-85050068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576415251	chr7:85050090-85050091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547481133	chr7:85050179-85050180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7798105	chr7:85050186-85050187	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532963541	chr7:85050190-85050191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2115744	chr7:85050210-85050211	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147007450	chr7:85050247-85050248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530693726	chr7:85050357-85050358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6465002	chr7:85050389-85050390	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548040708	chr7:85050430-85050431	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs148072706	chr7:85050508-85050509	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs185782582	chr7:85050528-85050529	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs534476016	chr7:85050533-85050534	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs190243959	chr7:85050534-85050535	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs574659087	chr7:85050558-85050559	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs182417349	chr7:85050667-85050668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186724734	chr7:85050729-85050730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192142439	chr7:85050769-85050770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184088384	chr7:85050779-85050780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188937193	chr7:85050856-85050857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560062034	chr7:85050877-85050878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200792068	chr7:85050878-85050879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397889911	chr7:85050887-85050888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6970185	chr7:85050934-85050935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565132591	chr7:85052806-85052807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113805361	chr7:85052812-85052813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532370210	chr7:85052823-85052824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550758514	chr7:85052858-85052859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563002554	chr7:85052880-85052881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530193564	chr7:85052951-85052952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1975077	chr7:85052975-85052976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs113829945	chr7:85053011-85053012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568632640	chr7:85053037-85053038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548607233	chr7:85053044-85053045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566742960	chr7:85053058-85053059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534155885	chr7:85053151-85053152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543488567	chr7:85053162-85053163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552597013	chr7:85053192-85053193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369001702	chr7:85053250-85053251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538084625	chr7:85053306-85053307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556318025	chr7:85053330-85053331	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85049800-85051000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:85052800-85053600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:85055000-85056200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:85055000-85057200	Enhancers	HepG2	liver
5	chr7:85055600-85056000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:85055600-85056200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:85055600-85056400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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