Variant report

Variant	nsv508472
Chromosome Location	chr7:96474696-96491567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:96486956-96487015	K562	blood:	n/a	n/a
2	CEBPB	chr7:96489541-96489582	A549	lung:	n/a	n/a
3	CEBPB	chr7:96485085-96485322	HepG2	liver:	n/a	chr7:96485207-96485218
4	CTCF	chr7:96490360-96490510	BE2_C	brain:	n/a	n/a
5	CTCF	chr7:96489473-96489541	GM13977	blood:	n/a	n/a
6	FOXA2	chr7:96481341-96481882	A549	lung:	n/a	n/a
7	FOXA2	chr7:96484012-96484248	HepG2	liver:	n/a	n/a
8	FOXA2	chr7:96481379-96481708	A549	lung:	n/a	n/a
9	MAFK	chr7:96485242-96485280	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:96488760-96488805	A549	lung:	n/a	n/a
11	REST	chr7:96490626-96490768	Hela-S3	cervix:	n/a	n/a
12	SPI1	chr7:96477688-96478172	GM12878	blood:	n/a	n/a
13	TAF7	chr7:96484167-96484316	K562	blood:	n/a	n/a
14	TBP	chr7:96484239-96484409	K562	blood:	n/a	n/a
15	TCF7L2	chr7:96484295-96484856	HEK293	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:96483662-96483712	Hepatocyte	liver:	n/a
2	chr7:96483662-96483712	HepG2	liver:	n/a
3	chr7:96483662-96483712	BE2_C	brain:	n/a
4	chr7:96483662-96483712	HNPCEpiC	eye:	n/a
5	chr7:96483662-96483712	AG09319	gingival:	n/a
6	chr7:96483662-96483712	PANC-1	pancreas:	n/a
7	chr7:96483662-96483712	NHBE	bronchial:	n/a
8	chr7:96483662-96483712	HRPEpiC	eye:	n/a
9	chr7:96483662-96483712	ProgFib	skin:	n/a
10	chr7:96483662-96483712	H1-hESC	embryonic stem cell:	embryo
11	chr7:96483662-96483712	HCM	heart:	n/a
12	chr7:96483662-96483712	LNCaP	prostate:	n/a
13	chr7:96483662-96483712	SK-N-MC	brain:	n/a
14	chr7:96483662-96483712	U87	brain:	n/a
15	chr7:96483662-96483712	HPAEpiC	pulmonary alveolar:	n/a
16	chr7:96483662-96483712	NT2-D1	testis:	n/a
17	chr7:96483662-96483712	SK-N-SH	brain:	n/a
18	chr7:96483662-96483712	GM19239	blood:	n/a
19	chr7:96483662-96483712	GM12892	blood:	n/a
20	chr7:96483662-96483712	BJ	skin:	n/a
21	chr7:96483662-96483712	HEEpiC	esophagus:	n/a
22	chr7:96483662-96483712	ovcar-3	ovarian:	n/a
23	chr7:96483662-96483712	NH-A	brain:	n/a
24	chr7:96483662-96483712	PrEC	prostate:	n/a
25	chr7:96483662-96483712	T-47D	breast:	n/a
26	chr7:96483662-96483712	K562	blood:	n/a
27	chr7:96483662-96483712	CMK	blood:	n/a
28	chr7:96483662-96483712	AG09309	skin:	n/a
29	chr7:96483662-96483712	HIPEpiC	eye:	n/a
30	chr7:96483662-96483712	SAEC	small airway:	n/a
31	chr7:96483662-96483712	PFSK-1	brain:	n/a
32	chr7:96483662-96483712	NB4	blood:	n/a
33	chr7:96483662-96483712	HCT-116	colon:	n/a
34	chr7:96483662-96483712	MCF10A-Er-Src	breast:	n/a
35	chr7:96483662-96483712	SKMC	muscle:	n/a
36	chr7:96483662-96483712	A549	lung:	n/a
37	chr7:96483662-96483712	HCPEpiC	choroid plexus:	n/a
38	chr7:96483662-96483712	ECC-1	luminal epithelium:	n/a
39	chr7:96483662-96483712	AoSMC	blood vessel:	n/a
40	chr7:96483662-96483712	MCF-7	breast:	n/a
41	chr7:96483662-96483712	HUVEC	blood vessel:	n/a
42	chr7:96483662-96483712	SK-N-SH_RA	brain:	n/a
43	chr7:96483662-96483712	NHDF-neo	bronchial:	n/a
44	chr7:96483662-96483712	Caco-2	colon:	n/a
45	chr7:96483662-96483712	HCF	heart:	n/a
46	chr7:96483662-96483712	Hela-S3	cervix:	n/a
47	chr7:96483662-96483712	AG04449	skin:	fetal
48	chr7:96483662-96483712	Jurkat	blood:	n/a
49	chr7:96483662-96483712	HRCEpiC	kidney:	n/a
50	chr7:96483662-96483712	HMEC	breast:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:96473083..96476010-chr7:96482682..96485380,3	K562	blood:
2	chr7:96473083..96476010-chr7:96482682..96485380,3	K562	blood:

No data

Variant related genes	Relation type
MARK2P10	TF binding region
MARK2P10	CpG island

Extended variants
information (count: 72 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145566396	chr7:96484036-96484037	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs148470769	chr7:96484053-96484054	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs545538488	chr7:96484098-96484099	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs60799465	chr7:96484113-96484114	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs565488870	chr7:96484118-96484119	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531227888	chr7:96484121-96484122	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs186722588	chr7:96484123-96484124	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs567300107	chr7:96484138-96484139	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs146999451	chr7:96484159-96484160	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs546698693	chr7:96484167-96484168	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs147662054	chr7:96484190-96484191	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs538455780	chr7:96484224-96484225	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs538502839	chr7:96484231-96484232	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs558706568	chr7:96484275-96484276	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs569089487	chr7:96484289-96484290	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs376033995	chr7:96484290-96484291	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs538118424	chr7:96484293-96484294	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs540943143	chr7:96484357-96484358	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs189501934	chr7:96484358-96484359	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs181181585	chr7:96484492-96484493	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs540198269	chr7:96484499-96484500	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs553909689	chr7:96484561-96484562	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs367756368	chr7:96484573-96484574	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs186021398	chr7:96484586-96484587	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs1522527	chr7:96484605-96484606	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs189690392	chr7:96484629-96484630	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs561106796	chr7:96484648-96484649	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs544526593	chr7:96484658-96484659	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs183381552	chr7:96484702-96484703	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs7785299	chr7:96484741-96484742	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146396857	chr7:96484744-96484745	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs562278305	chr7:96484787-96484788	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs554234334	chr7:96484852-96484853	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs367908040	chr7:96484856-96484857	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs566663353	chr7:96484885-96484886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532621252	chr7:96484898-96484899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7456227	chr7:96484929-96484930	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569052250	chr7:96484933-96484934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186438906	chr7:96484971-96484972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558832332	chr7:96484978-96484979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554914465	chr7:96484984-96484985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375664043	chr7:96485005-96485006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78019226	chr7:96485046-96485047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533820180	chr7:96485116-96485117	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs2894073	chr7:96485117-96485118	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs576900226	chr7:96485141-96485142	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs190808410	chr7:96485167-96485168	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555957803	chr7:96485209-96485210	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs375254594	chr7:96485230-96485231	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs113531265	chr7:96485246-96485247	Enhancers	TF binding region	1 gene(s)	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
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
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
lymphocytic leukemia	21291569	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
abnormal development	18461090	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96484000-96484800	Enhancers	HepG2	liver
2	chr7:96484000-96485200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:96484400-96485400	Enhancers	Adipose Nuclei	Adipose
4	chr7:96484600-96485000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:96484600-96485800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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