Variant report

Variant	esv3340641
Chromosome Location	chr7:87343816-87345864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:87344877-87345209	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:87344845-87345227	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:87344904-87345088	HepG2	liver:	n/a	n/a
4	CTCF	chr7:87344046-87344152	GM20000	blood:	n/a	n/a
5	FOXA1	chr7:87344838-87345079	HepG2	liver:	n/a	n/a
6	FOXA1	chr7:87344866-87345139	HepG2	liver:	n/a	n/a
7	FOXA1	chr7:87344901-87345168	HepG2	liver:	n/a	n/a
8	FOXA2	chr7:87344882-87345121	HepG2	liver:	n/a	n/a
9	MYC	chr7:87344199-87344221	MCF-7	breast:	n/a	n/a
10	MYC	chr7:87344222-87344251	MCF-7	breast:	n/a	n/a
11	MYC	chr7:87344205-87344279	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:87344181-87344310	MCF-7	breast:	n/a	n/a
13	POLR2A	chr7:87344474-87344630	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:87343956-87344006	HCPEpiC	choroid plexus:	n/a
2	chr7:87343956-87344006	HIPEpiC	eye:	n/a
3	chr7:87343956-87344006	PrEC	prostate:	n/a
4	chr7:87343956-87344006	HCF	heart:	n/a
5	chr7:87343956-87344006	HepG2	liver:	n/a
6	chr7:87343956-87344006	HCM	heart:	n/a
7	chr7:87343956-87344006	Jurkat	blood:	n/a
8	chr7:87343956-87344006	HMEC	breast:	n/a
9	chr7:87343956-87344006	HEK293	kidney:	embryo
10	chr7:87343956-87344006	HNPCEpiC	eye:	n/a
11	chr7:87343956-87344006	NT2-D1	testis:	n/a
12	chr7:87343956-87344006	SK-N-SH_RA	brain:	n/a
13	chr7:87343956-87344006	GM12878	blood:	n/a
14	chr7:87343956-87344006	GM12891	blood:	n/a
15	chr7:87343956-87344006	NB4	blood:	n/a
16	chr7:87343956-87344006	Hela-S3	cervix:	n/a
17	chr7:87343956-87344006	T-47D	breast:	n/a
18	chr7:87343956-87344006	H1-hESC	embryonic stem cell:	embryo
19	chr7:87343956-87344006	CMK	blood:	n/a
20	chr7:87343956-87344006	NHDF-neo	bronchial:	n/a
21	chr7:87343956-87344006	AG04449	skin:	fetal
22	chr7:87343956-87344006	Caco-2	colon:	n/a
23	chr7:87343956-87344006	ProgFib	skin:	n/a
24	chr7:87343956-87344006	IMR90	lung:	fetal
25	chr7:87343956-87344006	BJ	skin:	n/a
26	chr7:87343956-87344006	A549	lung:	n/a
27	chr7:87343956-87344006	NHBE	bronchial:	n/a
28	chr7:87343956-87344006	U87	brain:	n/a
29	chr7:87343956-87344006	AG04450	lung:	fetal
30	chr7:87343956-87344006	SK-N-SH	brain:	n/a
31	chr7:87343956-87344006	Hepatocyte	liver:	n/a
32	chr7:87343956-87344006	AG09319	gingival:	n/a
33	chr7:87343956-87344006	PANC-1	pancreas:	n/a
34	chr7:87343956-87344006	SKMC	muscle:	n/a
35	chr7:87343956-87344006	BE2_C	brain:	n/a
36	chr7:87343956-87344006	MCF10A-Er-Src	breast:	n/a
37	chr7:87343956-87344006	MCF-7	breast:	n/a
38	chr7:87343956-87344006	GM19239	blood:	n/a
39	chr7:87343956-87344006	HCT-116	colon:	n/a
40	chr7:87343956-87344006	HAEpiC	amniotic membrane:	n/a
41	chr7:87343956-87344006	NH-A	brain:	n/a
42	chr7:87343956-87344006	HUVEC	blood vessel:	n/a
43	chr7:87343956-87344006	K562	blood:	n/a
44	chr7:87343956-87344006	RPTEC	kidney:	n/a
45	chr7:87343956-87344006	AoSMC	blood vessel:	n/a
46	chr7:87343956-87344006	GM06990	blood:	n/a
47	chr7:87343956-87344006	HRPEpiC	eye:	n/a
48	chr7:87343956-87344006	SAEC	small airway:	n/a
49	chr7:87343956-87344006	ovcar-3	ovarian:	n/a
50	chr7:87343956-87344006	HRE	kidney:	n/a

No data

Variant related genes	Relation type
ABCB1	TF binding region
ABCB1	CpG island

Extended variants
information (count: 94 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527280356	chr7:87343851-87343852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555095716	chr7:87343855-87343856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199473696	chr7:87343883-87343884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534373566	chr7:87343908-87343909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150397575	chr7:87343980-87343981	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs570173570	chr7:87343981-87343982	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs184881679	chr7:87343982-87343983	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs189757325	chr7:87343991-87343992	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs35901799	chr7:87344022-87344023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28373093	chr7:87344023-87344024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11972683	chr7:87344049-87344050	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535422003	chr7:87344061-87344062	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs559800584	chr7:87344073-87344074	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs28746483	chr7:87344083-87344084	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs527498575	chr7:87344090-87344091	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs28746482	chr7:87344091-87344092	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs28746481	chr7:87344104-87344105	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs28746480	chr7:87344128-87344129	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs531592788	chr7:87344145-87344146	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs375206800	chr7:87344201-87344202	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs369377720	chr7:87344203-87344204	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs185287707	chr7:87344205-87344206	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs28381710	chr7:87344206-87344207	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs549795303	chr7:87344224-87344225	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs569279874	chr7:87344244-87344245	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs189359987	chr7:87344245-87344246	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs558290951	chr7:87344262-87344263	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs566946148	chr7:87344288-87344289	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs10232449	chr7:87344350-87344351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs181948604	chr7:87344375-87344376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10261685	chr7:87344418-87344419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577358954	chr7:87344455-87344456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185122525	chr7:87344518-87344519	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs555303593	chr7:87344553-87344554	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs556559535	chr7:87344590-87344591	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs10248345	chr7:87344608-87344609	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs28518771	chr7:87344613-87344614	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs28444383	chr7:87344637-87344638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562764545	chr7:87344648-87344649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541391943	chr7:87344670-87344671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7791440	chr7:87344676-87344677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7808045	chr7:87344677-87344678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560102693	chr7:87344682-87344683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181034572	chr7:87344685-87344686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201850000	chr7:87344738-87344739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4728711	chr7:87344744-87344745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571586470	chr7:87344771-87344772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199704465	chr7:87344790-87344791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199718071	chr7:87344833-87344834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571761756	chr7:87344844-87344845	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myxofibrosarcoma	20639860	CNVD
Prostate cancer	22341455	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87332600-87360000	Weak transcription	Liver	Liver
2	chr7:87345400-87345800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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