Variant report

Variant	esv33300
Chromosome Location	chr7:5882058-5886694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:5883193-5883252	GM13976	blood:	n/a	n/a
2	POLR2A	chr7:5885050-5885071	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:5886651-5886665	MCF-7	breast:	n/a	n/a
4	POLR2A	chr7:5886672-5886675	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:5885184-5885316	GM12878	blood:	n/a	n/a
6	USF1	chr7:5886487-5886618	HepG2	liver:	n/a	chr7:5886574-5886585
7	USF1	chr7:5886442-5886662	HepG2	liver:	n/a	chr7:5886574-5886585

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5885244-5885294	HUVEC	blood vessel:	n/a
2	chr7:5885244-5885294	BJ	skin:	n/a
3	chr7:5885244-5885294	HRPEpiC	eye:	n/a
4	chr7:5885244-5885294	CMK	blood:	n/a
5	chr7:5885244-5885294	PFSK-1	brain:	n/a
6	chr7:5885244-5885294	SK-N-SH	brain:	n/a
7	chr7:5885244-5885294	GM06990	blood:	n/a
8	chr7:5883645-5883695	HepG2	liver:	n/a
9	chr7:5885244-5885294	HCM	heart:	n/a
10	chr7:5883645-5883695	K562	blood:	n/a
11	chr7:5883645-5883695	SAEC	small airway:	n/a
12	chr7:5883645-5883695	GM06990	blood:	n/a
13	chr7:5883645-5883695	Jurkat	blood:	n/a
14	chr7:5883645-5883695	PrEC	prostate:	n/a
15	chr7:5883645-5883695	HCM	heart:	n/a
16	chr7:5885244-5885294	A549	lung:	n/a
17	chr7:5885244-5885294	IMR90	lung:	fetal
18	chr7:5885244-5885294	HPAEpiC	pulmonary alveolar:	n/a
19	chr7:5885244-5885294	AoSMC	blood vessel:	n/a
20	chr7:5883645-5883695	SK-N-SH	brain:	n/a
21	chr7:5883645-5883695	T-47D	breast:	n/a
22	chr7:5883645-5883695	ECC-1	luminal epithelium:	n/a
23	chr7:5883645-5883695	HMEC	breast:	n/a
24	chr7:5885244-5885294	H1-hESC	embryonic stem cell:	embryo
25	chr7:5883645-5883695	BJ	skin:	n/a
26	chr7:5885244-5885294	NT2-D1	testis:	n/a
27	chr7:5885244-5885294	NH-A	brain:	n/a
28	chr7:5883645-5883695	SKMC	muscle:	n/a
29	chr7:5885244-5885294	HCT-116	colon:	n/a
30	chr7:5885244-5885294	BE2_C	brain:	n/a
31	chr7:5883645-5883695	HRPEpiC	eye:	n/a
32	chr7:5883645-5883695	HAEpiC	amniotic membrane:	n/a
33	chr7:5885244-5885294	SK-N-SH_RA	brain:	n/a
34	chr7:5885244-5885294	AG09319	gingival:	n/a
35	chr7:5885244-5885294	T-47D	breast:	n/a
36	chr7:5885244-5885294	HL-60	blood:	n/a
37	chr7:5885244-5885294	HCF	heart:	n/a
38	chr7:5883645-5883695	AG09319	gingival:	n/a
39	chr7:5883645-5883695	GM19239	blood:	n/a
40	chr7:5885244-5885294	HAEpiC	amniotic membrane:	n/a
41	chr7:5883645-5883695	LNCaP	prostate:	n/a
42	chr7:5883645-5883695	SK-N-SH_RA	brain:	n/a
43	chr7:5883645-5883695	CMK	blood:	n/a
44	chr7:5883645-5883695	Hela-S3	cervix:	n/a
45	chr7:5885244-5885294	ovcar-3	ovarian:	n/a
46	chr7:5885244-5885294	PANC-1	pancreas:	n/a
47	chr7:5885244-5885294	LNCaP	prostate:	n/a
48	chr7:5883645-5883695	HNPCEpiC	eye:	n/a
49	chr7:5883645-5883695	NHDF-neo	bronchial:	n/a
50	chr7:5883645-5883695	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5875724..5878623-chr7:5880700..5882793,2	MCF-7	breast:
2	chr7:5877107..5878733-chr7:5880762..5883645,2	K562	blood:

No data

Variant related genes	Relation type
ZNF815P	TF binding region
ZNF815P	CpG island

Extended variants
information (count: 312 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35363040	chr7:5882066-5882067	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527730331	chr7:5882076-5882077	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531492180	chr7:5882095-5882096	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373524782	chr7:5882106-5882107	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549731964	chr7:5882154-5882155	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140341363	chr7:5882166-5882167	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570723003	chr7:5882210-5882211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150365462	chr7:5882222-5882223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17135835	chr7:5882223-5882224	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568707449	chr7:5882241-5882242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs55868281	chr7:5882247-5882248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576564569	chr7:5882259-5882260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556398921	chr7:5882289-5882290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145134767	chr7:5882339-5882340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190936258	chr7:5882355-5882356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535347723	chr7:5882364-5882365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547316460	chr7:5882393-5882394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375562040	chr7:5882413-5882414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572894494	chr7:5882444-5882445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539905138	chr7:5882445-5882446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558536883	chr7:5882446-5882447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544054233	chr7:5882452-5882453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149032068	chr7:5882454-5882455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576400163	chr7:5882465-5882466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544127436	chr7:5882471-5882472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562425451	chr7:5882473-5882474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370846421	chr7:5882482-5882483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542004681	chr7:5882485-5882486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183076016	chr7:5882488-5882489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527800801	chr7:5882494-5882495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138677050	chr7:5882539-5882540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375067162	chr7:5882540-5882541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142737022	chr7:5882541-5882542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs308095	chr7:5882543-5882544	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368067679	chr7:5882544-5882545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371494730	chr7:5882547-5882548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373977297	chr7:5882551-5882552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568770437	chr7:5882553-5882554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536111242	chr7:5882562-5882563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554351932	chr7:5882582-5882583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139206133	chr7:5882598-5882599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141545245	chr7:5882599-5882600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539088625	chr7:5882606-5882607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558345317	chr7:5882613-5882614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2240406	chr7:5882645-5882646	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs576061559	chr7:5882692-5882693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139426196	chr7:5882704-5882705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574393809	chr7:5882706-5882707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149557909	chr7:5882722-5882723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367841295	chr7:5882723-5882724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Schizophrenia	21346763	CNVD
Acute myeloid leukemia	21251322	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5863600-5896800	Weak transcription	Esophagus	oesophagus
2	chr7:5863800-5887000	Weak transcription	Primary B cells from cord blood	blood
3	chr7:5863800-5891400	Weak transcription	Liver	Liver
4	chr7:5863800-5891400	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:5863800-5896200	Weak transcription	Adipose Nuclei	Adipose
6	chr7:5864200-5893600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:5867600-5885000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:5871200-5882600	Weak transcription	Fetal Brain Male	brain
9	chr7:5871400-5890600	Weak transcription	Brain Germinal Matrix	brain
10	chr7:5871400-5904600	Weak transcription	Spleen	Spleen
11	chr7:5871600-5889200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:5871600-5891800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:5871600-5896400	Weak transcription	Fetal Brain Female	brain
14	chr7:5873200-5896200	Weak transcription	Lung	lung
15	chr7:5875400-5896600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:5876400-5896200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:5877400-5896200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:5877600-5891400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:5878200-5888200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:5878400-5886800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:5878600-5885400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:5878600-5885600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:5878600-5898000	Weak transcription	Brain Angular Gyrus	brain
24	chr7:5878800-5882200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:5878800-5889600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:5879000-5884600	Weak transcription	Brain Anterior Caudate	brain
27	chr7:5879200-5886200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:5879200-5886600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr7:5880400-5882400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr7:5880800-5885200	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:5881200-5883600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr7:5881400-5882800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:5881600-5882400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr7:5881600-5882400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:5881600-5882400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:5881600-5882600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:5881600-5882800	Strong transcription	Fetal Intestine Small	intestine
38	chr7:5881600-5883000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:5881600-5883000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:5881600-5885000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:5881600-5886000	Strong transcription	Primary T cells from cord blood	blood
42	chr7:5881800-5885600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr7:5882000-5890800	Weak transcription	Fetal Stomach	stomach
44	chr7:5882200-5890800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:5882400-5888400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:5882400-5896000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr7:5882400-5896200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr7:5882400-5897600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr7:5882600-5896200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:5882800-5896800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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