Variant report

Variant	nsv606029
Chromosome Location	chr7:7021042-7081413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:372)
CpG islands
(count:429)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:7035158-7035426	K562	blood:	n/a	n/a
2	ARID3A	chr7:7057749-7057838	K562	blood:	n/a	n/a
3	ATF1	chr7:7030191-7030411	K562	blood:	n/a	n/a
4	ATF1	chr7:7035234-7035465	K562	blood:	n/a	n/a
5	BACH1	chr7:7030692-7031091	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr7:7030101-7030522	GM12878	blood:	n/a	n/a
7	BATF	chr7:7030120-7030540	GM12878	blood:	n/a	n/a
8	BATF	chr7:7026562-7026953	GM12878	blood:	n/a	n/a
9	BATF	chr7:7026518-7026935	GM12878	blood:	n/a	n/a
10	BATF	chr7:7036191-7036435	GM12878	blood:	n/a	n/a
11	BCL11A	chr7:7030103-7030575	GM12878	blood:	n/a	n/a
12	BCL11A	chr7:7030165-7030615	GM12878	blood:	n/a	n/a
13	BCL11A	chr7:7026555-7026940	GM12878	blood:	n/a	n/a
14	BCL11A	chr7:7023396-7023703	GM12878	blood:	n/a	n/a
15	BCL11A	chr7:7026425-7027000	GM12878	blood:	n/a	chr7:7026960-7026969
16	BHLHE40	chr7:7030667-7031069	GM12878	blood:	n/a	n/a
17	BHLHE40	chr7:7030675-7031056	HepG2	liver:	n/a	n/a
18	BHLHE40	chr7:7030288-7030351	GM12878	blood:	n/a	n/a
19	BHLHE40	chr7:7026567-7026738	GM12878	blood:	n/a	n/a
20	BHLHE40	chr7:7030675-7031050	K562	blood:	n/a	n/a
21	CBX3	chr7:7035202-7035848	K562	blood:	n/a	n/a
22	CBX3	chr7:7030732-7031655	K562	blood:	n/a	n/a
23	CBX3	chr7:7038679-7039319	K562	blood:	n/a	n/a
24	CBX3	chr7:7038631-7039377	K562	blood:	n/a	n/a
25	CEBPB	chr7:7035276-7035460	K562	blood:	n/a	n/a
26	CEBPB	chr7:7073792-7074119	K562	blood:	n/a	chr7:7073937-7073948
27	CEBPB	chr7:7073879-7074082	Hela-S3	cervix:	n/a	chr7:7073937-7073948
28	CEBPB	chr7:7060007-7060207	IMR90	lung:	n/a	n/a
29	CEBPB	chr7:7035031-7035787	K562	blood:	n/a	n/a
30	CEBPB	chr7:7061343-7061531	HepG2	liver:	n/a	chr7:7061421-7061432
31	CEBPB	chr7:7061335-7061450	K562	blood:	n/a	chr7:7061421-7061432
32	CEBPB	chr7:7057458-7057830	MCF-7	breast:	n/a	n/a
33	CEBPB	chr7:7035274-7035571	K562	blood:	n/a	n/a
34	CEBPB	chr7:7078909-7079166	A549	lung:	n/a	chr7:7078921-7078932 chr7:7079074-7079085 chr7:7078921-7078932
35	CEBPB	chr7:7073799-7074131	K562	blood:	n/a	chr7:7073937-7073948
36	CEBPB	chr7:7033910-7033985	K562	blood:	n/a	n/a
37	CEBPB	chr7:7057056-7057130	HepG2	liver:	n/a	chr7:7057118-7057129 chr7:7057085-7057096
38	CEBPB	chr7:7073889-7074041	HepG2	liver:	n/a	chr7:7073937-7073948
39	CEBPB	chr7:7056982-7057251	A549	lung:	n/a	chr7:7057118-7057129 chr7:7057085-7057096
40	CEBPB	chr7:7076099-7076292	A549	lung:	n/a	n/a
41	CEBPB	chr7:7065338-7065376	HepG2	liver:	n/a	chr7:7065356-7065367
42	CEBPB	chr7:7073895-7074004	A549	lung:	n/a	chr7:7073937-7073948
43	CEBPB	chr7:7073802-7074058	H1-hESC	embryonic stem cell:	n/a	chr7:7073937-7073948
44	CEBPB	chr7:7078904-7079160	HepG2	liver:	n/a	chr7:7078921-7078932 chr7:7079074-7079085 chr7:7078921-7078932
45	CEBPB	chr7:7076141-7076340	K562	blood:	n/a	n/a
46	CEBPB	chr7:7065336-7065376	A549	lung:	n/a	chr7:7065356-7065367
47	CEBPB	chr7:7078917-7079198	K562	blood:	n/a	chr7:7078921-7078932 chr7:7079074-7079085 chr7:7078921-7078932
48	CEBPB	chr7:7028189-7028453	K562	blood:	n/a	n/a
49	CEBPD	chr7:7028090-7028512	K562	blood:	n/a	n/a
50	CEBPD	chr7:7034977-7035558	K562	blood:	n/a	n/a

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:7034759-7034809	HUVEC	blood vessel:	n/a
2	chr7:7034818-7034868	GM12891	blood:	n/a
3	chr7:7034759-7034809	HUVEC	blood vessel:	n/a
4	chr7:7034818-7034868	GM12891	blood:	n/a
5	chr7:7034818-7034868	H1-hESC	embryonic stem cell:	embryo
6	chr7:7031200-7031250	HEEpiC	esophagus:	n/a
7	chr7:7034759-7034809	GM12878	blood:	n/a
8	chr7:7031200-7031250	PANC-1	pancreas:	n/a
9	chr7:7031200-7031250	HNPCEpiC	eye:	n/a
10	chr7:7031959-7032009	K562	blood:	n/a
11	chr7:7031959-7032009	ovcar-3	ovarian:	n/a
12	chr7:7031200-7031250	HCM	heart:	n/a
13	chr7:7034759-7034809	HL-60	blood:	n/a
14	chr7:7031959-7032009	NB4	blood:	n/a
15	chr7:7034759-7034809	SK-N-SH_RA	brain:	n/a
16	chr7:7032174-7032224	NH-A	brain:	n/a
17	chr7:7031197-7031247	SAEC	small airway:	n/a
18	chr7:7031197-7031247	BJ	skin:	n/a
19	chr7:7032174-7032224	AG09309	skin:	n/a
20	chr7:7031959-7032009	SAEC	small airway:	n/a
21	chr7:7031200-7031250	Hepatocyte	liver:	n/a
22	chr7:7032174-7032224	HCPEpiC	choroid plexus:	n/a
23	chr7:7034818-7034868	T-47D	breast:	n/a
24	chr7:7034759-7034809	SKMC	muscle:	n/a
25	chr7:7034818-7034868	NHBE	bronchial:	n/a
26	chr7:7034818-7034868	AG10803	skin:	n/a
27	chr7:7031959-7032009	MCF10A-Er-Src	breast:	n/a
28	chr7:7034759-7034809	HAEpiC	amniotic membrane:	n/a
29	chr7:7034759-7034809	IMR90	lung:	fetal
30	chr7:7031197-7031247	Jurkat	blood:	n/a
31	chr7:7034818-7034868	IMR90	lung:	fetal
32	chr7:7031200-7031250	HPAEpiC	pulmonary alveolar:	n/a
33	chr7:7034818-7034868	SK-N-SH	brain:	n/a
34	chr7:7031959-7032009	HRCEpiC	kidney:	n/a
35	chr7:7034818-7034868	HNPCEpiC	eye:	n/a
36	chr7:7031197-7031247	NH-A	brain:	n/a
37	chr7:7034818-7034868	BE2_C	brain:	n/a
38	chr7:7031200-7031250	U87	brain:	n/a
39	chr7:7034864-7034914	Hela-S3	cervix:	n/a
40	chr7:7031959-7032009	HAEpiC	amniotic membrane:	n/a
41	chr7:7034864-7034914	SK-N-SH	brain:	n/a
42	chr7:7031959-7032009	GM12891	blood:	n/a
43	chr7:7034864-7034914	AoSMC	blood vessel:	n/a
44	chr7:7032174-7032224	GM19239	blood:	n/a
45	chr7:7034759-7034809	PrEC	prostate:	n/a
46	chr7:7034818-7034868	HRE	kidney:	n/a
47	chr7:7034818-7034868	PANC-1	pancreas:	n/a
48	chr7:7034759-7034809	HIPEpiC	eye:	n/a
49	chr7:7031200-7031250	NH-A	brain:	n/a
50	chr7:7034818-7034868	AG04450	lung:	fetal

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:7075155..7077103-chr7:7078870..7080838,2	K562	blood:
2	chr7:7039931..7042582-chr7:7043359..7045821,2	K562	blood:
3	chr7:7071081..7073048-chr7:7074220..7077008,2	K562	blood:
4	chr7:7075155..7077103-chr7:7078870..7080838,2	K562	blood:
5	chr7:7053634..7055657-chr7:7056741..7058413,2	MCF-7	breast:
6	chr7:7053634..7055657-chr7:7056741..7058413,2	MCF-7	breast:
7	chr7:7071081..7073048-chr7:7074220..7077008,2	K562	blood:
8	chr7:7074211..7076243-chr7:7083711..7086454,2	K562	blood:
9	chr7:7074008..7077103-chr7:7078870..7082330,3	K562	blood:
10	chr7:7039931..7042582-chr7:7043359..7045821,2	K562	blood:
11	chr7:7074008..7077103-chr7:7078870..7082330,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221011	TF binding region
ENSG00000221011	CpG island

Extended variants
information (count: 2824 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:2824 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538028088	chr7:7026008-7026009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115761415	chr7:7026012-7026013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114199005	chr7:7026014-7026015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201026267	chr7:7026027-7026028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563710139	chr7:7026035-7026036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530784250	chr7:7026054-7026055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549337689	chr7:7026071-7026072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568299748	chr7:7026084-7026085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144254373	chr7:7026094-7026095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200077083	chr7:7026097-7026098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201380659	chr7:7026100-7026101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201841202	chr7:7026110-7026111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547660742	chr7:7026130-7026131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369411955	chr7:7026138-7026139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199610526	chr7:7026144-7026145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10952013	chr7:7026152-7026153	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs374941461	chr7:7026162-7026163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576006895	chr7:7026171-7026172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201198180	chr7:7026176-7026177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199811336	chr7:7026177-7026178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111856210	chr7:7026180-7026181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555324302	chr7:7026184-7026185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527751846	chr7:7026201-7026202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574291745	chr7:7026202-7026203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372567433	chr7:7026204-7026205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80012880	chr7:7026214-7026215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10952014	chr7:7026245-7026246	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs147475871	chr7:7026252-7026253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199854726	chr7:7026253-7026254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113045917	chr7:7026254-7026255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369055824	chr7:7026262-7026263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577774427	chr7:7026265-7026266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545113856	chr7:7026308-7026309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201046041	chr7:7026323-7026324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201821111	chr7:7026327-7026328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563659209	chr7:7026329-7026330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182108574	chr7:7026338-7026339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549151106	chr7:7026340-7026341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561333081	chr7:7026344-7026345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62440889	chr7:7026354-7026355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs113446230	chr7:7026383-7026384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186400375	chr7:7026388-7026389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565895974	chr7:7026389-7026390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539612427	chr7:7026393-7026394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139680036	chr7:7026399-7026400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75129016	chr7:7026447-7026448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75876954	chr7:7026449-7026450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10252358	chr7:7026463-7026464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537142335	chr7:7026476-7026477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150983152	chr7:7026478-7026479	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7026000-7026800	Enhancers	K562	blood
2	chr7:7026400-7026800	Enhancers	GM12878-XiMat	blood
3	chr7:7026800-7027800	Weak transcription	K562	blood
4	chr7:7027800-7028000	Enhancers	Fetal Lung	lung
5	chr7:7027800-7028200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:7027800-7028600	Enhancers	Fetal Intestine Large	intestine
7	chr7:7027800-7030800	Enhancers	K562	blood
8	chr7:7028000-7030600	Weak transcription	Fetal Lung	lung
9	chr7:7028200-7031000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:7028600-7029000	Weak transcription	Fetal Intestine Large	intestine
11	chr7:7028800-7029600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr7:7029000-7029800	Enhancers	Fetal Intestine Large	intestine
13	chr7:7029400-7029600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:7029400-7030000	Enhancers	HepG2	liver
15	chr7:7029400-7030200	Enhancers	Stomach Mucosa	stomach
16	chr7:7029400-7030400	Enhancers	Fetal Intestine Small	intestine
17	chr7:7029600-7029800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:7029600-7029800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:7029600-7029800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr7:7029600-7030000	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr7:7029600-7030200	Enhancers	Fetal Heart	heart
22	chr7:7029600-7030400	Enhancers	Duodenum Mucosa	Duodenum
23	chr7:7029600-7031400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:7029600-7031400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:7029800-7030400	Weak transcription	Fetal Intestine Large	intestine
26	chr7:7029800-7030800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:7029800-7032200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr7:7030000-7030200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:7030000-7031000	Weak transcription	HepG2	liver
30	chr7:7030200-7030800	Weak transcription	Fetal Heart	heart
31	chr7:7030200-7030800	Enhancers	NHEK	skin
32	chr7:7030200-7031000	Weak transcription	Stomach Mucosa	stomach
33	chr7:7030200-7031800	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr7:7030200-7032200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:7030400-7030600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:7030400-7031200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr7:7030400-7031800	Active TSS	Fetal Intestine Large	intestine
38	chr7:7030400-7032400	Active TSS	Fetal Intestine Small	intestine
39	chr7:7030600-7030800	Enhancers	Fetal Kidney	kidney
40	chr7:7030600-7030800	Enhancers	Fetal Lung	lung
41	chr7:7030600-7031000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr7:7030600-7031400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:7030600-7031600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr7:7030600-7032600	Active TSS	Duodenum Mucosa	Duodenum
45	chr7:7030800-7031000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:7030800-7031000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr7:7030800-7031000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:7030800-7031000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:7030800-7031000	Active TSS	NHEK	skin
50	chr7:7030800-7031000	Active TSS	Osteobl	bone

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