Variant report

Variant	nsv1019377
Chromosome Location	chr7:119164442-119233633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr7:119185151-119185664	HCT-116	colon:	n/a	n/a
2	CCNT2	chr7:119201981-119202070	K562	blood:	n/a	n/a
3	CCNT2	chr7:119174992-119175057	K562	blood:	n/a	n/a
4	CEBPB	chr7:119212161-119212254	A549	lung:	n/a	n/a
5	CEBPB	chr7:119183098-119183415	A549	lung:	n/a	chr7:119183252-119183263
6	CEBPB	chr7:119183182-119183277	K562	blood:	n/a	chr7:119183252-119183263
7	CEBPB	chr7:119201365-119201423	HepG2	liver:	n/a	n/a
8	CEBPB	chr7:119184919-119185504	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr7:119184879-119185640	A549	lung:	n/a	n/a
10	CEBPB	chr7:119183092-119183422	HepG2	liver:	n/a	chr7:119183252-119183263
11	CTCF	chr7:119212144-119212432	K562	blood:	n/a	n/a
12	CTCF	chr7:119212283-119212336	GM19238	blood:	n/a	n/a
13	CTCF	chr7:119212274-119212301	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr7:119212239-119212387	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr7:119212175-119212430	Gliobla	brain:	n/a	n/a
16	CTCF	chr7:119212240-119212390	HVMF	connective:	n/a	n/a
17	CTCF	chr7:119212249-119212315	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr7:119212270-119212286	K562	blood:	n/a	n/a
19	CTCF	chr7:119212200-119212350	HCM	heart:	n/a	n/a
20	CTCF	chr7:119212100-119212250	HVMF	connective:	n/a	n/a
21	CTCF	chr7:119168511-119168565	GM13976	blood:	n/a	n/a
22	CTCF	chr7:119211960-119212110	HMEC	breast:	n/a	n/a
23	CTCF	chr7:119212238-119212332	GM12878	blood:	n/a	n/a
24	CTCF	chr7:119212280-119212430	GM12871	blood:	n/a	n/a
25	CTCF	chr7:119212240-119212390	HepG2	liver:	n/a	n/a
26	CTCF	chr7:119212180-119212330	K562	blood:	n/a	n/a
27	CTCF	chr7:119212120-119212270	BE2_C	brain:	n/a	n/a
28	CTCF	chr7:119210498-119210570	GM20000	blood:	n/a	n/a
29	CTCF	chr7:119213213-119213250	HepG2	liver:	n/a	n/a
30	CTCF	chr7:119212269-119212339	A549	lung:	n/a	n/a
31	CTCF	chr7:119212320-119212470	RPTEC	kidney:	n/a	n/a
32	CTCF	chr7:119212250-119212368	GM12892	blood:	n/a	n/a
33	CTCF	chr7:119212180-119212330	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr7:119212226-119212348	HepG2	liver:	n/a	n/a
35	CTCF	chr7:119212298-119212367	MCF-7	breast:	n/a	n/a
36	CTCF	chr7:119212140-119212290	NB4	blood:	n/a	n/a
37	CTCF	chr7:119168893-119168946	LNCaP	prostate:	n/a	n/a
38	CTCF	chr7:119212180-119212330	HMEC	breast:	n/a	n/a
39	CTCF	chr7:119212280-119212430	RPTEC	kidney:	n/a	n/a
40	CTCF	chr7:119212260-119212410	HCT-116	colon:	n/a	n/a
41	CTCF	chr7:119168742-119168758	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr7:119212154-119212444	GM12878	blood:	n/a	n/a
43	CTCF	chr7:119212194-119212349	Medullo	brain:	n/a	n/a
44	CTCF	chr7:119212219-119212248	LNCaP	prostate:	n/a	n/a
45	CTCF	chr7:119213180-119213330	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr7:119212187-119212388	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr7:119212255-119212361	GM19240	blood:	n/a	n/a
48	CTCF	chr7:119212256-119212355	GM19239	blood:	n/a	n/a
49	E2F4	chr7:119223659-119223822	MCF10A-Er-Src	breast:	n/a	n/a
50	EBF1	chr7:119164957-119165272	GM12878	blood:	n/a	chr7:119165133-119165144

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:119175916-119175966	HMEC	breast:	n/a
2	chr7:119175916-119175966	RPTEC	kidney:	n/a
3	chr7:119175916-119175966	ovcar-3	ovarian:	n/a
4	chr7:119175916-119175966	BJ	skin:	n/a
5	chr7:119175916-119175966	PFSK-1	brain:	n/a
6	chr7:119175916-119175966	GM12891	blood:	n/a
7	chr7:119175916-119175966	Jurkat	blood:	n/a
8	chr7:119175916-119175966	HNPCEpiC	eye:	n/a
9	chr7:119175916-119175966	GM12878	blood:	n/a
10	chr7:119175916-119175966	K562	blood:	n/a
11	chr7:119175916-119175966	MCF10A-Er-Src	breast:	n/a
12	chr7:119175916-119175966	H1-hESC	embryonic stem cell:	embryo
13	chr7:119175916-119175966	AoSMC	blood vessel:	n/a
14	chr7:119175916-119175966	NHDF-neo	bronchial:	n/a
15	chr7:119175916-119175966	AG10803	skin:	n/a
16	chr7:119175916-119175966	HCT-116	colon:	n/a
17	chr7:119175916-119175966	Hela-S3	cervix:	n/a
18	chr7:119175916-119175966	T-47D	breast:	n/a
19	chr7:119175916-119175966	MCF-7	breast:	n/a
20	chr7:119175916-119175966	CMK	blood:	n/a
21	chr7:119175916-119175966	GM12892	blood:	n/a
22	chr7:119175916-119175966	U87	brain:	n/a
23	chr7:119175916-119175966	HCPEpiC	choroid plexus:	n/a
24	chr7:119175916-119175966	HRCEpiC	kidney:	n/a
25	chr7:119175916-119175966	HCF	heart:	n/a
26	chr7:119175916-119175966	NT2-D1	testis:	n/a
27	chr7:119175916-119175966	Hepatocyte	liver:	n/a
28	chr7:119175916-119175966	HUVEC	blood vessel:	n/a
29	chr7:119175916-119175966	HCM	heart:	n/a
30	chr7:119175916-119175966	BE2_C	brain:	n/a
31	chr7:119175916-119175966	ProgFib	skin:	n/a
32	chr7:119175916-119175966	SAEC	small airway:	n/a
33	chr7:119175916-119175966	A549	lung:	n/a
34	chr7:119175916-119175966	SK-N-MC	brain:	n/a
35	chr7:119175916-119175966	AG04449	skin:	fetal
36	chr7:119175916-119175966	NH-A	brain:	n/a
37	chr7:119175916-119175966	ECC-1	luminal epithelium:	n/a
38	chr7:119175916-119175966	AG09309	skin:	n/a
39	chr7:119175916-119175966	Caco-2	colon:	n/a
40	chr7:119175916-119175966	HEEpiC	esophagus:	n/a
41	chr7:119175916-119175966	GM06990	blood:	n/a
42	chr7:119175916-119175966	HPAEpiC	pulmonary alveolar:	n/a
43	chr7:119175916-119175966	HL-60	blood:	n/a
44	chr7:119175916-119175966	SK-N-SH_RA	brain:	n/a
45	chr7:119175916-119175966	PrEC	prostate:	n/a
46	chr7:119175916-119175966	SKMC	muscle:	n/a
47	chr7:119175916-119175966	AG09319	gingival:	n/a
48	chr7:119175916-119175966	LNCaP	prostate:	n/a
49	chr7:119175916-119175966	GM19239	blood:	n/a
50	chr7:119175916-119175966	NB4	blood:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:119212184..119214604-chr7:119220970..119224685,3	K562	blood:
2	chr7:119184831..119187773-chr7:119262380..119264496,2	MCF-7	breast:
3	chr7:119212184..119216632-chr7:119220970..119225768,5	K562	blood:
4	chr7:119174664..119177243-chr7:119179086..119181541,2	K562	blood:
5	chr7:119202572..119205180-chr8:103798970..103800546,2	MCF-7	breast:
6	chr7:119188506..119190356-chr7:119200793..119202933,2	K562	blood:
7	chr7:119171216..119174031-chr7:119180101..119182290,2	K562	blood:
8	chr7:119211056..119214261-chr7:119214480..119218185,4	K562	blood:
9	chr7:119188506..119190356-chr7:119200793..119202933,2	K562	blood:
10	chr7:119212184..119216632-chr7:119220970..119225768,5	K562	blood:
11	chr7:119171216..119174031-chr7:119180101..119182290,2	K562	blood:
12	chr7:119211056..119214261-chr7:119214480..119218185,4	K562	blood:
13	chr7:119174664..119177243-chr7:119179086..119181541,2	K562	blood:
14	chr7:119215904..119218529-chr7:119221309..119224669,3	K562	blood:
15	chr7:119212184..119214604-chr7:119220970..119224685,3	K562	blood:
16	chr7:119192825..119195698-chr7:119199166..119201397,2	K562	blood:
17	chr7:119192825..119195698-chr7:119199166..119201397,2	K562	blood:
18	chr7:119215904..119218529-chr7:119221309..119224669,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256882	TF binding region
ENSG00000256882	CpG island

Extended variants
information (count: 472 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556395180	chr7:119173420-119173421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555034224	chr7:119173444-119173445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111858648	chr7:119173452-119173453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573817956	chr7:119173462-119173463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560438216	chr7:119173477-119173478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368717011	chr7:119173543-119173544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577370554	chr7:119173574-119173575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544674028	chr7:119173593-119173594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75156066	chr7:119173617-119173618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530553807	chr7:119173676-119173677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550157893	chr7:119173700-119173701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570999761	chr7:119173821-119173822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529907049	chr7:119173908-119173909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539237593	chr7:119173913-119173914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534942910	chr7:119173915-119173916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538845249	chr7:119173971-119173972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76798586	chr7:119173990-119173991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374510573	chr7:119174034-119174035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538385657	chr7:119174111-119174112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183329504	chr7:119174133-119174134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564448596	chr7:119174162-119174163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574783843	chr7:119174177-119174178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543326738	chr7:119174188-119174189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35120408	chr7:119174297-119174298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398006020	chr7:119174301-119174302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28421982	chr7:119174304-119174305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs139021434	chr7:119174320-119174321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143041603	chr7:119174392-119174393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573576248	chr7:119174399-119174400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545971690	chr7:119174444-119174445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76646918	chr7:119174580-119174581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556366982	chr7:119174582-119174583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569741899	chr7:119174585-119174586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77610091	chr7:119174704-119174705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543912795	chr7:119174707-119174708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560676570	chr7:119174714-119174715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529716676	chr7:119174766-119174767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540123066	chr7:119174798-119174799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186557653	chr7:119174801-119174802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568685974	chr7:119174871-119174872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192233407	chr7:119174882-119174883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552401030	chr7:119174903-119174904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7797628	chr7:119174918-119174919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531795310	chr7:119174951-119174952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548701782	chr7:119175107-119175108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184614913	chr7:119175118-119175119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562452984	chr7:119175156-119175157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187970784	chr7:119175213-119175214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147481926	chr7:119175265-119175266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571103650	chr7:119175268-119175269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119173400-119175200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:119174600-119174800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr7:119174800-119175400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:119174800-119175800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:119175200-119175600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:119175400-119176000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:119175600-119176000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:119183000-119183600	Enhancers	Adipose Nuclei	Adipose
9	chr7:119184200-119186600	Enhancers	HUVEC	blood vessel
10	chr7:119184800-119186000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:119185200-119186000	Enhancers	A549	lung
12	chr7:119185400-119185800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:119185400-119185800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:119185400-119185800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:119185400-119186000	Enhancers	NH-A	brain
16	chr7:119185400-119186200	Enhancers	HMEC	breast
17	chr7:119185800-119186200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:119186200-119186600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:119206600-119206800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
20	chr7:119206600-119207200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:119206800-119207000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
22	chr7:119207000-119207200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
23	chr7:119212000-119213000	Enhancers	Brain Substantia Nigra	brain
24	chr7:119212200-119212800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:119212600-119213000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:119213000-119218200	Weak transcription	Brain Substantia Nigra	brain
27	chr7:119217400-119219000	Enhancers	Brain Hippocampus Middle	brain
28	chr7:119218200-119219000	Enhancers	Brain Substantia Nigra	brain

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