Variant report

Variant	nsv887815
Chromosome Location	chr7:18931219-18958942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr7:18934946-18935470	HCT-116	colon:	n/a	n/a
2	CEBPB	chr7:18945099-18945329	A549	lung:	n/a	n/a
3	CEBPB	chr7:18940561-18940789	IMR90	lung:	n/a	chr7:18940689-18940702 chr7:18940622-18940635
4	CEBPB	chr7:18934830-18935687	HCT-116	colon:	n/a	chr7:18935614-18935626
5	CTCF	chr7:18946710-18946738	HepG2	liver:	n/a	n/a
6	CTCF	chr7:18933820-18933970	BE2_C	brain:	n/a	n/a
7	CTCF	chr7:18933820-18933970	HMEC	breast:	n/a	n/a
8	CTCF	chr7:18946420-18946570	A549	lung:	n/a	n/a
9	CTCF	chr7:18946640-18946790	SK-N-SH_RA	brain:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
10	CTCF	chr7:18933976-18933987	MCF-7	breast:	n/a	n/a
11	CTCF	chr7:18946640-18946790	GM12865	blood:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
12	CTCF	chr7:18946660-18946810	WI-38	lung:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
13	CTCF	chr7:18946720-18946870	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr7:18946510-18946986	HCT-116	colon:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722 chr7:18946970-18946978
15	CTCF	chr7:18946560-18946710	HFF-Myc	foreskin:	n/a	n/a
16	CTCF	chr7:18932820-18932970	BE2_C	brain:	n/a	n/a
17	CTCF	chr7:18933340-18933490	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr7:18946678-18946737	GM12878	blood:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
19	CTCF	chr7:18933956-18933988	Medullo	brain:	n/a	n/a
20	CTCF	chr7:18933988-18934004	MCF-7	breast:	n/a	n/a
21	CTCF	chr7:18933820-18933970	GM12871	blood:	n/a	n/a
22	CTCF	chr7:18946440-18946590	HMEC	breast:	n/a	n/a
23	CTCF	chr7:18946720-18946870	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr7:18946660-18946810	HCT-116	colon:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
25	CTCF	chr7:18933910-18933982	ProgFib	skin:	n/a	n/a
26	CTCF	chr7:18933871-18934041	Gliobla	brain:	n/a	n/a
27	CTCF	chr7:18946580-18946730	BE2_C	brain:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
28	CTCF	chr7:18932780-18932930	HEK293	kidney:	n/a	n/a
29	CTCF	chr7:18946489-18946821	H1-hESC	embryonic stem cell:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
30	CTCF	chr7:18946665-18946767	MCF-7	breast:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
31	CTCF	chr7:18946694-18946725	MCF-7	breast:	n/a	chr7:18946706-18946724 chr7:18946707-18946723 chr7:18946709-18946722
32	CTCF	chr7:18946587-18946818	GM12878	blood:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
33	CTCF	chr7:18946640-18946790	HPAF	blood vessel:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
34	CTCF	chr7:18933840-18933990	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr7:18946620-18946770	HCPEpiC	choroid plexus:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
36	CTCF	chr7:18933860-18934010	GM12872	blood:	n/a	n/a
37	CTCF	chr7:18946640-18946790	NHEK	skin:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
38	CTCF	chr7:18933839-18934134	GM12878	blood:	n/a	n/a
39	CTCF	chr7:18933880-18934030	BE2_C	brain:	n/a	n/a
40	CTCF	chr7:18946520-18946670	Caco-2	colon:	n/a	n/a
41	CTCF	chr7:18946615-18946797	LNCaP	prostate:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
42	CTCF	chr7:18933860-18934010	HEK293	kidney:	n/a	n/a
43	CTCF	chr7:18946680-18946830	A549	lung:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
44	CTCF	chr7:18933896-18934040	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr7:18946700-18946850	HMEC	breast:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
46	CTCF	chr7:18946660-18946810	HPAF	blood vessel:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
47	CTCF	chr7:18946616-18946783	SK-N-SH_RA	brain:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
48	CTCF	chr7:18946660-18946810	HBMEC	blood vessel:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722
49	CTCF	chr7:18933860-18934010	HPF	lung:	n/a	n/a
50	CTCF	chr7:18946640-18946790	HCFaa	heart:	n/a	chr7:18946706-18946724 chr7:18946708-18946729 chr7:18946707-18946723 chr7:18946709-18946722

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TWIST1-2	chr7:18932183-18932263	ENSG00000226522.1
2	lnc-TWIST1-2	chr7:18938932-18939056	ENSG00000226522.1
3	lnc-TWIST1-2	chr7:18931719-18931825	ENSG00000226522.1

Variant related genes	Relation type
ENSG00000226522	TF binding region

Extended variants
information (count: 1240 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1240 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10278449	chr7:18931219-18931220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs184033752	chr7:18931220-18931221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572848757	chr7:18931244-18931245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540029261	chr7:18931284-18931285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2190278	chr7:18931305-18931306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188877703	chr7:18931319-18931320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373055182	chr7:18931323-18931324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541979392	chr7:18931342-18931343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563663215	chr7:18931345-18931346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73320098	chr7:18931392-18931393	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs193072416	chr7:18931398-18931399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2190277	chr7:18931421-18931422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528830964	chr7:18931498-18931499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs36039150	chr7:18931500-18931501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145528103	chr7:18931511-18931512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373917108	chr7:18931518-18931519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147721251	chr7:18931519-18931520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550414407	chr7:18931535-18931536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28418568	chr7:18931575-18931576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530714611	chr7:18931621-18931622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183491547	chr7:18931672-18931673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539059558	chr7:18931682-18931683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557373035	chr7:18931703-18931704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187057029	chr7:18931711-18931712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533863121	chr7:18931722-18931723	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs543997069	chr7:18931764-18931765	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs191822462	chr7:18931765-18931766	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs184322531	chr7:18931773-18931774	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs17350397	chr7:18931787-18931788	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529868898	chr7:18931821-18931822	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs563631575	chr7:18931826-18931827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10282165	chr7:18931878-18931879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141178786	chr7:18931896-18931897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188286680	chr7:18931909-18931910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192445070	chr7:18931910-18931911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547333818	chr7:18931959-18931960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562225987	chr7:18932120-18932121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12700011	chr7:18932161-18932162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559738185	chr7:18932191-18932192	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs551202910	chr7:18932209-18932210	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs538386165	chr7:18932233-18932234	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs79888612	chr7:18932239-18932240	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs185628536	chr7:18932241-18932242	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs74346069	chr7:18932273-18932274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17140231	chr7:18932275-18932276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71524258	chr7:18932298-18932299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs146969214	chr7:18932306-18932307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561040067	chr7:18932315-18932316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112412581	chr7:18932346-18932347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190451642	chr7:18932370-18932371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18903000-18940000	Weak transcription	Aorta	Aorta
2	chr7:18929200-18931400	Enhancers	NHDF-Ad	bronchial
3	chr7:18929200-18931600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:18930000-18932800	Weak transcription	HMEC	breast
5	chr7:18930000-18934400	Weak transcription	Osteobl	bone
6	chr7:18930000-18934800	Weak transcription	HUVEC	blood vessel
7	chr7:18930200-18934800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:18930400-18931400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:18930800-18931400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:18930800-18931400	Enhancers	Fetal Stomach	stomach
11	chr7:18930800-18934600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:18931000-18931400	Enhancers	Right Atrium	heart
13	chr7:18931000-18934600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:18931200-18933400	Weak transcription	Fetal Heart	heart
15	chr7:18931200-18934400	Weak transcription	NHLF	lung
16	chr7:18931200-18943400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:18931400-18934200	Weak transcription	NHDF-Ad	bronchial
18	chr7:18931400-18934600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:18931400-18940000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:18931600-18934400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:18932600-18935200	Enhancers	NHEK	skin
22	chr7:18932800-18935200	Enhancers	HMEC	breast
23	chr7:18933400-18933800	Enhancers	Fetal Heart	heart
24	chr7:18934000-18934200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:18934200-18935200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:18934200-18935200	Enhancers	NHDF-Ad	bronchial
27	chr7:18934400-18934800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:18934400-18935200	Enhancers	Osteobl	bone
29	chr7:18934400-18935600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:18934400-18936600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:18934400-18936800	Enhancers	NHLF	lung
32	chr7:18934600-18935000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:18934600-18935200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:18934600-18935200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:18934600-18935200	Enhancers	NH-A	brain
36	chr7:18934800-18935200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:18934800-18935200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:18934800-18935400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:18934800-18936200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:18934800-18936200	Enhancers	A549	lung
41	chr7:18934800-18936200	Enhancers	Hela-S3	cervix
42	chr7:18934800-18936600	Enhancers	HSMM	muscle
43	chr7:18934800-18936600	Enhancers	HUVEC	blood vessel
44	chr7:18935000-18935600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:18935000-18935600	Enhancers	HSMMtube	muscle
46	chr7:18935200-18935600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:18935200-18935600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:18935200-18935600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr7:18935200-18935600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:18935200-18935600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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