Variant report

Variant	nsv971524
Chromosome Location	chr7:19814693-19827964
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	BACH1	chr7:19818509-19818513	K562	blood:	n/a	n/a
2	CTCF	chr7:19815300-19815450	RPTEC	kidney:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
3	CTCF	chr7:19815340-19815490	HRPEpiC	eye:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
4	CTCF	chr7:19815400-19815550	MCF-7	breast:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
5	CTCF	chr7:19815420-19815570	HCM	heart:	n/a	n/a
6	CTCF	chr7:19815380-19815530	HPF	lung:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
7	CTCF	chr7:19815260-19815410	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr7:19815260-19815410	RPTEC	kidney:	n/a	n/a
9	CTCF	chr7:19815300-19815450	HCPEpiC	choroid plexus:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
10	CTCF	chr7:19815362-19815455	MCF-7	breast:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
11	CTCF	chr7:19815399-19815433	LNCaP	prostate:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
12	CTCF	chr7:19815352-19815467	Hela-S3	cervix:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
13	CTCF	chr7:19815340-19815490	HMEC	breast:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
14	CTCF	chr7:19815421-19815476	Medullo	brain:	n/a	n/a
15	CTCF	chr7:19815380-19815530	HRPEpiC	eye:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
16	CTCF	chr7:19815349-19815463	LNCaP	prostate:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
17	CTCF	chr7:19827163-19827208	GM13976	blood:	n/a	n/a
18	CTCF	chr7:19815340-19815490	HMF	breast:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
19	CTCF	chr7:19815280-19815430	BE2_C	brain:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
20	CUX1	chr7:19820485-19820492	GM12878	blood:	n/a	n/a
21	GATA3	chr7:19824258-19824298	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr7:19827092-19827115	SH-SY5Y	brain:	n/a	n/a
23	KAP1	chr7:19824496-19824998	HEK293	kidney:	n/a	n/a
24	MAFF	chr7:19823250-19823490	HepG2	liver:	n/a	chr7:19823370-19823388
25	MAFK	chr7:19823313-19823470	HepG2	liver:	n/a	chr7:19823372-19823387
26	MAFK	chr7:19823246-19823535	HepG2	liver:	n/a	chr7:19823372-19823387
27	MAFK	chr7:19823252-19823492	IMR90	lung:	n/a	chr7:19823372-19823387
28	RAD21	chr7:19815324-19815574	A549	lung:	n/a	chr7:19815404-19815423
29	RAD21	chr7:19815244-19815629	HCT-116	colon:	n/a	chr7:19815404-19815423
30	STAT3	chr7:19819350-19819500	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr7:19824021-19824158	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr7:19826592-19826784	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:19815309-19815359	NH-A	brain:	n/a
2	chr7:19815309-19815359	GM12878	blood:	n/a
3	chr7:19815309-19815359	ProgFib	skin:	n/a
4	chr7:19815309-19815359	HCPEpiC	choroid plexus:	n/a
5	chr7:19815309-19815359	HEEpiC	esophagus:	n/a
6	chr7:19815309-19815359	HEK293	kidney:	embryo
7	chr7:19815309-19815359	K562	blood:	n/a
8	chr7:19815309-19815359	AG09319	gingival:	n/a
9	chr7:19815309-19815359	GM06990	blood:	n/a
10	chr7:19815309-19815359	NHBE	bronchial:	n/a
11	chr7:19815309-19815359	SKMC	muscle:	n/a
12	chr7:19815309-19815359	H1-hESC	embryonic stem cell:	embryo
13	chr7:19815309-19815359	ovcar-3	ovarian:	n/a
14	chr7:19815309-19815359	HCT-116	colon:	n/a
15	chr7:19815309-19815359	AG04450	lung:	fetal
16	chr7:19815309-19815359	HRCEpiC	kidney:	n/a
17	chr7:19815309-19815359	PrEC	prostate:	n/a
18	chr7:19815309-19815359	Hepatocyte	liver:	n/a
19	chr7:19815309-19815359	SK-N-SH_RA	brain:	n/a
20	chr7:19815309-19815359	SAEC	small airway:	n/a
21	chr7:19815309-19815359	BJ	skin:	n/a
22	chr7:19815309-19815359	BE2_C	brain:	n/a
23	chr7:19815309-19815359	HIPEpiC	eye:	n/a
24	chr7:19815309-19815359	HL-60	blood:	n/a
25	chr7:19815309-19815359	NT2-D1	testis:	n/a
26	chr7:19815309-19815359	Jurkat	blood:	n/a
27	chr7:19815309-19815359	IMR90	lung:	fetal
28	chr7:19815309-19815359	SK-N-SH	brain:	n/a
29	chr7:19815309-19815359	T-47D	breast:	n/a
30	chr7:19815309-19815359	HPAEpiC	pulmonary alveolar:	n/a
31	chr7:19815309-19815359	HepG2	liver:	n/a
32	chr7:19815309-19815359	LNCaP	prostate:	n/a
33	chr7:19815309-19815359	HCM	heart:	n/a
34	chr7:19815309-19815359	HRPEpiC	eye:	n/a
35	chr7:19815309-19815359	MCF-7	breast:	n/a
36	chr7:19815309-19815359	AoSMC	blood vessel:	n/a
37	chr7:19815309-19815359	HMEC	breast:	n/a
38	chr7:19815309-19815359	AG09309	skin:	n/a
39	chr7:19815309-19815359	AG04449	skin:	fetal
40	chr7:19815309-19815359	HUVEC	blood vessel:	n/a
41	chr7:19815309-19815359	A549	lung:	n/a
42	chr7:19815309-19815359	CMK	blood:	n/a
43	chr7:19815309-19815359	AG10803	skin:	n/a
44	chr7:19815309-19815359	MCF10A-Er-Src	breast:	n/a
45	chr7:19815309-19815359	NB4	blood:	n/a
46	chr7:19815309-19815359	RPTEC	kidney:	n/a
47	chr7:19815309-19815359	NHDF-neo	bronchial:	n/a
48	chr7:19815309-19815359	Hela-S3	cervix:	n/a
49	chr7:19815309-19815359	GM12892	blood:	n/a
50	chr7:19815309-19815359	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:19814760..19817027-chr7:19818630..19820862,2	K562	blood:
2	chr7:19814760..19817027-chr7:19818630..19820862,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM196-2	chr7:19824105-19824238	NONHSAT119391
2	lnc-TMEM196-2	chr7:19822351-19822462	NONHSAT119391
3	lnc-TMEM196-2	chr7:19819833-19819872	NONHSAT119391
4	lnc-TMEM196-2	chr7:19823372-19823454	NONHSAT119391

Variant related genes	Relation type
TMEM196	TF binding region
TMEM196	CpG island

Extended variants
information (count: 69 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548569127	chr7:19814698-19814699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570352369	chr7:19814736-19814737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537000269	chr7:19814737-19814738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528732572	chr7:19814756-19814757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552549350	chr7:19814769-19814770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577174958	chr7:19814770-19814771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570946831	chr7:19814786-19814787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191294418	chr7:19814860-19814861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553179382	chr7:19814862-19814863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548475589	chr7:19814912-19814913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574718720	chr7:19814943-19814944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535654157	chr7:19814973-19814974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556947423	chr7:19815007-19815008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575496762	chr7:19815016-19815017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545474136	chr7:19815046-19815047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35301971	chr7:19815109-19815110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564156546	chr7:19815137-19815138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144396745	chr7:19815160-19815161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111578933	chr7:19815168-19815169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368414269	chr7:19815170-19815171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539976191	chr7:19815185-19815186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561463938	chr7:19815214-19815215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28605851	chr7:19815219-19815220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548768967	chr7:19815226-19815227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113153748	chr7:19815264-19815265	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs563786421	chr7:19815309-19815310	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs145531113	chr7:19815310-19815311	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs183044875	chr7:19815373-19815374	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs547828671	chr7:19815381-19815382	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs186614960	chr7:19815387-19815388	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs570883600	chr7:19815430-19815431	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs190044321	chr7:19815451-19815452	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs547081096	chr7:19815458-19815459	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs118170531	chr7:19815475-19815476	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs148844766	chr7:19815476-19815477	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs112621971	chr7:19815500-19815501	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs369970508	chr7:19815558-19815559	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs539749289	chr7:19815632-19815633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557315998	chr7:19815669-19815670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572474605	chr7:19815716-19815717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143103257	chr7:19815735-19815736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539866492	chr7:19815794-19815795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73680520	chr7:19819860-19819861	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs79407523	chr7:19822353-19822354	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs191767126	chr7:19822354-19822355	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs573660918	chr7:19822368-19822369	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs555392704	chr7:19822373-19822374	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs377567575	chr7:19822374-19822375	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs557632495	chr7:19822381-19822382	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs10252965	chr7:19822385-19822386	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

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
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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19814200-19814800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr7:19814800-19815600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:19815600-19815800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:19827800-19828200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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