Variant report

Variant	nsv961833
Chromosome Location	chr2:97722043-97724316
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	CTCF	chr2:97723060-97723210	WI-38	lung:	n/a	n/a
2	CTCF	chr2:97722000-97722150	GM12864	blood:	n/a	n/a
3	CTCF	chr2:97721960-97722110	GM12865	blood:	n/a	n/a
4	CTCF	chr2:97722055-97722103	MCF-7	breast:	n/a	n/a
5	CTCF	chr2:97721940-97722090	A549	lung:	n/a	n/a
6	CTCF	chr2:97722040-97722190	MCF-7	breast:	n/a	n/a
7	CTCF	chr2:97721980-97722130	HRPEpiC	eye:	n/a	n/a
8	CTCF	chr2:97722000-97722150	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr2:97721980-97722130	GM12868	blood:	n/a	n/a
10	CTCF	chr2:97722000-97722150	HEK293	kidney:	n/a	n/a
11	CTCF	chr2:97722060-97722210	A549	lung:	n/a	n/a
12	CTCF	chr2:97721980-97722130	HCT-116	colon:	n/a	n/a
13	CTCF	chr2:97722020-97722170	GM12875	blood:	n/a	n/a
14	CTCF	chr2:97722060-97722210	GM12872	blood:	n/a	n/a
15	STAT3	chr2:97722612-97722791	MCF10A-Er-Src	breast:	n/a	n/a
16	TBP	chr2:97723589-97723716	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
IGKV1OR2-3	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112027519	chr2:97722045-97722046	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs556294118	chr2:97722103-97722104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs554669534	chr2:97722109-97722110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs113628884	chr2:97722137-97722138	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs574541537	chr2:97722152-97722153	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs540320811	chr2:97722207-97722208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs553814444	chr2:97722666-97722667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs577276094	chr2:97722667-97722668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs189929734	chr2:97722673-97722674	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs564926715	chr2:97722719-97722720	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs370343138	chr2:97722745-97722746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs575434320	chr2:97722748-97722749	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs552295637	chr2:97723094-97723095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs368739152	chr2:97723127-97723128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs79731542	chr2:97723141-97723142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs569343760	chr2:97723169-97723170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs2707337	chr2:97723182-97723183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2950994	chr2:97723614-97723615	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs9711395	chr2:97723640-97723641	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs2314846	chr2:97723673-97723674	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs577212608	chr2:97723692-97723693	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs2314845	chr2:97723701-97723702	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539538840	chr2:97723710-97723711	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs556650291	chr2:97723717-97723718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74411970	chr2:97723720-97723721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1257067	chr2:97723721-97723722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544442552	chr2:97723760-97723761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2872760	chr2:97723761-97723762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369272550	chr2:97723764-97723765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2314843	chr2:97723776-97723777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2707339	chr2:97723798-97723799	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-small cell lung cancer	16651412	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97723600-97723800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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