Variant report

Variant	nsv961542
Chromosome Location	chr2:190780134-190789823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:190789105-190789126	Medullo	brain:	n/a	n/a
2	CTCF	chr2:190789314-190789391	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr2:190788440-190788484	GM19239	blood:	n/a	n/a
4	CTCF	chr2:190787020-190787170	GM12864	blood:	n/a	n/a
5	CTCF	chr2:190788490-190788563	Medullo	brain:	n/a	n/a
6	CTCF	chr2:190787120-190787270	GM12871	blood:	n/a	n/a
7	CTCF	chr2:190781986-190782089	GM10248	blood:	n/a	n/a
8	CTCF	chr2:190788418-190788555	GM20000	blood:	n/a	n/a
9	FOSL2	chr2:190787772-190788133	HepG2	liver:	n/a	n/a
10	FOXA1	chr2:190784443-190784621	T-47D	breast:	n/a	n/a
11	GATA3	chr2:190784446-190784866	MCF-7	breast:	n/a	n/a
12	GATA3	chr2:190784497-190784731	MCF-7	breast:	n/a	n/a
13	GATA3	chr2:190784365-190784735	T-47D	breast:	n/a	n/a
14	GATA3	chr2:190784393-190784716	T-47D	breast:	n/a	n/a
15	HEY1	chr2:190788859-190789108	HepG2	liver:	n/a	n/a
16	HEY1	chr2:190787817-190788140	K562	blood:	n/a	n/a
17	HEY1	chr2:190787811-190788194	HepG2	liver:	n/a	n/a
18	HEY1	chr2:190787830-190788034	K562	blood:	n/a	n/a
19	HEY1	chr2:190787806-190788084	HepG2	liver:	n/a	n/a
20	JUN	chr2:190780101-190780271	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr2:190787866-190788048	HepG2	liver:	n/a	n/a
22	JUND	chr2:190788739-190788910	HepG2	liver:	n/a	n/a
23	JUND	chr2:190787851-190787991	HepG2	liver:	n/a	n/a
24	MYC	chr2:190787877-190787967	MCF-7	breast:	n/a	n/a
25	MYC	chr2:190787883-190787975	MCF-7	breast:	n/a	n/a
26	MYC	chr2:190787891-190787969	HepG2	liver:	n/a	n/a
27	NR3C1	chr2:190787084-190787399	A549	lung:	n/a	n/a
28	POLR2A	chr2:190787811-190788286	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr2:190787744-190788182	GM12892	blood:	n/a	n/a
30	POLR2A	chr2:190787676-190788022	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr2:190788762-190789504	HepG2	liver:	n/a	n/a
32	POLR2A	chr2:190788672-190789005	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr2:190787680-190787993	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:190787631-190788024	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr2:190787597-190788024	MCF-7	breast:	n/a	n/a
36	POLR2A	chr2:190787752-190788376	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr2:190787614-190788025	MCF-7	breast:	n/a	n/a
38	POLR2A	chr2:190787838-190788100	A549	lung:	n/a	n/a
39	POLR2A	chr2:190787693-190788326	GM12892	blood:	n/a	n/a
40	POLR2A	chr2:190787822-190788157	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr2:190787862-190788021	HepG2	liver:	n/a	n/a
42	POLR2A	chr2:190787655-190788024	A549	lung:	n/a	n/a
43	POLR2A	chr2:190787871-190787995	A549	lung:	n/a	n/a
44	POLR2A	chr2:190788729-190789118	K562	blood:	n/a	n/a
45	POLR2A	chr2:190787859-190788009	A549	lung:	n/a	n/a
46	POLR2A	chr2:190788787-190788807	MCF-7	breast:	n/a	n/a
47	POLR2A	chr2:190780380-190780552	K562	blood:	n/a	n/a
48	POLR2A	chr2:190787845-190788068	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr2:190787837-190788085	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr2:190787848-190788066	SK-N-SH	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:190788030-190788080	SAEC	small airway:	n/a
2	chr2:190788030-190788080	LNCaP	prostate:	n/a
3	chr2:190788356-190788406	AG09309	skin:	n/a
4	chr2:190788030-190788080	ovcar-3	ovarian:	n/a
5	chr2:190788356-190788406	HCM	heart:	n/a
6	chr2:190788356-190788406	HAEpiC	amniotic membrane:	n/a
7	chr2:190788030-190788080	AG10803	skin:	n/a
8	chr2:190788030-190788080	HMEC	breast:	n/a
9	chr2:190788356-190788406	HCF	heart:	n/a
10	chr2:190788356-190788406	GM06990	blood:	n/a
11	chr2:190788356-190788406	BE2_C	brain:	n/a
12	chr2:190788356-190788406	MCF-7	breast:	n/a
13	chr2:190788356-190788406	A549	lung:	n/a
14	chr2:190788030-190788080	NH-A	brain:	n/a
15	chr2:190788356-190788406	HL-60	blood:	n/a
16	chr2:190788356-190788406	HMEC	breast:	n/a
17	chr2:190788356-190788406	SAEC	small airway:	n/a
18	chr2:190788356-190788406	Hepatocyte	liver:	n/a
19	chr2:190788030-190788080	PrEC	prostate:	n/a
20	chr2:190788030-190788080	NB4	blood:	n/a
21	chr2:190788356-190788406	GM12892	blood:	n/a
22	chr2:190788030-190788080	AG09319	gingival:	n/a
23	chr2:190788030-190788080	SK-N-MC	brain:	n/a
24	chr2:190788030-190788080	SKMC	muscle:	n/a
25	chr2:190788030-190788080	GM06990	blood:	n/a
26	chr2:190788030-190788080	GM12892	blood:	n/a
27	chr2:190788356-190788406	HRCEpiC	kidney:	n/a
28	chr2:190788030-190788080	HAEpiC	amniotic membrane:	n/a
29	chr2:190788030-190788080	AG09309	skin:	n/a
30	chr2:190788356-190788406	HPAEpiC	pulmonary alveolar:	n/a
31	chr2:190788030-190788080	CMK	blood:	n/a
32	chr2:190788356-190788406	AG04449	skin:	fetal
33	chr2:190788030-190788080	HRPEpiC	eye:	n/a
34	chr2:190788030-190788080	AG04450	lung:	fetal
35	chr2:190788356-190788406	SK-N-SH	brain:	n/a
36	chr2:190788356-190788406	HRE	kidney:	n/a
37	chr2:190788030-190788080	HRE	kidney:	n/a
38	chr2:190788356-190788406	PrEC	prostate:	n/a
39	chr2:190788030-190788080	BE2_C	brain:	n/a
40	chr2:190788030-190788080	IMR90	lung:	fetal
41	chr2:190788356-190788406	HCPEpiC	choroid plexus:	n/a
42	chr2:190788356-190788406	H1-hESC	embryonic stem cell:	embryo
43	chr2:190788356-190788406	MCF10A-Er-Src	breast:	n/a
44	chr2:190788356-190788406	AoSMC	blood vessel:	n/a
45	chr2:190788356-190788406	GM19239	blood:	n/a
46	chr2:190788030-190788080	NT2-D1	testis:	n/a
47	chr2:190788356-190788406	HRPEpiC	eye:	n/a
48	chr2:190788356-190788406	GM12878	blood:	n/a
49	chr2:190788356-190788406	ProgFib	skin:	n/a
50	chr2:190788030-190788080	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190646802..190649135-chr2:190778761..190780447,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ORMDL1-4	chr2:190781980-190782484	NONHSAT076075

No data

Variant related genes	Relation type
HNRNPCP2	TF binding region
ENSG00000223824	TF binding region
HNRNPCP2	CpG island
ENSG00000223824	CpG island
ENSG00000064933	chromatin interactions
ENSG00000128699	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114607777	chr2:190780148-190780149	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs71434669	chr2:190780162-190780163	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs560467794	chr2:190780207-190780208	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529999685	chr2:190780364-190780365	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs147617592	chr2:190780372-190780373	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs576105177	chr2:190780405-190780406	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs191168123	chr2:190781986-190781987	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs372791977	chr2:190781993-190781994	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs374104733	chr2:190782029-190782030	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs554914528	chr2:190782053-190782054	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs568838734	chr2:190782171-190782172	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs575960822	chr2:190782172-190782173	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs543069928	chr2:190782173-190782174	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs558596381	chr2:190782240-190782241	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs576897959	chr2:190782274-190782275	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs146138148	chr2:190782296-190782297	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs560359714	chr2:190782304-190782305	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs138985982	chr2:190782306-190782307	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs535844828	chr2:190782351-190782352	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs561437851	chr2:190782358-190782359	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs554865040	chr2:190782392-190782393	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs549942086	chr2:190782433-190782434	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs571705901	chr2:190782435-190782436	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs543719145	chr2:190783816-190783817	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs11683051	chr2:190784496-190784497	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs112611227	chr2:190784509-190784510	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs148958707	chr2:190784528-190784529	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs180756150	chr2:190784574-190784575	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs574777842	chr2:190784611-190784612	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs74476380	chr2:190784661-190784662	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs58856396	chr2:190784666-190784667	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs16832183	chr2:190784691-190784692	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs547904609	chr2:190784732-190784733	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs546007812	chr2:190784771-190784772	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs138214577	chr2:190784842-190784843	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs375316428	chr2:190787034-190787035	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs188088871	chr2:190787038-190787039	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs141538198	chr2:190787115-190787116	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs547248871	chr2:190787166-190787167	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs193012772	chr2:190787188-190787189	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs113241080	chr2:190787249-190787250	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs367968851	chr2:190787257-190787258	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs185310979	chr2:190787296-190787297	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs550209403	chr2:190787380-190787381	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs192952615	chr2:190787502-190787503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs138254132	chr2:190787518-190787519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs112639421	chr2:190787541-190787542	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs147366464	chr2:190787573-190787574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs555587091	chr2:190787603-190787604	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs139504984	chr2:190787646-190787647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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