Variant report

Variant	nsv962525
Chromosome Location	chr2:98066295-98108185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:307)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:115)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:98096813-98097157	GM12878	blood:	n/a	n/a
2	BATF	chr2:98096792-98097131	GM12878	blood:	n/a	n/a
3	CTCF	chr2:98068002-98068068	GM10266	blood:	n/a	chr2:98068023-98068041
4	CTCF	chr2:98087828-98087837	GM13976	blood:	n/a	n/a
5	CTCF	chr2:98067937-98068151	Gliobla	brain:	n/a	chr2:98068023-98068041
6	CTCF	chr2:98103227-98103432	GM13976	blood:	n/a	n/a
7	CTCF	chr2:98067967-98068131	GM12891	blood:	n/a	chr2:98068023-98068041
8	CTCF	chr2:98068001-98068106	Fibrobl	skin:	n/a	chr2:98068023-98068041
9	CTCF	chr2:98068002-98068090	GM19240	blood:	n/a	chr2:98068023-98068041
10	CTCF	chr2:98067904-98068087	K562	blood:	n/a	chr2:98068023-98068041
11	CTCF	chr2:98067929-98068134	LNCaP	prostate:	n/a	chr2:98068023-98068041
12	CTCF	chr2:98067924-98068142	MCF-7	breast:	n/a	chr2:98068023-98068041
13	CTCF	chr2:98071444-98071486	LNCaP	prostate:	n/a	n/a
14	CTCF	chr2:98067941-98068137	GM12878	blood:	n/a	chr2:98068023-98068041
15	CTCF	chr2:98070685-98070752	GM10266	blood:	n/a	n/a
16	CTCF	chr2:98087773-98087824	GM13976	blood:	n/a	n/a
17	CTCF	chr2:98067940-98068148	MCF-7	breast:	n/a	chr2:98068023-98068041
18	CTCF	chr2:98068003-98068109	ProgFib	skin:	n/a	chr2:98068023-98068041
19	CTCF	chr2:98097794-98097840	GM13976	blood:	n/a	n/a
20	CTCF	chr2:98097843-98097885	GM13976	blood:	n/a	n/a
21	CTCF	chr2:98105392-98105473	GM10248	blood:	n/a	n/a
22	CTCF	chr2:98067928-98068136	A549	lung:	n/a	chr2:98068023-98068041
23	CTCF	chr2:98067926-98068122	HUVEC	blood vessel:	n/a	chr2:98068023-98068041
24	CTCF	chr2:98067954-98068132	MCF-7	breast:	n/a	chr2:98068023-98068041
25	CTCF	chr2:98067917-98068151	LNCaP	prostate:	n/a	chr2:98068023-98068041
26	CTCF	chr2:98067988-98068130	Spleen_OC	spleen:	n/a	chr2:98068023-98068041
27	CTCF	chr2:98067953-98068110	K562	blood:	n/a	chr2:98068023-98068041
28	CTCF	chr2:98068010-98068052	Medullo	brain:	n/a	chr2:98068023-98068041
29	CTCF	chr2:98067966-98068133	GM12892	blood:	n/a	chr2:98068023-98068041
30	CTCF	chr2:98073649-98073708	LNCaP	prostate:	n/a	n/a
31	CTCF	chr2:98068008-98068099	H1-hESC	embryonic stem cell:	n/a	chr2:98068023-98068041
32	CTCF	chr2:98067977-98068088	HepG2	liver:	n/a	chr2:98068023-98068041
33	CTCF	chr2:98068002-98068045	GM10248	blood:	n/a	chr2:98068023-98068041
34	CTCF	chr2:98066369-98066445	LNCaP	prostate:	n/a	n/a
35	CTCF	chr2:98067926-98068155	MCF-7	breast:	n/a	chr2:98068023-98068041
36	CTCF	chr2:98090896-98090970	GM13976	blood:	n/a	n/a
37	CTCF	chr2:98067948-98068152	MCF-7	breast:	n/a	chr2:98068023-98068041
38	CTCF	chr2:98067952-98068131	GM19238	blood:	n/a	chr2:98068023-98068041
39	CTCF	chr2:98067956-98068095	Hela-S3	cervix:	n/a	chr2:98068023-98068041
40	CTCF	chr2:98067975-98068103	NHEK	skin:	n/a	chr2:98068023-98068041
41	CTCF	chr2:98071602-98071693	GM13976	blood:	n/a	n/a
42	FOSL2	chr2:98098560-98099088	HepG2	liver:	n/a	n/a
43	FOSL2	chr2:98085266-98085669	HepG2	liver:	n/a	n/a
44	FOSL2	chr2:98092271-98092550	HepG2	liver:	n/a	n/a
45	FOSL2	chr2:98095426-98096283	HepG2	liver:	n/a	n/a
46	FOSL2	chr2:98096474-98098496	HepG2	liver:	n/a	n/a
47	FOSL2	chr2:98089308-98089611	HepG2	liver:	n/a	n/a
48	FOSL2	chr2:98099588-98108266	HepG2	liver:	n/a	chr2:98102331-98102345
49	GATA2	chr2:98070433-98070855	K562	blood:	n/a	n/a
50	MAFF	chr2:98079628-98079999	HepG2	liver:	n/a	chr2:98079808-98079822 chr2:98079809-98079827

No data

(count:115 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR1B-3	chr2:98088548-98088677	NONHSAT072642
2	lnc-ACTR1B-3	chr2:98088770-98088865	ENSG00000230606.6
3	lnc-ACTR1B-3	chr2:98091457-98091582	ENSG00000230606.6
4	lnc-ACTR1B-3	chr2:98088770-98088865	NONHSAT072632
5	lnc-ACTR1B-3	chr2:98088652-98088677	ENSG00000230606
6	lnc-ACTR1B-3	chr2:98089391-98089662	ENSG00000230606.6
7	lnc-ACTR1B-3	chr2:98088770-98089122	ENSG00000230606
8	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
9	lnc-ACTR1B-3	chr2:98094797-98094824	NONHSAT072631
10	lnc-ACTR1B-1	chr2:98105261-98105300	XLOC_002220
11	lnc-ANKRD36-2	chr2:98087758-98088195	ENSG00000241481.2
12	lnc-ACTR1B-3	chr2:98088770-98091348	NONHSAT072642
13	lnc-ACTR1B-3	chr2:98088089-98088677	ENSG00000230606
14	lnc-ACTR1B-3	chr2:98081839-98082014	ENSG00000230606.6
15	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
16	lnc-ANKRD36-2	chr2:98088553-98088902	ENSG00000241481.2
17	lnc-ACTR1B-3	chr2:98088548-98088677	NR_040097
18	lnc-ACTR1B-3	chr2:98081683-98082014	ENSG00000230606
19	lnc-ACTR1B-3	chr2:98088770-98088865	ENSG00000230606.6
20	lnc-ACTR1B-3	chr2:98081922-98082014	ENSG00000230606.6
21	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
22	lnc-ACTR1B-3	chr2:98089382-98089511	ENSG00000230606.6
23	lnc-ACTR1B-3	chr2:98081676-98082014	NONHSAT072631
24	lnc-ACTR1B-3	chr2:98088032-98088249	ENSG00000230606.6
25	lnc-ACTR1B-3	chr2:98094797-98095220	ENSG00000230606.6
26	lnc-ANKRD36-2	chr2:98088553-98088813	XLOC_001584
27	lnc-ACTR1B-3	chr2:98091457-98091693	ENSG00000230606.6
28	lnc-ACTR1B-3	chr2:98091457-98091651	ENSG00000230606.6
29	lnc-ACTR1B-3	chr2:98089395-98089511	ENSG00000230606.6
30	lnc-ACTR1B-3	chr2:98089382-98089620	NONHSAT072632
31	lnc-ACTR1B-3	chr2:98089395-98089994	ENSG00000230606.6
32	lnc-ACTR1B-3	chr2:98088770-98088865	ENSG00000230606.6
33	lnc-ACTR1B-3	chr2:98089391-98089511	ENSG00000230606.6
34	lnc-ACTR1B-3	chr2:98088032-98088252	NR_040097
35	lnc-ACTR1B-3	chr2:98088770-98090529	NONHSAT072644
36	lnc-ACTR1B-3	chr2:98088770-98090673	NONHSAT072638
37	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606
38	lnc-ANKRD36-2	chr2:98086771-98086841	ENSG00000241481.2
39	lnc-ACTR1B-1	chr2:98104748-98105157	XLOC_002220
40	lnc-ACTR1B-3	chr2:98088032-98088090	ENSG00000230606.6
41	lnc-ACTR1B-3	chr2:98088032-98088090	NONHSAT072636
42	lnc-ACTR1B-3	chr2:98088770-98088854	ENSG00000230606.6
43	lnc-ACTR1B-3	chr2:98091457-98091784	ENSG00000230606.6
44	lnc-ANKRD36-2	chr2:98086771-98086841	ENSG00000241481.2
45	lnc-ACTR1B-3	chr2:98088032-98088252	ENSG00000230606
46	lnc-ACTR1B-2	chr2:98104342-98104688	XLOC_002219
47	lnc-ACTR1B-3	chr2:98088770-98091049	ENSG00000230606.6
48	lnc-ACTR1B-3	chr2:98088770-98088865	ENSG00000230606
49	lnc-ACTR1B-3	chr2:98088548-98088677	NONHSAT072638
50	lnc-ACTR1B-4	chr2:98069548-98069799	XLOC_002217

No data

Variant related genes	Relation type
ENSG00000237837	TF binding region
ENSG00000241481	TF binding region
ENSG00000230606	TF binding region
LYSMD1	miRNA target sites

Extended variants
information (count: 153 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4095720	chr2:98081412-98081413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs569262667	chr2:98081451-98081452	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs558804438	chr2:98081657-98081658	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs543835707	chr2:98084765-98084766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs560955570	chr2:98084794-98084795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs371626007	chr2:98084803-98084804	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529713748	chr2:98084957-98084958	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs546677780	chr2:98084978-98084979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs62152810	chr2:98084998-98084999	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs375714036	chr2:98085018-98085019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs538559076	chr2:98086744-98086745	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs80022735	chr2:98087567-98087568	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs532731042	chr2:98087596-98087597	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs78898080	chr2:98087597-98087598	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs80022695	chr2:98087600-98087601	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs563088448	chr2:98087605-98087606	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs531865113	chr2:98087642-98087643	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs369768831	chr2:98087711-98087712	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs548912004	chr2:98087784-98087785	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs568354590	chr2:98087976-98087977	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs1043111	chr2:98088164-98088165	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs62152808	chr2:98088224-98088225	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs527719031	chr2:98088459-98088460	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs547466628	chr2:98088505-98088506	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs373777511	chr2:98088510-98088511	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs62152807	chr2:98088511-98088512	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs570586532	chr2:98088671-98088672	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs539563215	chr2:98088705-98088706	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs373636713	chr2:98088941-98088942	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs558291563	chr2:98088955-98088956	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs62152806	chr2:98088962-98088963	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs568712746	chr2:98089051-98089052	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs537744604	chr2:98089094-98089095	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs554885835	chr2:98089174-98089175	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs77334697	chr2:98089198-98089199	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs77544206	chr2:98089220-98089221	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs540250690	chr2:98089237-98089238	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs77378199	chr2:98089244-98089245	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs189313192	chr2:98089250-98089251	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs576976888	chr2:98089287-98089288	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs144554760	chr2:98089310-98089311	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs545919541	chr2:98089343-98089344	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs112558884	chr2:98089386-98089387	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs563071631	chr2:98089392-98089393	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs531974285	chr2:98089397-98089398	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs542143392	chr2:98089676-98089677	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs562436205	chr2:98089771-98089772	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs200170910	chr2:98090259-98090260	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs199490683	chr2:98090354-98090355	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs369497684	chr2:98090374-98090375	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98105600-98108000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:98105600-98108000	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:98105600-98108400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:98106200-98111800	Weak transcription	Fetal Brain Female	brain
5	chr2:98106600-98107000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:98106600-98107000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:98106600-98107000	ZNF genes & repeats	Fetal Stomach	stomach
8	chr2:98106800-98107000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:98106800-98107000	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:98106800-98107000	ZNF genes & repeats	Fetal Thymus	thymus
11	chr2:98107000-98110600	Weak transcription	Fetal Thymus	thymus
12	chr2:98107000-98112000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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