Variant report

Variant	nsv961457
Chromosome Location	chr2:98076686-98089521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:96)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:98087773-98087824	GM13976	blood:	n/a	n/a
2	CTCF	chr2:98087828-98087837	GM13976	blood:	n/a	n/a
3	FOSL2	chr2:98089308-98089611	HepG2	liver:	n/a	n/a
4	FOSL2	chr2:98085266-98085669	HepG2	liver:	n/a	n/a
5	MAFF	chr2:98079628-98079999	HepG2	liver:	n/a	chr2:98079808-98079822 chr2:98079809-98079827
6	MAFF	chr2:98079630-98079994	K562	blood:	n/a	chr2:98079808-98079822 chr2:98079809-98079827
7	MAFK	chr2:98079573-98079909	GM12878	blood:	n/a	chr2:98079808-98079822 chr2:98079805-98079825 chr2:98079813-98079827 chr2:98079807-98079823 chr2:98079804-98079819
8	MAFK	chr2:98079626-98080003	IMR90	lung:	n/a	chr2:98079808-98079822 chr2:98079805-98079825 chr2:98079813-98079827 chr2:98079807-98079823 chr2:98079804-98079819
9	MAFK	chr2:98079630-98079997	K562	blood:	n/a	chr2:98079808-98079822 chr2:98079805-98079825 chr2:98079813-98079827 chr2:98079807-98079823 chr2:98079804-98079819
10	MAFK	chr2:98079633-98079992	HepG2	liver:	n/a	chr2:98079808-98079822 chr2:98079805-98079825 chr2:98079813-98079827 chr2:98079807-98079823 chr2:98079804-98079819
11	MAFK	chr2:98079627-98080003	HepG2	liver:	n/a	chr2:98079808-98079822 chr2:98079805-98079825 chr2:98079813-98079827 chr2:98079807-98079823 chr2:98079804-98079819
12	MAFK	chr2:98079790-98079826	H1-hESC	embryonic stem cell:	n/a	chr2:98079808-98079822 chr2:98079805-98079825 chr2:98079807-98079823 chr2:98079804-98079819
13	MAFK	chr2:98079630-98080000	Hela-S3	cervix:	n/a	chr2:98079808-98079822 chr2:98079805-98079825 chr2:98079813-98079827 chr2:98079807-98079823 chr2:98079804-98079819
14	POLR2A	chr2:98087048-98087334	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:98089084-98089783	GM12891	blood:	n/a	n/a
16	POLR2A	chr2:98088826-98089645	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr2:98087760-98088114	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:98086909-98086986	A549	lung:	n/a	n/a
19	POLR2A	chr2:98087865-98088127	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr2:98089209-98089923	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:98089039-98089454	U87	brain:	n/a	n/a
22	POLR2A	chr2:98088828-98089585	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr2:98087939-98088009	Gliobla	brain:	n/a	n/a
24	POLR2A	chr2:98088926-98089221	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr2:98088795-98090083	GM12891	blood:	n/a	n/a
26	POLR2A	chr2:98089084-98089352	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr2:98089096-98089304	U87	brain:	n/a	n/a
28	POLR2A	chr2:98088742-98089753	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:98089175-98089388	ProgFib	skin:	n/a	n/a
30	POLR2A	chr2:98087067-98087423	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr2:98088021-98088058	Gliobla	brain:	n/a	n/a
32	POLR2A	chr2:98084764-98085077	GM12891	blood:	n/a	n/a
33	POLR2A	chr2:98085126-98085540	GM12878	blood:	n/a	n/a
34	SPI1	chr2:98087811-98088015	GM12878	blood:	n/a	n/a
35	USF1	chr2:98085304-98085454	HepG2	liver:	n/a	chr2:98085385-98085396

No data

(count:96 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR1B-3	chr2:98088032-98088249	ENSG00000230606.6
2	lnc-ACTR1B-3	chr2:98088770-98089122	ENSG00000230606
3	lnc-ACTR1B-3	chr2:98088770-98088865	ENSG00000230606
4	lnc-ACTR1B-3	chr2:98081798-98082014	ENSG00000230606.6
5	lnc-ACTR1B-3	chr2:98088032-98088090	NONHSAT072636
6	lnc-ACTR1B-3	chr2:98088770-98088865	ENSG00000230606.6
7	lnc-ACTR1B-3	chr2:98081683-98082014	ENSG00000230606
8	lnc-ACTR1B-3	chr2:98088770-98088865	ENSG00000230606.6
9	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
10	lnc-ACTR1B-3	chr2:98088770-98091049	ENSG00000230606.6
11	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
12	lnc-ACTR1B-3	chr2:98088173-98088252	NONHSAT072636
13	lnc-ACTR1B-3	chr2:98081774-98082014	ENSG00000230606.6
14	lnc-ACTR1B-3	chr2:98088576-98088677	ENSG00000230606.6
15	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
16	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
17	lnc-ACTR1B-3	chr2:98081928-98082014	NONHSAT072638
18	lnc-ACTR1B-3	chr2:98081774-98082014	ENSG00000230606
19	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
20	lnc-ANKRD36-2	chr2:98088553-98089158	ENSG00000241481.2
21	lnc-ANKRD36-2	chr2:98086771-98086841	ENSG00000241481.2
22	lnc-ACTR1B-3	chr2:98081676-98082014	NONHSAT072631
23	lnc-ACTR1B-3	chr2:98088032-98088249	ENSG00000230606.6
24	lnc-ACTR1B-3	chr2:98089395-98089794	ENSG00000230606
25	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
26	lnc-ANKRD36-2	chr2:98087758-98088195	ENSG00000241481.2
27	lnc-ACTR1B-3	chr2:98088770-98088865	ENSG00000230606.6
28	lnc-ACTR1B-3	chr2:98088519-98088677	NONHSAT072644
29	lnc-ACTR1B-3	chr2:98089391-98089496	ENSG00000230606.6
30	lnc-ACTR1B-3	chr2:98089391-98089511	ENSG00000230606.6
31	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
32	lnc-ACTR1B-3	chr2:98088770-98088865	ENSG00000230606.6
33	lnc-ACTR1B-3	chr2:98088770-98088865	NONHSAT072631
34	lnc-ACTR1B-3	chr2:98088032-98088090	ENSG00000230606.6
35	lnc-ACTR1B-3	chr2:98088629-98088677	ENSG00000230606.6
36	lnc-ACTR1B-3	chr2:98089391-98089511	ENSG00000230606.6
37	lnc-ACTR1B-3	chr2:98088770-98088865	ENSG00000230606.6
38	lnc-ACTR1B-3	chr2:98088770-98088854	ENSG00000230606.6
39	lnc-ACTR1B-3	chr2:98087567-98088252	NONHSAT072642
40	lnc-ACTR1B-3	chr2:98087740-98088252	ENSG00000230606.6
41	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606
42	lnc-ACTR1B-3	chr2:98088652-98088677	ENSG00000230606
43	lnc-ACTR1B-3	chr2:98088032-98088252	NR_040097
44	lnc-ACTR1B-3	chr2:98088548-98088677	NONHSAT072631
45	lnc-ACTR1B-3	chr2:98088770-98090673	NONHSAT072638
46	lnc-ACTR1B-3	chr2:98088770-98091049	ENSG00000230606
47	lnc-ACTR1B-3	chr2:98081676-98082014	NR_040097
48	lnc-ACTR1B-3	chr2:98088548-98088677	NONHSAT072636
49	lnc-ACTR1B-3	chr2:98088032-98088252	ENSG00000230606
50	lnc-ACTR1B-3	chr2:98088770-98091348	NONHSAT072642

No data

Variant related genes	Relation type
ENSG00000237837	TF binding region
ENSG00000241481	TF binding region
ENSG00000230606	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

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

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:0 , 50 per page) page:

No data

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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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