Variant report

Variant	nsv961839
Chromosome Location	chr2:98070308-98146257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:365)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:121)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:98139756-98139918	GM12878	blood:	n/a	n/a
2	BATF	chr2:98096792-98097131	GM12878	blood:	n/a	n/a
3	BATF	chr2:98096813-98097157	GM12878	blood:	n/a	n/a
4	BATF	chr2:98137602-98137837	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:98132740-98132967	HepG2	liver:	n/a	n/a
6	BHLHE40	chr2:98139694-98139945	HepG2	liver:	n/a	n/a
7	CTCF	chr2:98071444-98071486	LNCaP	prostate:	n/a	n/a
8	CTCF	chr2:98073649-98073708	LNCaP	prostate:	n/a	n/a
9	CTCF	chr2:98115849-98115882	Medullo	brain:	n/a	n/a
10	CTCF	chr2:98070685-98070752	GM10266	blood:	n/a	n/a
11	CTCF	chr2:98087828-98087837	GM13976	blood:	n/a	n/a
12	CTCF	chr2:98103227-98103432	GM13976	blood:	n/a	n/a
13	CTCF	chr2:98105392-98105473	GM10248	blood:	n/a	n/a
14	CTCF	chr2:98087773-98087824	GM13976	blood:	n/a	n/a
15	CTCF	chr2:98115886-98115922	Medullo	brain:	n/a	n/a
16	CTCF	chr2:98071602-98071693	GM13976	blood:	n/a	n/a
17	CTCF	chr2:98141357-98141373	LNCaP	prostate:	n/a	n/a
18	CTCF	chr2:98141357-98141383	GM13976	blood:	n/a	n/a
19	CTCF	chr2:98118020-98118072	Medullo	brain:	n/a	n/a
20	CTCF	chr2:98097843-98097885	GM13976	blood:	n/a	n/a
21	CTCF	chr2:98137517-98137596	Medullo	brain:	n/a	n/a
22	CTCF	chr2:98097794-98097840	GM13976	blood:	n/a	n/a
23	CTCF	chr2:98109369-98109424	GM20000	blood:	n/a	n/a
24	CTCF	chr2:98111843-98111868	Medullo	brain:	n/a	n/a
25	CTCF	chr2:98090896-98090970	GM13976	blood:	n/a	n/a
26	EP300	chr2:98128159-98128332	GM12878	blood:	n/a	n/a
27	EP300	chr2:98126267-98126522	GM12878	blood:	n/a	n/a
28	FOSL2	chr2:98139578-98140083	HepG2	liver:	n/a	n/a
29	FOSL2	chr2:98126557-98126864	HepG2	liver:	n/a	n/a
30	FOSL2	chr2:98099588-98108266	HepG2	liver:	n/a	chr2:98102331-98102345
31	FOSL2	chr2:98128062-98128322	HepG2	liver:	n/a	n/a
32	FOSL2	chr2:98139360-98140032	HepG2	liver:	n/a	chr2:98139577-98139589
33	FOSL2	chr2:98096474-98098496	HepG2	liver:	n/a	n/a
34	FOSL2	chr2:98089308-98089611	HepG2	liver:	n/a	n/a
35	FOSL2	chr2:98122050-98122306	HepG2	liver:	n/a	n/a
36	FOSL2	chr2:98108316-98108660	HepG2	liver:	n/a	n/a
37	FOSL2	chr2:98098560-98099088	HepG2	liver:	n/a	n/a
38	FOSL2	chr2:98095426-98096283	HepG2	liver:	n/a	n/a
39	FOSL2	chr2:98119120-98119407	HepG2	liver:	n/a	n/a
40	FOSL2	chr2:98092271-98092550	HepG2	liver:	n/a	n/a
41	FOSL2	chr2:98132610-98132991	HepG2	liver:	n/a	n/a
42	FOSL2	chr2:98122757-98123002	HepG2	liver:	n/a	n/a
43	FOSL2	chr2:98085266-98085669	HepG2	liver:	n/a	n/a
44	FOXA1	chr2:98142240-98142419	T-47D	breast:	n/a	n/a
45	FOXA1	chr2:98139412-98140203	HepG2	liver:	n/a	chr2:98139935-98139947 chr2:98139554-98139566
46	FOXA2	chr2:98142097-98142627	A549	lung:	n/a	n/a
47	FOXA2	chr2:98142232-98142551	A549	lung:	n/a	n/a
48	GABPA	chr2:98139730-98139923	Hela-S3	cervix:	n/a	n/a
49	GATA2	chr2:98070433-98070855	K562	blood:	n/a	n/a
50	IRF4	chr2:98122736-98123137	GM12878	blood:	n/a	n/a

No data

(count:121 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD36-2	chr2:98088553-98088813	XLOC_001584
2	lnc-ACTR1B-3	chr2:98088770-98088865	NONHSAT072632
3	lnc-ACTR1B-3	chr2:98089395-98089511	ENSG00000230606.6
4	lnc-ACTR1B-3	chr2:98091457-98091693	ENSG00000230606.6
5	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
6	lnc-ACTR1B-3	chr2:98088770-98088849	ENSG00000230606
7	lnc-ANKRD36-2	chr2:98086678-98086841	XLOC_001584
8	lnc-ACTR1B-3	chr2:98088032-98088252	NR_040097
9	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
10	lnc-ACTR1B-6	chr2:98140412-98141439	NONHSAT072652
11	lnc-ACTR1B-3	chr2:98091457-98091582	ENSG00000230606.6
12	lnc-ACTR1B-3	chr2:98088032-98088090	NONHSAT072636
13	lnc-ACTR1B-3	chr2:98088770-98088865	ENSG00000230606.6
14	lnc-ACTR1B-3	chr2:98088770-98088865	ENSG00000230606.6
15	lnc-ACTR1B-3	chr2:98081774-98082014	ENSG00000230606.6
16	lnc-ACTR1B-3	chr2:98098880-98099107	ENSG00000230606.6
17	lnc-ACTR1B-3	chr2:98088770-98088854	ENSG00000230606.6
18	lnc-ACTR1B-3	chr2:98088548-98088677	NR_040097
19	lnc-ACTR1B-3	chr2:98089391-98089511	ENSG00000230606.6
20	lnc-ACTR1B-8	chr2:98108978-98109319	NONHSAT072651
21	lnc-ACTR1B-2	chr2:98104121-98104135	XLOC_002219
22	lnc-ACTR1B-3	chr2:98081833-98082014	ENSG00000230606.6
23	lnc-ACTR1B-3	chr2:98089395-98089994	ENSG00000230606.6
24	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
25	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
26	lnc-ACTR1B-3	chr2:98088770-98088865	ENSG00000230606
27	lnc-ACTR1B-3	chr2:98088770-98088981	ENSG00000230606.6
28	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606.6
29	lnc-ACTR1B-3	chr2:98088089-98088677	ENSG00000230606
30	lnc-ACTR1B-3	chr2:98081839-98082014	ENSG00000230606.6
31	lnc-ACTR1B-3	chr2:98088032-98088249	ENSG00000230606.6
32	lnc-ACTR1B-3	chr2:98088548-98088677	NONHSAT072631
33	lnc-ACTR1B-4	chr2:98071668-98071970	XLOC_002217
34	lnc-ACTR1B-3	chr2:98098880-98098961	ENSG00000230606.6
35	lnc-ACTR1B-8	chr2:98123499-98123528	NONHSAT072651
36	lnc-ACTR1B-3	chr2:98088548-98088677	NONHSAT072638
37	lnc-ACTR1B-3	chr2:98088770-98088854	ENSG00000230606.6
38	lnc-ACTR1B-3	chr2:98088770-98088865	NONHSAT072631
39	lnc-ACTR1B-3	chr2:98081083-98082014	ENSG00000230606.6
40	lnc-ACTR1B-3	chr2:98091457-98091651	ENSG00000230606.6
41	lnc-ACTR1B-3	chr2:98081922-98082014	ENSG00000230606.6
42	lnc-ACTR1B-3	chr2:98088770-98088865	ENSG00000230606.6
43	lnc-ACTR1B-8	chr2:98124027-98124120	NONHSAT072651
44	lnc-ANKRD36-2	chr2:98086771-98086841	ENSG00000241481.2
45	lnc-ACTR1B-3	chr2:98088770-98089122	ENSG00000230606
46	lnc-ACTR1B-3	chr2:98088032-98088252	ENSG00000230606.6
47	lnc-ACTR1B-3	chr2:98081851-98082014	ENSG00000230606.6
48	lnc-ACTR1B-3	chr2:98088548-98088677	ENSG00000230606
49	lnc-ACTR1B-2	chr2:98104342-98104688	XLOC_002219
50	lnc-ACTR1B-3	chr2:98088770-98088912	NONHSAT072636

No data

Variant related genes	Relation type
ANKRD36B	TF binding region
ENSG00000237837	TF binding region
ENSG00000235833	TF binding region
ENSG00000241481	TF binding region
ENSG00000230606	TF binding region
LYSMD1	miRNA target sites

Extended variants
information (count: 456 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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:58 , 50 per page) page: 1 2

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
13	chr2:98139000-98142000	Weak transcription	Fetal Brain Female	brain
14	chr2:98139600-98142400	Weak transcription	Primary B cells from cord blood	blood
15	chr2:98140400-98141800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:98140400-98142000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:98140400-98142200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:98140600-98143800	Weak transcription	Primary T cells from cord blood	blood
19	chr2:98140800-98142400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:98140800-98142400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:98140800-98152800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:98140800-98187600	Weak transcription	Fetal Stomach	stomach
23	chr2:98141200-98144800	Weak transcription	Thymus	Thymus
24	chr2:98141800-98144200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:98141800-98161000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:98141800-98162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:98142000-98142800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:98142000-98142800	ZNF genes & repeats	Fetal Brain Female	brain
29	chr2:98142000-98142800	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr2:98142000-98168000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:98142200-98142400	Weak transcription	Brain Germinal Matrix	brain
32	chr2:98142200-98142800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:98142200-98142800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:98142200-98142800	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr2:98142200-98142800	ZNF genes & repeats	Lung	lung
36	chr2:98142400-98142800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:98142400-98142800	Strong transcription	Primary B cells from cord blood	blood
38	chr2:98142400-98142800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr2:98142400-98143600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:98142600-98143400	ZNF genes & repeats	Ovary	ovary
41	chr2:98142600-98144400	Weak transcription	Brain Germinal Matrix	brain
42	chr2:98142800-98153200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:98142800-98155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:98142800-98155800	Weak transcription	Fetal Brain Female	brain
45	chr2:98142800-98156000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:98142800-98162200	Weak transcription	Primary B cells from cord blood	blood
47	chr2:98142800-98165000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:98142800-98171400	Weak transcription	Fetal Intestine Small	intestine
49	chr2:98142800-98174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:98142800-98177800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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