Variant report

Variant	nsv963670
Chromosome Location	chr2:98288008-98289601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:98288941-98288988	H1-hESC	embryonic stem cell:	n/a	chr2:98288949-98288957
2	CTCF	chr2:98288000-98288150	GM12864	blood:	n/a	n/a
3	CTCF	chr2:98288780-98288930	HepG2	liver:	n/a	n/a
4	IRF1	chr2:98289378-98289569	K562	blood:	n/a	chr2:98289409-98289429 chr2:98289415-98289429 chr2:98289413-98289427 chr2:98289417-98289428 chr2:98289411-98289425
5	POLR2A	chr2:98288868-98288883	Gliobla	brain:	n/a	n/a
6	POLR2A	chr2:98288829-98289092	MCF-7	breast:	n/a	n/a
7	POLR2A	chr2:98288771-98288788	MCF-7	breast:	n/a	n/a
8	POLR2A	chr2:98289094-98289124	MCF-7	breast:	n/a	n/a
9	POLR2A	chr2:98288704-98288705	MCF-7	breast:	n/a	n/a
10	POLR2A	chr2:98288851-98288866	K562	blood:	n/a	n/a
11	POLR2A	chr2:98288707-98289216	MCF-7	breast:	n/a	n/a
12	POLR2A	chr2:98289222-98289251	MCF-7	breast:	n/a	n/a
13	POLR2A	chr2:98288907-98288984	Gliobla	brain:	n/a	n/a
14	POLR2A	chr2:98288555-98288818	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:98288577-98288602	Gliobla	brain:	n/a	n/a
16	POLR2A	chr2:98288252-98288410	K562	blood:	n/a	n/a
17	POLR2A	chr2:98288872-98289273	K562	blood:	n/a	n/a
18	POLR2A	chr2:98289277-98289279	K562	blood:	n/a	n/a
19	POLR2A	chr2:98288703-98288815	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:98286306..98287909-chr2:98288768..98291732,2	MCF-7	breast:
2	chr2:98277540..98280673-chr2:98288354..98290107,4	K562	blood:
3	chr2:98260499..98265219-chr2:98284794..98288071,4	MCF-7	breast:
4	chr2:98277787..98279697-chr2:98287927..98289913,2	MCF-7	breast:
5	chr2:98261015..98264268-chr2:98289158..98291782,3	K562	blood:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZAP70-2	chr2:98287794-98288165	ENSG00000228486.5
2	lnc-ZAP70-2	chr2:98287794-98288192	ENSG00000228486.5
3	lnc-ZAP70-2	chr2:98287794-98288192	ENSG00000228486.5
4	lnc-ZAP70-2	chr2:98287794-98288023	ENSG00000228486.5
5	lnc-ZAP70-2	chr2:98287794-98288251	ENSG00000228486.2
6	lnc-ZAP70-2	chr2:98287794-98288169	ENSG00000228486.5
7	lnc-ZAP70-2	chr2:98287794-98288169	ENSG00000228486.5
8	lnc-ZAP70-2	chr2:98287794-98288169	ENSG00000228486.5
9	lnc-ZAP70-2	chr2:98287806-98289283	NONHSAT072674
10	lnc-ZAP70-2	chr2:98287794-98288037	ENSG00000228486.5
11	lnc-ZAP70-2	chr2:98287794-98288037	ENSG00000228486.5
12	lnc-ZAP70-2	chr2:98287794-98288192	ENSG00000228486.5
13	lnc-ZAP70-2	chr2:98287794-98288037	NONHSAT072667
14	lnc-ZAP70-2	chr2:98287794-98288037	ENSG00000228486.5
15	lnc-ZAP70-2	chr2:98287864-98288192	ENSG00000228486.5
16	lnc-ZAP70-2	chr2:98287436-98288169	ENSG00000228486.5

No data

Variant related genes	Relation type
LINC01125	TF binding region
ENSG00000135940	chromatin interactions
ENSG00000228486	chromatin interactions
ENSG00000115073	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187108840	chr2:98288017-98288018	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs551743186	chr2:98288072-98288073	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs560418989	chr2:98288077-98288078	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs534372518	chr2:98288087-98288088	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs569839926	chr2:98288101-98288102	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs75797252	chr2:98288150-98288151	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs191211524	chr2:98288183-98288184	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs537257751	chr2:98288200-98288201	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs79695474	chr2:98288201-98288202	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs555223388	chr2:98288244-98288245	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs574897294	chr2:98288257-98288258	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs574281089	chr2:98288263-98288264	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs543041521	chr2:98288268-98288269	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs183000865	chr2:98288352-98288353	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs573285969	chr2:98288450-98288451	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs545474436	chr2:98288491-98288492	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs565259418	chr2:98288502-98288503	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs187368711	chr2:98288528-98288529	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs73959769	chr2:98288549-98288550	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563594056	chr2:98288584-98288585	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs529187708	chr2:98288676-98288677	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs548874392	chr2:98288706-98288707	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs565290440	chr2:98288755-98288756	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs534338633	chr2:98288788-98288789	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs551026956	chr2:98288799-98288800	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs571289996	chr2:98288851-98288852	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs572136454	chr2:98288922-98288923	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs568034396	chr2:98288927-98288928	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs557319493	chr2:98288934-98288935	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs574265946	chr2:98288953-98288954	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs536908354	chr2:98289007-98289008	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs553709179	chr2:98289025-98289026	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs573248853	chr2:98289093-98289094	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs370788509	chr2:98289115-98289116	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs376567547	chr2:98289142-98289143	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs192254513	chr2:98289197-98289198	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs575694485	chr2:98289260-98289261	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs570699880	chr2:98289283-98289284	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs543591939	chr2:98289304-98289305	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs370866648	chr2:98289380-98289381	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs373956856	chr2:98289438-98289439	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs545790977	chr2:98289452-98289453	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs529056690	chr2:98289475-98289476	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs548837261	chr2:98289485-98289486	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs558072554	chr2:98289546-98289547	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs559236873	chr2:98289559-98289560	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98281000-98290400	Weak transcription	Spleen	Spleen
2	chr2:98281000-98323800	Weak transcription	Gastric	stomach
3	chr2:98281200-98289600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:98281400-98289400	Weak transcription	Lung	lung
5	chr2:98281400-98290000	Weak transcription	Left Ventricle	heart
6	chr2:98281400-98295200	Weak transcription	Esophagus	oesophagus
7	chr2:98281600-98288800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:98281600-98289600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:98281600-98289600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:98281600-98289800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:98281600-98290000	Weak transcription	Fetal Intestine Small	intestine
12	chr2:98281600-98290200	Weak transcription	Pancreas	Pancrea
13	chr2:98281600-98290400	Weak transcription	Thymus	Thymus
14	chr2:98281600-98291400	Weak transcription	Right Atrium	heart
15	chr2:98281600-98292000	Weak transcription	Adipose Nuclei	Adipose
16	chr2:98281600-98292800	Weak transcription	HSMM	muscle
17	chr2:98281600-98293200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:98281600-98294800	Weak transcription	Brain Anterior Caudate	brain
19	chr2:98281600-98295400	Weak transcription	Right Ventricle	heart
20	chr2:98281600-98298800	Weak transcription	Aorta	Aorta
21	chr2:98281800-98289000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:98281800-98289200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:98281800-98289600	Weak transcription	GM12878-XiMat	blood
24	chr2:98281800-98293800	Weak transcription	Brain Angular Gyrus	brain
25	chr2:98281800-98296200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:98281800-98296200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:98282000-98290000	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:98282000-98292000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:98282000-98293800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:98285600-98292200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:98286200-98292000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:98286400-98288200	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:98286400-98289600	Weak transcription	Fetal Stomach	stomach
34	chr2:98286400-98289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:98288000-98288400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:98288200-98288600	Enhancers	Fetal Muscle Leg	muscle
37	chr2:98288400-98289600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:98288600-98293600	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:98289000-98289800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:98289200-98289800	Enhancers	K562	blood
41	chr2:98289200-98290000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:98289200-98291600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:98289200-98292000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:98289400-98290400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr2:98289400-98292200	Enhancers	Primary hematopoietic stem cells	blood
46	chr2:98289600-98289800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:98289600-98290000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:98289600-98290400	Enhancers	Fetal Thymus	thymus
49	chr2:98289600-98290400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr2:98289600-98291600	Enhancers	GM12878-XiMat	blood

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