Variant report

Variant	nsv961621
Chromosome Location	chr2:96325464-96329560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:96329180-96329330	HBMEC	blood vessel:	n/a	n/a
2	CTCF	chr2:96326403-96326468	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr2:96327949-96328007	GM19240	blood:	n/a	n/a
4	FOSL2	chr2:96326204-96326535	HepG2	liver:	n/a	n/a
5	FOSL2	chr2:96327061-96327303	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:96326801-96326841	Gliobla	brain:	n/a	n/a
7	POLR2A	chr2:96327293-96327386	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:96326193-96326282	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:96326746-96326759	Gliobla	brain:	n/a	n/a
10	POLR2A	chr2:96326665-96326739	MCF-7	breast:	n/a	n/a
11	POLR2A	chr2:96326737-96326761	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr2:96327855-96328048	K562	blood:	n/a	n/a
13	POLR2A	chr2:96327231-96327243	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:96326670-96326744	MCF-7	breast:	n/a	n/a
15	POLR2A	chr2:96327116-96327221	K562	blood:	n/a	n/a
16	POLR2A	chr2:96326528-96326936	K562	blood:	n/a	n/a
17	POLR2A	chr2:96326195-96326425	K562	blood:	n/a	n/a
18	POLR2A	chr2:96327931-96328036	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr2:96326232-96326548	H1-hESC	embryonic stem cell:	n/a	n/a
20	RCOR1	chr2:96329247-96329255	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96327674-96327724	HepG2	liver:	n/a
2	chr2:96327674-96327724	AG10803	skin:	n/a
3	chr2:96327674-96327724	HAEpiC	amniotic membrane:	n/a
4	chr2:96327674-96327724	BJ	skin:	n/a
5	chr2:96327674-96327724	CMK	blood:	n/a
6	chr2:96327674-96327724	Jurkat	blood:	n/a
7	chr2:96327674-96327724	SK-N-SH	brain:	n/a
8	chr2:96327674-96327724	MCF-7	breast:	n/a
9	chr2:96327674-96327724	LNCaP	prostate:	n/a
10	chr2:96327674-96327724	SK-N-SH_RA	brain:	n/a
11	chr2:96327674-96327724	AoSMC	blood vessel:	n/a
12	chr2:96327674-96327724	GM19239	blood:	n/a
13	chr2:96327674-96327724	HRE	kidney:	n/a
14	chr2:96327674-96327724	Hela-S3	cervix:	n/a
15	chr2:96327674-96327724	HUVEC	blood vessel:	n/a
16	chr2:96327674-96327724	HEEpiC	esophagus:	n/a
17	chr2:96327674-96327724	SK-N-MC	brain:	n/a
18	chr2:96327674-96327724	NHBE	bronchial:	n/a
19	chr2:96327674-96327724	SKMC	muscle:	n/a
20	chr2:96327674-96327724	NHDF-neo	bronchial:	n/a
21	chr2:96327674-96327724	IMR90	lung:	fetal
22	chr2:96327674-96327724	MCF10A-Er-Src	breast:	n/a
23	chr2:96327674-96327724	GM12891	blood:	n/a
24	chr2:96327674-96327724	HL-60	blood:	n/a
25	chr2:96327674-96327724	HCF	heart:	n/a
26	chr2:96327674-96327724	HEK293	kidney:	embryo
27	chr2:96327674-96327724	SAEC	small airway:	n/a
28	chr2:96327674-96327724	Hepatocyte	liver:	n/a
29	chr2:96327674-96327724	AG09319	gingival:	n/a
30	chr2:96327674-96327724	HCPEpiC	choroid plexus:	n/a
31	chr2:96327674-96327724	A549	lung:	n/a
32	chr2:96327674-96327724	PFSK-1	brain:	n/a
33	chr2:96327674-96327724	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:96327674-96327724	AG04450	lung:	fetal
35	chr2:96327674-96327724	AG04449	skin:	fetal
36	chr2:96327674-96327724	U87	brain:	n/a
37	chr2:96327674-96327724	GM12892	blood:	n/a
38	chr2:96327674-96327724	HMEC	breast:	n/a
39	chr2:96327674-96327724	HCM	heart:	n/a
40	chr2:96327674-96327724	NH-A	brain:	n/a
41	chr2:96327674-96327724	PANC-1	pancreas:	n/a
42	chr2:96327674-96327724	GM06990	blood:	n/a
43	chr2:96327674-96327724	PrEC	prostate:	n/a
44	chr2:96327674-96327724	ProgFib	skin:	n/a
45	chr2:96327674-96327724	RPTEC	kidney:	n/a
46	chr2:96327674-96327724	ECC-1	luminal epithelium:	n/a
47	chr2:96327674-96327724	HIPEpiC	eye:	n/a
48	chr2:96327674-96327724	Caco-2	colon:	n/a
49	chr2:96327674-96327724	HRCEpiC	kidney:	n/a
50	chr2:96327674-96327724	K562	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000235584	TF binding region
ENSG00000235584	CpG island

Extended variants
information (count: 162 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs376724689	chr2:96326011-96326012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529243799	chr2:96326014-96326015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200203558	chr2:96326084-96326085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369304698	chr2:96326087-96326088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190466514	chr2:96326209-96326210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371682900	chr2:96326210-96326211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534986656	chr2:96326235-96326236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551597782	chr2:96326261-96326262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113387771	chr2:96326283-96326284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79158634	chr2:96326297-96326298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181607871	chr2:96326312-96326313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186799430	chr2:96326323-96326324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557174866	chr2:96326362-96326363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573857152	chr2:96326369-96326370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536551998	chr2:96326437-96326438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556497993	chr2:96326462-96326463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571962591	chr2:96326478-96326479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397843406	chr2:96326483-96326484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541056023	chr2:96326547-96326548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397843405	chr2:96326587-96326588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577714491	chr2:96326617-96326618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543532418	chr2:96326620-96326621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs397726107	chr2:96326657-96326658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563481765	chr2:96326686-96326687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397729970	chr2:96326691-96326692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542963901	chr2:96326695-96326696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559561533	chr2:96326704-96326705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528356716	chr2:96326710-96326711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190407667	chr2:96326720-96326721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571544085	chr2:96326721-96326722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530923387	chr2:96326726-96326727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550614409	chr2:96326745-96326746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567543160	chr2:96326770-96326771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536413654	chr2:96326773-96326774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181277928	chr2:96326778-96326779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397843404	chr2:96326790-96326791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397787632	chr2:96326796-96326797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397843403	chr2:96326809-96326810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567180564	chr2:96326831-96326832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185822047	chr2:96326845-96326846	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs370387040	chr2:96326846-96326847	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs577525770	chr2:96326876-96326877	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs543543925	chr2:96326877-96326878	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs397843402	chr2:96326880-96326881	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs189784756	chr2:96326910-96326911	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs397843410	chr2:96326963-96326964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542874323	chr2:96326978-96326979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375081926	chr2:96326984-96326985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559283079	chr2:96326991-96326992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397843409	chr2:96326992-96326993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Neuroblastoma	18574593	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96326000-96329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:96326600-96326800	Enhancers	Lung	lung
3	chr2:96326800-96333600	Weak transcription	Lung	lung
4	chr2:96328000-96330600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:96328200-96328800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:96328200-96329000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:96328200-96330600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:96328200-96336400	Weak transcription	Right Atrium	heart
9	chr2:96328400-96330000	Enhancers	Thymus	Thymus
10	chr2:96328600-96330400	Enhancers	Fetal Thymus	thymus
11	chr2:96328800-96329800	Enhancers	Fetal Lung	lung
12	chr2:96328800-96330000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:96328800-96330000	Enhancers	Spleen	Spleen
14	chr2:96329000-96329400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:96329000-96329600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr2:96329000-96329800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:96329000-96330000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:96329200-96330000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:96329200-96330400	Enhancers	Primary B cells from cord blood	blood
20	chr2:96329200-96330600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:96329400-96329800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:96329400-96330000	Enhancers	Primary hematopoietic stem cells	blood
23	chr2:96329400-96330200	Enhancers	Primary B cells from peripheral blood	blood

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