Variant report

Variant	nsv961840
Chromosome Location	chr2:98244565-98259293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:98254547-98254681	Medullo	brain:	n/a	n/a
2	CTCF	chr2:98249867-98249907	GM13976	blood:	n/a	n/a
3	MAFF	chr2:98251596-98251747	HepG2	liver:	n/a	n/a
4	MAFK	chr2:98252065-98252218	HepG2	liver:	n/a	chr2:98252149-98252159 chr2:98252150-98252159
5	MAFK	chr2:98251571-98251710	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:98246101-98246189	GM12878	blood:	n/a	n/a
7	SPI1	chr2:98256071-98256237	K562	blood:	n/a	chr2:98256102-98256115 chr2:98256103-98256116 chr2:98256105-98256114
8	SPI1	chr2:98256048-98256336	HL-60	blood:	n/a	chr2:98256102-98256115 chr2:98256103-98256116 chr2:98256105-98256114
9	SPI1	chr2:98256065-98256221	K562	blood:	n/a	chr2:98256102-98256115 chr2:98256103-98256116 chr2:98256105-98256114

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:98256494-98256544	HRPEpiC	eye:	n/a
2	chr2:98256494-98256544	HAEpiC	amniotic membrane:	n/a
3	chr2:98256494-98256544	ovcar-3	ovarian:	n/a
4	chr2:98256494-98256544	HEEpiC	esophagus:	n/a
5	chr2:98256494-98256544	MCF-7	breast:	n/a
6	chr2:98256494-98256544	GM12891	blood:	n/a
7	chr2:98256494-98256544	CMK	blood:	n/a
8	chr2:98256494-98256544	AG10803	skin:	n/a
9	chr2:98256494-98256544	SKMC	muscle:	n/a
10	chr2:98256494-98256544	HCPEpiC	choroid plexus:	n/a
11	chr2:98256494-98256544	Hela-S3	cervix:	n/a
12	chr2:98256494-98256544	A549	lung:	n/a
13	chr2:98256494-98256544	GM06990	blood:	n/a
14	chr2:98256494-98256544	T-47D	breast:	n/a
15	chr2:98256494-98256544	GM19239	blood:	n/a
16	chr2:98256494-98256544	MCF10A-Er-Src	breast:	n/a
17	chr2:98256494-98256544	IMR90	lung:	fetal
18	chr2:98256494-98256544	SK-N-SH	brain:	n/a
19	chr2:98256494-98256544	ProgFib	skin:	n/a
20	chr2:98256494-98256544	HCF	heart:	n/a
21	chr2:98256494-98256544	PANC-1	pancreas:	n/a
22	chr2:98256494-98256544	ECC-1	luminal epithelium:	n/a
23	chr2:98256494-98256544	BJ	skin:	n/a
24	chr2:98256494-98256544	NHBE	bronchial:	n/a
25	chr2:98256494-98256544	Jurkat	blood:	n/a
26	chr2:98256494-98256544	SAEC	small airway:	n/a
27	chr2:98256494-98256544	K562	blood:	n/a
28	chr2:98256494-98256544	U87	brain:	n/a
29	chr2:98256494-98256544	PFSK-1	brain:	n/a
30	chr2:98256494-98256544	LNCaP	prostate:	n/a
31	chr2:98256494-98256544	NT2-D1	testis:	n/a
32	chr2:98256494-98256544	AoSMC	blood vessel:	n/a
33	chr2:98256494-98256544	SK-N-SH_RA	brain:	n/a
34	chr2:98256494-98256544	AG04450	lung:	fetal
35	chr2:98256494-98256544	HEK293	kidney:	embryo
36	chr2:98256494-98256544	HRE	kidney:	n/a
37	chr2:98256494-98256544	HepG2	liver:	n/a
38	chr2:98256494-98256544	AG04449	skin:	fetal
39	chr2:98256494-98256544	NB4	blood:	n/a
40	chr2:98256494-98256544	GM12892	blood:	n/a
41	chr2:98256494-98256544	AG09319	gingival:	n/a
42	chr2:98256494-98256544	BE2_C	brain:	n/a
43	chr2:98256494-98256544	HNPCEpiC	eye:	n/a
44	chr2:98256494-98256544	HCT-116	colon:	n/a
45	chr2:98256494-98256544	NH-A	brain:	n/a
46	chr2:98256494-98256544	HUVEC	blood vessel:	n/a
47	chr2:98256494-98256544	RPTEC	kidney:	n/a
48	chr2:98256494-98256544	AG09309	skin:	n/a
49	chr2:98256494-98256544	NHDF-neo	bronchial:	n/a
50	chr2:98256494-98256544	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98255861..98257628-chr2:98260670..98262537,2	K562	blood:
2	chr2:98250388..98251913-chr2:98260315..98262590,2	MCF-7	breast:

No data

Variant related genes	Relation type
UBTFL6	TF binding region
COX5B	TF binding region
UBTFL6	CpG island
COX5B	CpG island
ENSG00000135940	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs193158658	chr2:98250446-98250447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs541743459	chr2:98250548-98250549	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564116783	chr2:98250554-98250555	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542273803	chr2:98250663-98250664	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577661450	chr2:98250716-98250717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543499614	chr2:98250784-98250785	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563399899	chr2:98250842-98250843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529347337	chr2:98250862-98250863	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182859698	chr2:98250864-98250865	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371175955	chr2:98250878-98250879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527571930	chr2:98250881-98250882	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547718364	chr2:98250899-98250900	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188319668	chr2:98251005-98251006	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539399489	chr2:98251047-98251048	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs142555792	chr2:98251100-98251101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192252213	chr2:98251115-98251116	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183723602	chr2:98251118-98251119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146950540	chr2:98251156-98251157	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527712483	chr2:98251157-98251158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189311318	chr2:98251202-98251203	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535003009	chr2:98251269-98251270	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558070542	chr2:98251295-98251296	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545790927	chr2:98251381-98251382	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192651959	chr2:98251383-98251384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553174722	chr2:98251409-98251410	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543364466	chr2:98251424-98251425	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184733634	chr2:98251428-98251429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189796383	chr2:98251443-98251444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs137985394	chr2:98251475-98251476	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561733852	chr2:98251525-98251526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527523638	chr2:98251692-98251693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541237541	chr2:98251705-98251706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs114516352	chr2:98251722-98251723	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs533287290	chr2:98251741-98251742	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs115843641	chr2:98251790-98251791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372899139	chr2:98251851-98251852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149447297	chr2:98251885-98251886	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182061679	chr2:98252536-98252537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186302752	chr2:98252542-98252543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148205557	chr2:98252565-98252566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574027971	chr2:98252632-98252633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542747002	chr2:98252681-98252682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553392749	chr2:98252692-98252693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573260438	chr2:98252791-98252792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541200661	chr2:98252839-98252840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189965646	chr2:98252922-98252923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533249456	chr2:98252943-98252944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62153460	chr2:98253038-98253039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376325798	chr2:98253132-98253133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370608935	chr2:98253147-98253148	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98252400-98253400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:98252800-98254800	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links