Variant report

Variant	nsv582710
Chromosome Location	chr2:113831643-113832981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:113832957-113833007	LNCaP	prostate:	n/a
2	chr2:113832957-113833007	HRE	kidney:	n/a
3	chr2:113832957-113833007	Hela-S3	cervix:	n/a
4	chr2:113832957-113833007	HCPEpiC	choroid plexus:	n/a
5	chr2:113832957-113833007	AG09309	skin:	n/a
6	chr2:113832957-113833007	GM12891	blood:	n/a
7	chr2:113832957-113833007	SKMC	muscle:	n/a
8	chr2:113832957-113833007	NHBE	bronchial:	n/a
9	chr2:113832957-113833007	ECC-1	luminal epithelium:	n/a
10	chr2:113832957-113833007	ProgFib	skin:	n/a
11	chr2:113832957-113833007	NT2-D1	testis:	n/a
12	chr2:113832957-113833007	MCF-7	breast:	n/a
13	chr2:113832957-113833007	BE2_C	brain:	n/a
14	chr2:113832957-113833007	Caco-2	colon:	n/a
15	chr2:113832957-113833007	HUVEC	blood vessel:	n/a
16	chr2:113832957-113833007	ovcar-3	ovarian:	n/a
17	chr2:113832957-113833007	AG10803	skin:	n/a
18	chr2:113832957-113833007	Hepatocyte	liver:	n/a
19	chr2:113832957-113833007	NH-A	brain:	n/a
20	chr2:113832957-113833007	HIPEpiC	eye:	n/a
21	chr2:113832957-113833007	SK-N-SH_RA	brain:	n/a
22	chr2:113832957-113833007	GM12878	blood:	n/a
23	chr2:113832957-113833007	HCM	heart:	n/a
24	chr2:113832957-113833007	PrEC	prostate:	n/a
25	chr2:113832957-113833007	AG04449	skin:	fetal
26	chr2:113832957-113833007	HAEpiC	amniotic membrane:	n/a
27	chr2:113832957-113833007	HPAEpiC	pulmonary alveolar:	n/a
28	chr2:113832957-113833007	Jurkat	blood:	n/a
29	chr2:113832957-113833007	HNPCEpiC	eye:	n/a
30	chr2:113832957-113833007	IMR90	lung:	fetal
31	chr2:113832957-113833007	GM19239	blood:	n/a
32	chr2:113832957-113833007	HepG2	liver:	n/a
33	chr2:113832957-113833007	HCT-116	colon:	n/a
34	chr2:113832957-113833007	A549	lung:	n/a
35	chr2:113832957-113833007	HRPEpiC	eye:	n/a
36	chr2:113832957-113833007	AoSMC	blood vessel:	n/a
37	chr2:113832957-113833007	U87	brain:	n/a
38	chr2:113832957-113833007	PANC-1	pancreas:	n/a
39	chr2:113832957-113833007	T-47D	breast:	n/a
40	chr2:113832957-113833007	SK-N-MC	brain:	n/a
41	chr2:113832957-113833007	GM12892	blood:	n/a
42	chr2:113832957-113833007	HEK293	kidney:	embryo
43	chr2:113832957-113833007	K562	blood:	n/a
44	chr2:113832957-113833007	PFSK-1	brain:	n/a
45	chr2:113832957-113833007	BJ	skin:	n/a
46	chr2:113832957-113833007	NHDF-neo	bronchial:	n/a
47	chr2:113832957-113833007	HMEC	breast:	n/a
48	chr2:113832957-113833007	AG04450	lung:	fetal
49	chr2:113832957-113833007	RPTEC	kidney:	n/a
50	chr2:113832957-113833007	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113798210..113800371-chr2:113830392..113832016,2	MCF-7	breast:

No data

Variant related genes	Relation type
IL1F10	CpG island

Extended variants
information (count: 74 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28928295	chr2:113831643-113831644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539508592	chr2:113831647-113831648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183427595	chr2:113831733-113831734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535573992	chr2:113831741-113831742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548784024	chr2:113831748-113831749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528218934	chr2:113831803-113831804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111381344	chr2:113831815-113831816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375132621	chr2:113831889-113831890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201986456	chr2:113831898-113831899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368649703	chr2:113831899-113831900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537829080	chr2:113831913-113831914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72827872	chr2:113831941-113831942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3811058	chr2:113831945-113831946	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs199770962	chr2:113831957-113831958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376639082	chr2:113831958-113831959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143097127	chr2:113831961-113831962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201389496	chr2:113831964-113831965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376658212	chr2:113832034-113832035	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13406688	chr2:113832072-113832073	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs28928296	chr2:113832124-113832125	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs6761821	chr2:113832133-113832134	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556234329	chr2:113832136-113832137	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113038973	chr2:113832138-113832139	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28928297	chr2:113832150-113832151	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115853107	chr2:113832153-113832154	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564908822	chr2:113832155-113832156	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377394428	chr2:113832170-113832171	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533273391	chr2:113832223-113832224	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201050906	chr2:113832306-113832307	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6761276	chr2:113832312-113832313	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
31	rs369147414	chr2:113832328-113832329	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6743376	chr2:113832333-113832334	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
33	rs142851873	chr2:113832336-113832337	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142329174	chr2:113832340-113832341	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147638669	chr2:113832348-113832349	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34320972	chr2:113832364-113832365	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs137898064	chr2:113832365-113832366	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371158051	chr2:113832371-113832372	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373666246	chr2:113832391-113832392	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191149949	chr2:113832423-113832424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531384501	chr2:113832439-113832440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200951358	chr2:113832446-113832447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571121998	chr2:113832454-113832455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367802130	chr2:113832456-113832457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28928298	chr2:113832481-113832482	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554146850	chr2:113832505-113832506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28928299	chr2:113832528-113832529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182666752	chr2:113832534-113832535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556293374	chr2:113832548-113832549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376370944	chr2:113832620-113832621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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	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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113825400-113833000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:113825800-113832800	Enhancers	NHEK	skin
3	chr2:113825800-113839600	Enhancers	HMEC	breast
4	chr2:113826200-113833200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:113827400-113832400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:113827800-113832600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:113829200-113832800	Enhancers	Esophagus	oesophagus
8	chr2:113829800-113832000	Enhancers	Left Ventricle	heart
9	chr2:113830200-113832000	Weak transcription	Placenta	Placenta
10	chr2:113830400-113832000	Enhancers	Fetal Heart	heart
11	chr2:113830800-113831800	Enhancers	Fetal Lung	lung
12	chr2:113830800-113833800	Enhancers	Fetal Muscle Leg	muscle
13	chr2:113831400-113831800	Weak transcription	Gastric	stomach
14	chr2:113831400-113834000	Weak transcription	Stomach Mucosa	stomach
15	chr2:113831600-113831800	Enhancers	Fetal Intestine Small	intestine
16	chr2:113831600-113832600	Enhancers	Lung	lung
17	chr2:113831800-113832400	Weak transcription	Fetal Intestine Small	intestine
18	chr2:113831800-113832600	Enhancers	Gastric	stomach
19	chr2:113831800-113833000	Enhancers	Primary T cells from cord blood	blood
20	chr2:113831800-113833000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr2:113831800-113833200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr2:113832000-113832400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:113832000-113832800	Enhancers	Placenta	Placenta
24	chr2:113832000-113833000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr2:113832000-113833800	Enhancers	Fetal Thymus	thymus
26	chr2:113832200-113832800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:113832200-113833000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:113832200-113833000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:113832400-113833000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr2:113832400-113833200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:113832400-113833200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:113832400-113834600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:113832400-113835600	Enhancers	Fetal Intestine Small	intestine
34	chr2:113832600-113833000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:113832600-113834600	Weak transcription	Gastric	stomach
36	chr2:113832600-113835000	Enhancers	Fetal Intestine Large	intestine
37	chr2:113832600-113835800	Weak transcription	Lung	lung
38	chr2:113832800-113834000	Weak transcription	NHEK	skin
39	chr2:113832800-113835800	Weak transcription	Esophagus	oesophagus

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