Variant report

Variant	nsv10202
Chromosome Location	chr2:179516350-179528978
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:179528004-179528021	GM13976	blood:	n/a	n/a
2	CTCF	chr2:179516569-179516644	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr2:179526675-179526747	LNCaP	prostate:	n/a	n/a
4	POLR2A	chr2:179521638-179521741	ProgFib	skin:	n/a	n/a
5	RAD21	chr2:179516602-179516665	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:179516579-179516629	NH-A	brain:	n/a
2	chr2:179516579-179516629	H1-hESC	embryonic stem cell:	embryo
3	chr2:179516579-179516629	K562	blood:	n/a
4	chr2:179516579-179516629	RPTEC	kidney:	n/a
5	chr2:179516579-179516629	GM12878	blood:	n/a
6	chr2:179516579-179516629	BE2_C	brain:	n/a
7	chr2:179516579-179516629	GM12892	blood:	n/a
8	chr2:179516579-179516629	HL-60	blood:	n/a
9	chr2:179516579-179516629	NB4	blood:	n/a
10	chr2:179516579-179516629	MCF-7	breast:	n/a
11	chr2:179516579-179516629	AG09309	skin:	n/a
12	chr2:179516579-179516629	LNCaP	prostate:	n/a
13	chr2:179516579-179516629	HEK293	kidney:	embryo
14	chr2:179516579-179516629	HAEpiC	amniotic membrane:	n/a
15	chr2:179516579-179516629	GM19239	blood:	n/a
16	chr2:179516579-179516629	HNPCEpiC	eye:	n/a
17	chr2:179516579-179516629	ECC-1	luminal epithelium:	n/a
18	chr2:179516579-179516629	Hela-S3	cervix:	n/a
19	chr2:179516579-179516629	NT2-D1	testis:	n/a
20	chr2:179516579-179516629	NHBE	bronchial:	n/a
21	chr2:179516579-179516629	Caco-2	colon:	n/a
22	chr2:179516579-179516629	AoSMC	blood vessel:	n/a
23	chr2:179516579-179516629	HCF	heart:	n/a
24	chr2:179516579-179516629	ProgFib	skin:	n/a
25	chr2:179516579-179516629	SK-N-SH_RA	brain:	n/a
26	chr2:179516579-179516629	HRE	kidney:	n/a
27	chr2:179516579-179516629	HRPEpiC	eye:	n/a
28	chr2:179516579-179516629	NHDF-neo	bronchial:	n/a
29	chr2:179516579-179516629	AG09319	gingival:	n/a
30	chr2:179516579-179516629	HepG2	liver:	n/a
31	chr2:179516579-179516629	PrEC	prostate:	n/a
32	chr2:179516579-179516629	HCT-116	colon:	n/a
33	chr2:179516579-179516629	PFSK-1	brain:	n/a
34	chr2:179516579-179516629	PANC-1	pancreas:	n/a
35	chr2:179516579-179516629	SKMC	muscle:	n/a
36	chr2:179516579-179516629	AG04449	skin:	fetal
37	chr2:179516579-179516629	U87	brain:	n/a
38	chr2:179516579-179516629	Jurkat	blood:	n/a
39	chr2:179516579-179516629	SK-N-MC	brain:	n/a
40	chr2:179516579-179516629	HEEpiC	esophagus:	n/a
41	chr2:179516579-179516629	IMR90	lung:	fetal
42	chr2:179516579-179516629	T-47D	breast:	n/a
43	chr2:179516579-179516629	HCM	heart:	n/a
44	chr2:179516579-179516629	SK-N-SH	brain:	n/a
45	chr2:179516579-179516629	HCPEpiC	choroid plexus:	n/a
46	chr2:179516579-179516629	HRCEpiC	kidney:	n/a
47	chr2:179516579-179516629	MCF10A-Er-Src	breast:	n/a
48	chr2:179516579-179516629	AG04450	lung:	fetal
49	chr2:179516579-179516629	HMEC	breast:	n/a
50	chr2:179516579-179516629	ovcar-3	ovarian:	n/a

No data

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

Extended variants
information (count: 265 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376286053	chr2:179516352-179516353	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530570377	chr2:179516357-179516358	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369987936	chr2:179516364-179516365	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550378650	chr2:179516375-179516376	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373482203	chr2:179516384-179516385	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377259883	chr2:179516399-179516400	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370770257	chr2:179516402-179516403	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374394719	chr2:179516426-179516427	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375956503	chr2:179516429-179516430	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs397517556	chr2:179516437-179516438	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370520319	chr2:179516467-179516468	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374197702	chr2:179516495-179516496	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530166666	chr2:179516578-179516579	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs72650063	chr2:179516580-179516581	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371373940	chr2:179516583-179516584	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs566794300	chr2:179516615-179516616	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs539338428	chr2:179516687-179516688	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201035457	chr2:179516689-179516690	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569579388	chr2:179516690-179516691	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368641171	chr2:179516698-179516699	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372380420	chr2:179516707-179516708	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538640121	chr2:179516742-179516743	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367940697	chr2:179516744-179516745	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572407357	chr2:179516770-179516771	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371747911	chr2:179516807-179516808	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375770526	chr2:179516811-179516812	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370157162	chr2:179516829-179516830	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369002632	chr2:179516842-179516843	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373791597	chr2:179516843-179516844	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573657954	chr2:179516863-179516864	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375386450	chr2:179516864-179516865	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72650062	chr2:179516868-179516869	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398124449	chr2:179516888-179516889	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373056460	chr2:179516915-179516916	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376260242	chr2:179516921-179516922	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187365142	chr2:179516985-179516986	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372882834	chr2:179517000-179517001	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12474306	chr2:179517019-179517020	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs397517555	chr2:179517039-179517040	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72650061	chr2:179517050-179517051	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552922153	chr2:179517054-179517055	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200916144	chr2:179517088-179517089	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544606300	chr2:179517105-179517106	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72650060	chr2:179517116-179517117	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183059602	chr2:179517159-179517160	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187786192	chr2:179517163-179517164	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397517554	chr2:179517175-179517176	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560962534	chr2:179517185-179517186	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371380876	chr2:179517208-179517209	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375519815	chr2:179517222-179517223	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179438400-179518200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:179479600-179519400	Weak transcription	Fetal Thymus	thymus
3	chr2:179481400-179520000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
5	chr2:179493000-179620800	Weak transcription	HSMM	muscle
6	chr2:179496000-179521600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:179497800-179516400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:179497800-179518400	Weak transcription	Pancreas	Pancrea
9	chr2:179497800-179530400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:179498000-179521000	Weak transcription	Right Ventricle	heart
11	chr2:179501000-179541800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:179508200-179519000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:179509000-179518200	Strong transcription	HSMMtube	muscle
14	chr2:179509200-179518000	Strong transcription	Primary T cells from cord blood	blood
15	chr2:179511800-179518400	Strong transcription	Left Ventricle	heart
16	chr2:179513600-179516800	Strong transcription	Primary B cells from cord blood	blood
17	chr2:179513600-179518000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:179514200-179517800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:179514400-179518000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:179514400-179528400	Weak transcription	Fetal Heart	heart
21	chr2:179515200-179518000	Strong transcription	Fetal Muscle Leg	muscle
22	chr2:179515600-179518400	Weak transcription	Thymus	Thymus
23	chr2:179516000-179516800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:179516000-179516800	Enhancers	Placenta	Placenta
25	chr2:179516000-179518000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:179516000-179518000	Strong transcription	Psoas Muscle	Psoas
27	chr2:179516000-179518200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr2:179516200-179518000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:179516200-179518200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:179516400-179516600	Enhancers	Primary hematopoietic stem cells	blood
31	chr2:179516600-179516800	Enhancers	GM12878-XiMat	blood
32	chr2:179516800-179518600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:179516800-179528400	Weak transcription	Primary B cells from cord blood	blood
34	chr2:179517800-179528400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:179518000-179528200	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:179518000-179528200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:179518000-179528400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:179518000-179529000	Weak transcription	Psoas Muscle	Psoas
39	chr2:179518000-179533400	Weak transcription	Primary T cells from cord blood	blood
40	chr2:179518000-179536000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:179518000-179540200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:179518200-179528200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:179518200-179528200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:179518200-179528200	Weak transcription	HSMMtube	muscle
45	chr2:179518200-179528600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:179518400-179528400	Weak transcription	Left Ventricle	heart
47	chr2:179519000-179528400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:179527000-179529200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:179528200-179528400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:179528200-179528600	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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