Variant report

Variant	nsv962089
Chromosome Location	chr2:179635536-179643793
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
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	CEBPB	chr2:179643450-179643568	HepG2	liver:	n/a	n/a
2	CTCF	chr2:179640280-179640430	GM12865	blood:	n/a	n/a
3	ELF1	chr2:179640102-179640476	K562	blood:	n/a	chr2:179640292-179640305
4	FOS	chr2:179642522-179642554	MCF10A-Er-Src	breast:	n/a	n/a
5	FOSL2	chr2:179642351-179642687	MCF-7	breast:	n/a	n/a
6	GATA3	chr2:179642168-179642760	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr2:179642206-179642720	MCF-7	breast:	n/a	n/a
8	GATA3	chr2:179642110-179642732	SK-N-SH	brain:	n/a	n/a
9	JUN	chr2:179635277-179635609	HepG2	liver:	n/a	chr2:179635439-179635448 chr2:179635438-179635451
10	JUND	chr2:179635259-179635627	HepG2	liver:	n/a	chr2:179635439-179635448
11	MAFF	chr2:179636512-179637062	HepG2	liver:	n/a	chr2:179636935-179636953
12	MAFK	chr2:179636946-179637000	IMR90	lung:	n/a	n/a
13	MAFK	chr2:179636536-179637201	HepG2	liver:	n/a	chr2:179636938-179636958 chr2:179636936-179636950 chr2:179637152-179637166 chr2:179636938-179636949 chr2:179636938-179636949
14	MAFK	chr2:179636492-179637115	HepG2	liver:	n/a	chr2:179636938-179636958 chr2:179636936-179636950 chr2:179636938-179636949 chr2:179636938-179636949
15	POLR2A	chr2:179635762-179635812	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr2:179638567-179638574	MCF10A-Er-Src	breast:	n/a	n/a
17	USF2	chr2:179638290-179638292	GM12878	blood:	n/a	n/a
18	ZNF274	chr2:179636007-179636301	NT2-D1	testis:	n/a	n/a
19	ZNF384	chr2:179639701-179639706	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:179641336-179641386	HAEpiC	amniotic membrane:	n/a
2	chr2:179640548-179640598	LNCaP	prostate:	n/a
3	chr2:179641336-179641386	IMR90	lung:	fetal
4	chr2:179641336-179641386	NHDF-neo	bronchial:	n/a
5	chr2:179640548-179640598	HCM	heart:	n/a
6	chr2:179640548-179640598	HUVEC	blood vessel:	n/a
7	chr2:179640548-179640598	BJ	skin:	n/a
8	chr2:179640548-179640598	SAEC	small airway:	n/a
9	chr2:179641336-179641386	U87	brain:	n/a
10	chr2:179640548-179640598	SK-N-SH	brain:	n/a
11	chr2:179641336-179641386	HIPEpiC	eye:	n/a
12	chr2:179640548-179640598	NT2-D1	testis:	n/a
13	chr2:179640548-179640598	HCPEpiC	choroid plexus:	n/a
14	chr2:179641543-179641593	SKMC	muscle:	n/a
15	chr2:179640548-179640598	AG10803	skin:	n/a
16	chr2:179641543-179641593	AG09319	gingival:	n/a
17	chr2:179641336-179641386	Hela-S3	cervix:	n/a
18	chr2:179641543-179641593	HL-60	blood:	n/a
19	chr2:179641336-179641386	SK-N-MC	brain:	n/a
20	chr2:179641336-179641386	SK-N-SH	brain:	n/a
21	chr2:179641336-179641386	SAEC	small airway:	n/a
22	chr2:179641543-179641593	GM06990	blood:	n/a
23	chr2:179641543-179641593	MCF10A-Er-Src	breast:	n/a
24	chr2:179641336-179641386	CMK	blood:	n/a
25	chr2:179641336-179641386	NH-A	brain:	n/a
26	chr2:179641543-179641593	IMR90	lung:	fetal
27	chr2:179641336-179641386	HCPEpiC	choroid plexus:	n/a
28	chr2:179640548-179640598	NB4	blood:	n/a
29	chr2:179641336-179641386	AG09309	skin:	n/a
30	chr2:179641336-179641386	HRCEpiC	kidney:	n/a
31	chr2:179641543-179641593	BE2_C	brain:	n/a
32	chr2:179641336-179641386	PrEC	prostate:	n/a
33	chr2:179641543-179641593	HCF	heart:	n/a
34	chr2:179641543-179641593	Hepatocyte	liver:	n/a
35	chr2:179641336-179641386	RPTEC	kidney:	n/a
36	chr2:179641543-179641593	HMEC	breast:	n/a
37	chr2:179641543-179641593	HRE	kidney:	n/a
38	chr2:179641336-179641386	HL-60	blood:	n/a
39	chr2:179640548-179640598	HPAEpiC	pulmonary alveolar:	n/a
40	chr2:179641543-179641593	HCT-116	colon:	n/a
41	chr2:179641336-179641386	NHBE	bronchial:	n/a
42	chr2:179640548-179640598	HL-60	blood:	n/a
43	chr2:179641543-179641593	K562	blood:	n/a
44	chr2:179641336-179641386	Hepatocyte	liver:	n/a
45	chr2:179640548-179640598	RPTEC	kidney:	n/a
46	chr2:179640548-179640598	HMEC	breast:	n/a
47	chr2:179640548-179640598	HEK293	kidney:	embryo
48	chr2:179640548-179640598	SK-N-MC	brain:	n/a
49	chr2:179640548-179640598	GM12891	blood:	n/a
50	chr2:179641336-179641386	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179641847..179643988-chr2:179646458..179648017,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266413	TF binding region
TTN-AS1	TF binding region
ENSG00000266413	CpG island
TTN-AS1	CpG island

Extended variants
information (count: 407 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200126481	chr2:179635541-179635542	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs189989293	chr2:179635575-179635576	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs527885342	chr2:179635581-179635582	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs182624925	chr2:179635582-179635583	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs559802534	chr2:179635593-179635594	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs74504943	chr2:179635605-179635606	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs551727345	chr2:179635686-179635687	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568815022	chr2:179635708-179635709	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575688619	chr2:179635744-179635745	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4893854	chr2:179635789-179635790	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548457217	chr2:179635827-179635828	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2291304	chr2:179635850-179635851	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs72647882	chr2:179635866-179635867	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4894047	chr2:179635882-179635883	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570924209	chr2:179635888-179635889	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371265732	chr2:179635903-179635904	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199849598	chr2:179635904-179635905	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13011633	chr2:179635919-179635920	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556548772	chr2:179635952-179635953	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373857878	chr2:179635959-179635960	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374620001	chr2:179635985-179635986	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375223745	chr2:179636031-179636032	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs542196734	chr2:179636033-179636034	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs369439944	chr2:179636041-179636042	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs372885019	chr2:179636067-179636068	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs147207100	chr2:179636093-179636094	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs201837864	chr2:179636097-179636098	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs572589233	chr2:179636120-179636121	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs372714235	chr2:179636155-179636156	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs144247127	chr2:179636164-179636165	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs73973146	chr2:179636173-179636174	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs148394362	chr2:179636190-179636191	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs532032728	chr2:179636212-179636213	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs371181677	chr2:179636237-179636238	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2291305	chr2:179636257-179636258	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs74655004	chr2:179636273-179636274	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs574113694	chr2:179636369-179636370	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371626160	chr2:179636381-179636382	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558455214	chr2:179636415-179636416	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560191745	chr2:179636435-179636436	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575465276	chr2:179636498-179636499	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs548214280	chr2:179636500-179636501	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs568329314	chr2:179636501-179636502	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs527510233	chr2:179636529-179636530	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs13017833	chr2:179636584-179636585	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372062239	chr2:179636589-179636590	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs570959006	chr2:179636602-179636603	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs186603730	chr2:179636608-179636609	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs192794703	chr2:179636638-179636639	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs569980177	chr2:179636659-179636660	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:179577800-179640800	Weak transcription	Fetal Intestine Large	intestine
4	chr2:179590800-179640400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:179605400-179662400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:179610800-179671400	Weak transcription	Ovary	ovary
7	chr2:179614200-179645200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:179619000-179636000	Strong transcription	Left Ventricle	heart
9	chr2:179622600-179640600	Weak transcription	Pancreas	Pancrea
10	chr2:179627000-179655200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:179627400-179636000	Weak transcription	Lung	lung
12	chr2:179627400-179653200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:179627600-179639200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:179627600-179652600	Weak transcription	Brain Substantia Nigra	brain
15	chr2:179627600-179663800	Weak transcription	Thymus	Thymus
16	chr2:179628000-179636400	Strong transcription	Primary T cells from cord blood	blood
17	chr2:179628000-179638600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:179629000-179636200	Genic enhancers	Fetal Heart	heart
19	chr2:179629600-179666200	Weak transcription	GM12878-XiMat	blood
20	chr2:179630600-179651000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:179630800-179640800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:179631200-179649800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:179631400-179636600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:179631600-179635600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr2:179632000-179635600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:179632000-179658800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:179632400-179636200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:179632400-179667800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:179632800-179636400	Strong transcription	HSMMtube	muscle
30	chr2:179632800-179641000	Weak transcription	Fetal Thymus	thymus
31	chr2:179633000-179636200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:179633000-179638400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr2:179633400-179636200	Strong transcription	Right Ventricle	heart
34	chr2:179634000-179636200	Genic enhancers	Fetal Muscle Leg	muscle
35	chr2:179634200-179648600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:179634400-179636200	Strong transcription	Brain Anterior Caudate	brain
37	chr2:179634400-179645200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:179634600-179635800	Strong transcription	Primary B cells from cord blood	blood
39	chr2:179634800-179635800	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr2:179634800-179636200	Strong transcription	HSMM	muscle
41	chr2:179635000-179636200	Strong transcription	Psoas Muscle	Psoas
42	chr2:179635200-179640800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:179635600-179640800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:179635600-179640800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:179635800-179637400	Weak transcription	Primary B cells from cord blood	blood
46	chr2:179635800-179640800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:179636000-179636200	Genic enhancers	Left Ventricle	heart
48	chr2:179636000-179636200	ZNF genes & repeats	Lung	lung
49	chr2:179636200-179637200	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:179636200-179637400	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links