Variant report

Variant	nsv521818
Chromosome Location	chr2:179710973-179713601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:179711260-179711367	MCF10A-Er-Src	breast:	n/a	chr2:179711331-179711340 chr2:179711330-179711340 chr2:179711330-179711340 chr2:179711330-179711340 chr2:179711330-179711340
2	FOSL2	chr2:179711046-179711560	SK-N-SH	brain:	n/a	chr2:179711331-179711340 chr2:179711330-179711340 chr2:179711330-179711340 chr2:179711330-179711340 chr2:179711330-179711340
3	GATA3	chr2:179711050-179711704	SK-N-SH	brain:	n/a	chr2:179711332-179711341
4	GATA3	chr2:179710988-179711738	SK-N-SH	brain:	n/a	chr2:179711332-179711341
5	JUND	chr2:179711122-179711574	SK-N-SH	brain:	n/a	chr2:179711331-179711340 chr2:179711330-179711340 chr2:179711330-179711340 chr2:179711330-179711340 chr2:179711330-179711340
6	MAFF	chr2:179711051-179711255	HepG2	liver:	n/a	n/a
7	MAFK	chr2:179711108-179711326	HepG2	liver:	n/a	n/a
8	MAFK	chr2:179711087-179711364	HepG2	liver:	n/a	n/a
9	NFIC	chr2:179711030-179711680	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr2:179710510-179710995	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr2:179710446-179710988	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr2:179711277-179711334	GM12878	blood:	n/a	n/a
13	REST	chr2:179710197-179711277	H1-neurons	neurons:	n/a	n/a
14	SPI1	chr2:179713108-179713346	GM12891	blood:	n/a	chr2:179713263-179713276 chr2:179713266-179713275 chr2:179713264-179713277
15	SPI1	chr2:179713145-179713388	GM12878	blood:	n/a	chr2:179713263-179713276 chr2:179713266-179713275 chr2:179713264-179713277
16	SPI1	chr2:179713157-179713311	GM12878	blood:	n/a	chr2:179713263-179713276 chr2:179713266-179713275 chr2:179713264-179713277
17	SPI1	chr2:179713011-179713511	HL-60	blood:	n/a	chr2:179713263-179713276 chr2:179713266-179713275 chr2:179713264-179713277
18	SPI1	chr2:179713131-179713373	K562	blood:	n/a	chr2:179713263-179713276 chr2:179713266-179713275 chr2:179713264-179713277
19	SPI1	chr2:179713198-179713410	HL-60	blood:	n/a	chr2:179713263-179713276 chr2:179713266-179713275 chr2:179713264-179713277
20	STAT3	chr2:179713191-179713239	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:179711076-179711126	U87	brain:	n/a
2	chr2:179711076-179711126	NB4	blood:	n/a
3	chr2:179711076-179711126	A549	lung:	n/a
4	chr2:179711076-179711126	MCF-7	breast:	n/a
5	chr2:179711076-179711126	RPTEC	kidney:	n/a
6	chr2:179711076-179711126	NT2-D1	testis:	n/a
7	chr2:179711076-179711126	HAEpiC	amniotic membrane:	n/a
8	chr2:179711076-179711126	GM06990	blood:	n/a
9	chr2:179711076-179711126	AG04450	lung:	fetal
10	chr2:179711076-179711126	GM12892	blood:	n/a
11	chr2:179711076-179711126	K562	blood:	n/a
12	chr2:179711076-179711126	SKMC	muscle:	n/a
13	chr2:179711076-179711126	H1-hESC	embryonic stem cell:	embryo
14	chr2:179711076-179711126	HIPEpiC	eye:	n/a
15	chr2:179711076-179711126	HCPEpiC	choroid plexus:	n/a
16	chr2:179711076-179711126	SAEC	small airway:	n/a
17	chr2:179711076-179711126	HCF	heart:	n/a
18	chr2:179711076-179711126	BJ	skin:	n/a
19	chr2:179711076-179711126	HNPCEpiC	eye:	n/a
20	chr2:179711076-179711126	NH-A	brain:	n/a
21	chr2:179711076-179711126	IMR90	lung:	fetal
22	chr2:179711076-179711126	PANC-1	pancreas:	n/a
23	chr2:179711076-179711126	HRCEpiC	kidney:	n/a
24	chr2:179711076-179711126	Caco-2	colon:	n/a
25	chr2:179711076-179711126	HCM	heart:	n/a
26	chr2:179711076-179711126	T-47D	breast:	n/a
27	chr2:179711076-179711126	Jurkat	blood:	n/a
28	chr2:179711076-179711126	ECC-1	luminal epithelium:	n/a
29	chr2:179711076-179711126	HEK293	kidney:	embryo
30	chr2:179711076-179711126	AG04449	skin:	fetal
31	chr2:179711076-179711126	PrEC	prostate:	n/a
32	chr2:179711076-179711126	LNCaP	prostate:	n/a
33	chr2:179711076-179711126	HepG2	liver:	n/a
34	chr2:179711076-179711126	HUVEC	blood vessel:	n/a
35	chr2:179711076-179711126	NHBE	bronchial:	n/a
36	chr2:179711076-179711126	HCT-116	colon:	n/a
37	chr2:179711076-179711126	Hepatocyte	liver:	n/a
38	chr2:179711076-179711126	HEEpiC	esophagus:	n/a
39	chr2:179711076-179711126	AG09309	skin:	n/a
40	chr2:179711076-179711126	AG09319	gingival:	n/a
41	chr2:179711076-179711126	GM12878	blood:	n/a
42	chr2:179711076-179711126	SK-N-MC	brain:	n/a
43	chr2:179711076-179711126	AoSMC	blood vessel:	n/a
44	chr2:179711076-179711126	MCF10A-Er-Src	breast:	n/a
45	chr2:179711076-179711126	PFSK-1	brain:	n/a
46	chr2:179711076-179711126	CMK	blood:	n/a
47	chr2:179711076-179711126	HL-60	blood:	n/a
48	chr2:179711076-179711126	ovcar-3	ovarian:	n/a
49	chr2:179711076-179711126	Hela-S3	cervix:	n/a
50	chr2:179711076-179711126	AG10803	skin:	n/a

Variant related genes	Relation type
CCDC141	TF binding region
CCDC141	CpG island

Extended variants
information (count: 94 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs726215	chr2:179710973-179710974	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186298233	chr2:179710978-179710979	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs189600753	chr2:179710996-179710997	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs527950012	chr2:179711076-179711077	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs541825356	chr2:179711077-179711078	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs35454174	chr2:179711084-179711085	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs570525062	chr2:179711119-179711120	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs373396922	chr2:179711140-179711141	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs540014193	chr2:179711166-179711167	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs180728272	chr2:179711195-179711196	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs568961161	chr2:179711199-179711200	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs542471502	chr2:179711223-179711224	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554224202	chr2:179711225-179711226	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs79889581	chr2:179711234-179711235	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs533814320	chr2:179711255-179711256	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs553636850	chr2:179711258-179711259	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs576656691	chr2:179711260-179711261	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs62175452	chr2:179711277-179711278	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556279307	chr2:179711288-179711289	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs185405369	chr2:179711298-179711299	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs2220127	chr2:179711376-179711377	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546083325	chr2:179711515-179711516	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs561900464	chr2:179711543-179711544	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs116343952	chr2:179711588-179711589	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
25	rs138165810	chr2:179711614-179711615	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs373376786	chr2:179711674-179711675	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs62175453	chr2:179711675-179711676	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533605994	chr2:179711691-179711692	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs540753345	chr2:179711717-179711718	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs142748302	chr2:179711727-179711728	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs114008880	chr2:179711728-179711729	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs6734390	chr2:179711748-179711749	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs16866562	chr2:179711761-179711762	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs144921979	chr2:179711777-179711778	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138756987	chr2:179711786-179711787	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537773235	chr2:179711835-179711836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553698184	chr2:179711940-179711941	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141808890	chr2:179711943-179711944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55968359	chr2:179711949-179711950	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555893602	chr2:179711953-179711954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576497129	chr2:179711984-179711985	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541993396	chr2:179711985-179711986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190954213	chr2:179712003-179712004	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572392733	chr2:179712043-179712044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183529497	chr2:179712084-179712085	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564777229	chr2:179712085-179712086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533618246	chr2:179712114-179712115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544054415	chr2:179712130-179712131	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563698405	chr2:179712185-179712186	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529477264	chr2:179712236-179712237	Weak transcription Strong transcription	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179693400-179712600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:179693400-179726000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:179694200-179713400	Weak transcription	Spleen	Spleen
4	chr2:179695600-179712600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:179695600-179712600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:179695600-179713000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:179695800-179711000	Weak transcription	Right Ventricle	heart
8	chr2:179695800-179738400	Weak transcription	Fetal Intestine Large	intestine
9	chr2:179696400-179728800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:179701800-179712000	Weak transcription	Primary B cells from cord blood	blood
11	chr2:179701800-179712200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:179702200-179713200	Weak transcription	Fetal Thymus	thymus
13	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
14	chr2:179702400-179729200	Weak transcription	Lung	lung
15	chr2:179702400-179730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:179702800-179728600	Weak transcription	Pancreas	Pancrea
17	chr2:179703400-179712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:179704400-179720800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:179707200-179721000	Strong transcription	Primary T cells from cord blood	blood
20	chr2:179707800-179711200	Enhancers	Brain Germinal Matrix	brain
21	chr2:179708000-179711600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:179708000-179727800	Weak transcription	Psoas Muscle	Psoas
23	chr2:179708200-179712000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:179708600-179711800	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:179708800-179711200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:179709000-179711200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:179709000-179711400	Enhancers	Colon Smooth Muscle	Colon
28	chr2:179709000-179711400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:179709000-179711400	Enhancers	Fetal Muscle Leg	muscle
30	chr2:179709000-179711600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:179709000-179712000	Enhancers	HSMMtube	muscle
32	chr2:179709200-179711000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:179709200-179711000	Enhancers	Fetal Brain Female	brain
34	chr2:179709200-179711200	Enhancers	Brain Hippocampus Middle	brain
35	chr2:179709200-179711400	Enhancers	Fetal Brain Male	brain
36	chr2:179709200-179711600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:179709200-179711600	Enhancers	Rectal Smooth Muscle	rectum
38	chr2:179709200-179711600	Enhancers	HSMM	muscle
39	chr2:179709200-179711600	Enhancers	NHDF-Ad	bronchial
40	chr2:179709200-179711600	Enhancers	Osteobl	bone
41	chr2:179709400-179711000	Weak transcription	Left Ventricle	heart
42	chr2:179709400-179711200	Enhancers	NHLF	lung
43	chr2:179709400-179714800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:179709800-179711600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:179710000-179711200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:179710000-179711400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr2:179710000-179711400	Enhancers	NH-A	brain
48	chr2:179710000-179711600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:179710000-179714200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:179710200-179711200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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