Variant report

Variant	nsv979350
Chromosome Location	chr2:186647975-186654591
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	BATF	chr2:186650918-186651197	GM12878	blood:	n/a	chr2:186651050-186651061
2	BATF	chr2:186650911-186651150	GM12878	blood:	n/a	chr2:186651050-186651061
3	CHD1	chr2:186651270-186651353	GM12878	blood:	n/a	n/a
4	CHD2	chr2:186651414-186651424	GM12878	blood:	n/a	n/a
5	CUX1	chr2:186650793-186651412	GM12878	blood:	n/a	chr2:186651337-186651346
6	E2F4	chr2:186652308-186652616	MCF10A-Er-Src	breast:	n/a	chr2:186652475-186652484
7	EBF1	chr2:186650586-186651490	GM12878	blood:	n/a	n/a
8	EP300	chr2:186652104-186652669	SK-N-SH	brain:	n/a	n/a
9	EP300	chr2:186649764-186650281	SK-N-SH_RA	brain:	n/a	chr2:186650080-186650094
10	EP300	chr2:186652322-186652614	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr2:186650754-186651089	GM12878	blood:	n/a	chr2:186650808-186650822 chr2:186650809-186650818
12	EP300	chr2:186649832-186650284	SK-N-SH_RA	brain:	n/a	chr2:186650080-186650094
13	EP300	chr2:186652357-186652627	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr2:186650813-186651136	GM12878	blood:	n/a	n/a
15	EP300	chr2:186650543-186651455	GM12878	blood:	n/a	chr2:186651317-186651325 chr2:186650808-186650822 chr2:186650809-186650818
16	FOS	chr2:186650868-186651181	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr2:186650897-186651221	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr2:186652201-186652662	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr2:186652035-186652660	HUVEC	blood vessel:	n/a	chr2:186652096-186652104 chr2:186652094-186652106
20	FOS	chr2:186650949-186651185	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr2:186651923-186652642	MCF10A-Er-Src	breast:	n/a	chr2:186652096-186652104 chr2:186652094-186652106
22	FOS	chr2:186652267-186652846	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr2:186650845-186651250	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr2:186652235-186652640	MCF10A-Er-Src	breast:	n/a	n/a
25	FOSL1	chr2:186652226-186652619	HCT-116	colon:	n/a	n/a
26	FOSL1	chr2:186652169-186652731	HCT-116	colon:	n/a	n/a
27	FOSL2	chr2:186650848-186651290	SK-N-SH	brain:	n/a	n/a
28	FOSL2	chr2:186652172-186652591	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr2:186652154-186652826	SK-N-SH	brain:	n/a	n/a
30	GATA3	chr2:186652152-186652741	SK-N-SH	brain:	n/a	n/a
31	JUND	chr2:186652184-186652683	SK-N-SH	brain:	n/a	n/a
32	MAFK	chr2:186649525-186649759	HepG2	liver:	n/a	n/a
33	NFIC	chr2:186650631-186651257	GM12878	blood:	n/a	n/a
34	NFIC	chr2:186652327-186652599	SK-N-SH	brain:	n/a	chr2:186652488-186652504
35	NFIC	chr2:186650583-186651290	GM12878	blood:	n/a	n/a
36	NFIC	chr2:186652120-186652849	SK-N-SH	brain:	n/a	chr2:186652488-186652504
37	PBX3	chr2:186652173-186652639	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr2:186652060-186652237	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr2:186650130-186650255	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr2:186648683-186648715	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr2:186652303-186652571	SK-N-SH	brain:	n/a	n/a
42	RCOR1	chr2:186650840-186651391	GM12878	blood:	n/a	n/a
43	RUNX3	chr2:186650589-186651415	GM12878	blood:	n/a	n/a
44	SPI1	chr2:186650404-186651277	GM12878	blood:	n/a	chr2:186650813-186650822 chr2:186650807-186650820
45	SPI1	chr2:186650697-186650910	GM12878	blood:	n/a	chr2:186650813-186650822 chr2:186650807-186650820
46	SPI1	chr2:186650601-186650885	GM12878	blood:	n/a	chr2:186650813-186650822 chr2:186650807-186650820
47	SPI1	chr2:186650608-186650929	GM12891	blood:	n/a	chr2:186650813-186650822 chr2:186650807-186650820
48	SPI1	chr2:186650563-186650894	GM12891	blood:	n/a	chr2:186650813-186650822 chr2:186650807-186650820
49	STAT3	chr2:186650976-186651015	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr2:186650942-186651127	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:186650871..186652540-chr2:186657235..186659322,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-5	chr2:186653493-186653670	ENSG00000231646.1
2	lnc-ZSWIM2-5	chr2:186653493-186653670	ENSG00000231646.1
3	lnc-ZSWIM2-5	chr2:186648418-186648857	ENSG00000231646.1
4	lnc-ZSWIM2-5	chr2:186652747-186652936	ENSG00000231646.1

Variant related genes	Relation type
FSIP2	TF binding region

Extended variants
information (count: 223 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572415986	chr2:186647982-186647983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368445672	chr2:186647985-186647986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78585053	chr2:186648013-186648014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563559257	chr2:186648015-186648016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546388481	chr2:186648069-186648070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576903685	chr2:186648075-186648076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541373156	chr2:186648129-186648130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376779396	chr2:186648154-186648155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185810431	chr2:186648158-186648159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371054120	chr2:186648188-186648189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571062493	chr2:186648199-186648200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541663438	chr2:186648244-186648245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147382646	chr2:186648306-186648307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148438123	chr2:186648342-186648343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552251499	chr2:186648384-186648385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564169984	chr2:186648424-186648425	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs528450159	chr2:186648462-186648463	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs532345920	chr2:186648468-186648469	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs114438088	chr2:186648469-186648470	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs563708792	chr2:186648519-186648520	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs150521841	chr2:186648552-186648553	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs541021776	chr2:186648557-186648558	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs536097106	chr2:186648576-186648577	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs550903719	chr2:186648640-186648641	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs76503298	chr2:186648669-186648670	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs139601771	chr2:186648743-186648744	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs558662977	chr2:186648794-186648795	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs190221619	chr2:186648796-186648797	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs534625065	chr2:186648835-186648836	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs183814791	chr2:186648852-186648853	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs188406147	chr2:186648895-186648896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191631911	chr2:186648918-186648919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11883784	chr2:186648974-186648975	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs545926087	chr2:186648975-186648976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80137114	chr2:186648984-186648985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564254321	chr2:186649025-186649026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149746522	chr2:186649091-186649092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183978466	chr2:186649117-186649118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187620892	chr2:186649121-186649122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546097499	chr2:186649126-186649127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561060188	chr2:186649175-186649176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146717446	chr2:186649207-186649208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551251855	chr2:186649245-186649246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569378059	chr2:186649270-186649271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191428319	chr2:186649271-186649272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551976776	chr2:186649333-186649334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570565231	chr2:186649343-186649344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183567214	chr2:186649568-186649569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35677317	chr2:186649594-186649595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530165223	chr2:186649666-186649667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186647800-186648600	Weak transcription	Fetal Intestine Large	intestine
2	chr2:186648000-186648200	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr2:186648200-186670400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:186648600-186648800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr2:186648600-186649400	Enhancers	Fetal Intestine Large	intestine
6	chr2:186648800-186658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:186650400-186651600	Enhancers	GM12878-XiMat	blood
8	chr2:186650400-186653400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:186650600-186652400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:186651200-186651600	Enhancers	NHDF-Ad	bronchial
11	chr2:186651600-186652400	Weak transcription	NHDF-Ad	bronchial
12	chr2:186651600-186654800	Weak transcription	GM12878-XiMat	blood
13	chr2:186652000-186652600	Enhancers	NH-A	brain
14	chr2:186652000-186653000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:186652000-186661400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:186652200-186652600	Enhancers	HUVEC	blood vessel
17	chr2:186652400-186652600	Enhancers	NHDF-Ad	bronchial
18	chr2:186652600-186657800	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links