Variant report

Variant	nsv962090
Chromosome Location	chr2:186655275-186659525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:186658194-186658896	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr2:186658200-186658570	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr2:186658233-186659063	SK-N-SH	brain:	n/a	n/a
4	FOSL2	chr2:186658260-186658920	SK-N-SH	brain:	n/a	n/a
5	FOXA1	chr2:186655628-186655851	T-47D	breast:	n/a	n/a
6	GATA3	chr2:186655433-186655867	MCF-7	breast:	n/a	n/a
7	GATA3	chr2:186655508-186655796	MCF-7	breast:	n/a	n/a
8	GATA3	chr2:186655325-186655851	MCF-7	breast:	n/a	n/a
9	GATA3	chr2:186658135-186659156	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr2:186657541-186659319	SK-N-SH	brain:	n/a	n/a
11	JUN	chr2:186658845-186659014	HepG2	liver:	n/a	n/a
12	JUND	chr2:186658175-186659010	SK-N-SH	brain:	n/a	n/a
13	JUND	chr2:186658195-186658958	SK-N-SH	brain:	n/a	n/a
14	MEF2A	chr2:186658200-186658936	SK-N-SH	brain:	n/a	n/a
15	MEF2A	chr2:186658087-186658974	SK-N-SH	brain:	n/a	n/a
16	NFIC	chr2:186658193-186658921	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr2:186658090-186659178	SK-N-SH	brain:	n/a	n/a
18	PBX3	chr2:186658199-186659000	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr2:186658265-186658804	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr2:186657400-186657483	MCF10A-Er-Src	breast:	n/a	n/a
21	SPI1	chr2:186655111-186655422	GM12891	blood:	n/a	n/a
22	SPI1	chr2:186655139-186655366	GM12891	blood:	n/a	n/a
23	TCF12	chr2:186658145-186658997	SK-N-SH	brain:	n/a	n/a
24	TCF12	chr2:186658135-186658975	SK-N-SH	brain:	n/a	n/a
25	TEAD4	chr2:186658175-186658902	SK-N-SH	brain:	n/a	n/a
26	TEAD4	chr2:186658241-186658813	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:186657715..186659336-chr2:186665984..186667594,2	K562	blood:
2	chr2:186650871..186652540-chr2:186657235..186659322,2	K562	blood:

No data

Variant related genes	Relation type
FSIP2	TF binding region

Extended variants
information (count: 122 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192534226	chr2:186655324-186655325	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs570815456	chr2:186655331-186655332	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs371053150	chr2:186655430-186655431	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs367945350	chr2:186655468-186655469	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs535287598	chr2:186655505-186655506	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs548470842	chr2:186655574-186655575	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs145693394	chr2:186655575-186655576	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs568633111	chr2:186655576-186655577	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562183083	chr2:186655587-186655588	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs113665835	chr2:186655638-186655639	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200959994	chr2:186655657-186655658	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs554688242	chr2:186655679-186655680	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs576170834	chr2:186655714-186655715	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs10931199	chr2:186655726-186655727	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558541613	chr2:186655805-186655806	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs183061162	chr2:186655829-186655830	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs114059375	chr2:186655900-186655901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541314773	chr2:186655901-186655902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188198203	chr2:186656005-186656006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559312963	chr2:186656013-186656014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368938664	chr2:186656074-186656075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200092968	chr2:186656130-186656131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192957612	chr2:186656179-186656180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563465378	chr2:186656237-186656238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530869525	chr2:186656241-186656242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202032936	chr2:186656322-186656323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200352552	chr2:186656460-186656461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564133320	chr2:186656475-186656476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531097220	chr2:186656582-186656583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10173807	chr2:186656657-186656658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185270999	chr2:186656708-186656709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568593132	chr2:186656735-186656736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529504299	chr2:186656812-186656813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17815052	chr2:186656840-186656841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs569770014	chr2:186656853-186656854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537101903	chr2:186656871-186656872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558626267	chr2:186656879-186656880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80073781	chr2:186656889-186656890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534645968	chr2:186656894-186656895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375336474	chr2:186656899-186656900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189613387	chr2:186656923-186656924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574618827	chr2:186656939-186656940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17229201	chr2:186656956-186656957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs192541034	chr2:186657013-186657014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575376407	chr2:186657034-186657035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545893401	chr2:186657051-186657052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568599074	chr2:186657065-186657066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17229222	chr2:186657089-186657090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs527302772	chr2:186657098-186657099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184725663	chr2:186657111-186657112	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186648200-186670400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:186648800-186658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:186652000-186661400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:186652600-186657800	Weak transcription	NHDF-Ad	bronchial
5	chr2:186654800-186655600	Enhancers	GM12878-XiMat	blood
6	chr2:186657800-186658000	Enhancers	NHDF-Ad	bronchial
7	chr2:186658000-186658800	Weak transcription	NHDF-Ad	bronchial
8	chr2:186658800-186659000	Enhancers	NHDF-Ad	bronchial

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