Variant report

Variant	nsv875544
Chromosome Location	chr2:186396639-186458903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:183)
CpG islands
(count:244)
Chromatin interactive
region (count:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:186404043-186404204	GM12878	blood:	n/a	chr2:186404092-186404101
2	CBX3	chr2:186447908-186448538	HCT-116	colon:	n/a	n/a
3	CBX3	chr2:186447981-186448661	HCT-116	colon:	n/a	n/a
4	CCNT2	chr2:186421366-186421432	K562	blood:	n/a	n/a
5	CEBPB	chr2:186448052-186448719	HCT-116	colon:	n/a	n/a
6	CEBPB	chr2:186412355-186412597	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:186448257-186448571	A549	lung:	n/a	n/a
8	CEBPB	chr2:186448144-186448607	MCF-7	breast:	n/a	n/a
9	CEBPB	chr2:186414148-186414425	HepG2	liver:	n/a	chr2:186414287-186414298
10	CEBPB	chr2:186425216-186425355	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr2:186414221-186414307	H1-hESC	embryonic stem cell:	n/a	chr2:186414287-186414298
12	CEBPB	chr2:186448257-186448516	HepG2	liver:	n/a	n/a
13	CEBPB	chr2:186448129-186448586	A549	lung:	n/a	n/a
14	CEBPB	chr2:186414165-186414407	IMR90	lung:	n/a	chr2:186414287-186414298
15	CEBPB	chr2:186447957-186448588	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr2:186448119-186448613	MCF-7	breast:	n/a	n/a
17	CEBPB	chr2:186448143-186448675	HCT-116	colon:	n/a	n/a
18	CHD1	chr2:186432962-186433012	GM12878	blood:	n/a	n/a
19	CHD2	chr2:186448192-186448572	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr2:186448019-186448097	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr2:186416060-186416210	HepG2	liver:	n/a	n/a
22	CTCF	chr2:186447880-186448030	SAEC	small airway:	n/a	n/a
23	CTCF	chr2:186411871-186411904	Medullo	brain:	n/a	n/a
24	CTCF	chr2:186448020-186448170	RPTEC	kidney:	n/a	n/a
25	CTCF	chr2:186447820-186447970	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr2:186455420-186455486	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr2:186448018-186448039	NHEK	skin:	n/a	n/a
28	CTCF	chr2:186411005-186411020	GM10248	blood:	n/a	n/a
29	E2F4	chr2:186431669-186431821	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr2:186446861-186447461	MCF10A-Er-Src	breast:	n/a	chr2:186446926-186446935
31	E2F4	chr2:186434694-186435128	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr2:186416158-186416358	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F6	chr2:186432736-186433038	H1-hESC	embryonic stem cell:	n/a	n/a
34	E2F6	chr2:186432509-186433177	H1-hESC	embryonic stem cell:	n/a	n/a
35	ELF1	chr2:186448020-186448557	MCF-7	breast:	n/a	n/a
36	EP300	chr2:186448174-186448501	Hela-S3	cervix:	n/a	n/a
37	EP300	chr2:186448174-186448543	MCF-7	breast:	n/a	n/a
38	FAM48A	chr2:186440078-186440117	GM12878	blood:	n/a	n/a
39	FOS	chr2:186431960-186432141	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr2:186449975-186450201	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr2:186443890-186443956	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr2:186448135-186448577	MCF10A-Er-Src	breast:	n/a	chr2:186448323-186448334
43	FOS	chr2:186448024-186448601	MCF10A-Er-Src	breast:	n/a	chr2:186448323-186448334
44	FOS	chr2:186431972-186432193	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr2:186449947-186450263	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr2:186448184-186448534	Hela-S3	cervix:	n/a	chr2:186448323-186448334
47	FOS	chr2:186448849-186448854	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr2:186447945-186448577	MCF10A-Er-Src	breast:	n/a	chr2:186448323-186448334
49	FOS	chr2:186448102-186448556	MCF10A-Er-Src	breast:	n/a	chr2:186448323-186448334
50	FOS	chr2:186432027-186432222	MCF10A-Er-Src	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:186412073-186412123	PrEC	prostate:	n/a
2	chr2:186412612-186412662	NHBE	bronchial:	n/a
3	chr2:186412073-186412123	MCF-7	breast:	n/a
4	chr2:186412612-186412662	HCT-116	colon:	n/a
5	chr2:186443903-186443953	GM12891	blood:	n/a
6	chr2:186443903-186443953	PANC-1	pancreas:	n/a
7	chr2:186412073-186412123	GM19239	blood:	n/a
8	chr2:186412073-186412123	SAEC	small airway:	n/a
9	chr2:186412305-186412355	PANC-1	pancreas:	n/a
10	chr2:186412305-186412355	Caco-2	colon:	n/a
11	chr2:186412305-186412355	SK-N-SH_RA	brain:	n/a
12	chr2:186412305-186412355	A549	lung:	n/a
13	chr2:186412305-186412355	LNCaP	prostate:	n/a
14	chr2:186443903-186443953	AG09319	gingival:	n/a
15	chr2:186412612-186412662	NH-A	brain:	n/a
16	chr2:186443903-186443953	SK-N-SH_RA	brain:	n/a
17	chr2:186412073-186412123	HepG2	liver:	n/a
18	chr2:186412073-186412123	SK-N-SH	brain:	n/a
19	chr2:186412612-186412662	GM12878	blood:	n/a
20	chr2:186412305-186412355	HCM	heart:	n/a
21	chr2:186443903-186443953	PFSK-1	brain:	n/a
22	chr2:186412073-186412123	NB4	blood:	n/a
23	chr2:186443903-186443953	NH-A	brain:	n/a
24	chr2:186412073-186412123	RPTEC	kidney:	n/a
25	chr2:186412073-186412123	PANC-1	pancreas:	n/a
26	chr2:186443903-186443953	Caco-2	colon:	n/a
27	chr2:186412305-186412355	HRCEpiC	kidney:	n/a
28	chr2:186412612-186412662	GM06990	blood:	n/a
29	chr2:186412305-186412355	HRPEpiC	eye:	n/a
30	chr2:186412612-186412662	H1-hESC	embryonic stem cell:	embryo
31	chr2:186443903-186443953	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:186412305-186412355	SK-N-MC	brain:	n/a
33	chr2:186412612-186412662	AG09319	gingival:	n/a
34	chr2:186443903-186443953	T-47D	breast:	n/a
35	chr2:186412305-186412355	K562	blood:	n/a
36	chr2:186412305-186412355	HAEpiC	amniotic membrane:	n/a
37	chr2:186412612-186412662	HUVEC	blood vessel:	n/a
38	chr2:186443903-186443953	GM06990	blood:	n/a
39	chr2:186443903-186443953	U87	brain:	n/a
40	chr2:186412073-186412123	HIPEpiC	eye:	n/a
41	chr2:186412612-186412662	CMK	blood:	n/a
42	chr2:186412305-186412355	RPTEC	kidney:	n/a
43	chr2:186412612-186412662	GM12891	blood:	n/a
44	chr2:186412612-186412662	HCM	heart:	n/a
45	chr2:186412612-186412662	ECC-1	luminal epithelium:	n/a
46	chr2:186412612-186412662	MCF10A-Er-Src	breast:	n/a
47	chr2:186412305-186412355	HepG2	liver:	n/a
48	chr2:186412073-186412123	HRE	kidney:	n/a
49	chr2:186412612-186412662	HEEpiC	esophagus:	n/a
50	chr2:186412612-186412662	HEK293	kidney:	embryo

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:186414202..186416307-chr2:186419424..186421288,2	K562	blood:
2	chr2:186414202..186416307-chr2:186419424..186421288,2	K562	blood:
3	chr2:186378260..186381061-chr2:186398766..186401353,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSIP2-5	chr2:186410628-186411001	NONHSAT075962
2	lnc-FSIP2-5	chr2:186403858-186404073	NONHSAT075962
3	lnc-FSIP2-5	chr2:186408484-186409210	NONHSAT075962
4	lnc-FSIP2-5	chr2:186411283-186411299	NONHSAT075962
5	lnc-FSIP2-5	chr2:186410448-186410599	NONHSAT075962
6	lnc-FSIP2-5	chr2:186411316-186411619	NONHSAT075962

No data

Variant related genes	Relation type
ENSG00000225406	TF binding region
ENSG00000225406	CpG island

Extended variants
information (count: 2271 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:2271 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12467299	chr2:186396639-186396640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17331840	chr2:186396644-186396645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184890703	chr2:186396677-186396678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564228013	chr2:186396679-186396680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10931180	chr2:186396694-186396695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs567705236	chr2:186396733-186396734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536679125	chr2:186396782-186396783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190138548	chr2:186396831-186396832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182497484	chr2:186396857-186396858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57068716	chr2:186396858-186396859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551158846	chr2:186396859-186396860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188563795	chr2:186396981-186396982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147434641	chr2:186397022-186397023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558732680	chr2:186397075-186397076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191755482	chr2:186397077-186397078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534647305	chr2:186397091-186397092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139631529	chr2:186397177-186397178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550668339	chr2:186397255-186397256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568944868	chr2:186397276-186397277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565669787	chr2:186397277-186397278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201978885	chr2:186397290-186397291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557125447	chr2:186397377-186397378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575135032	chr2:186397406-186397407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184043323	chr2:186397412-186397413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374880843	chr2:186397488-186397489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189127703	chr2:186397490-186397491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145238068	chr2:186397492-186397493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540646367	chr2:186397498-186397499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192436109	chr2:186397509-186397510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529600800	chr2:186397510-186397511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529930447	chr2:186397534-186397535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551032709	chr2:186397550-186397551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563173141	chr2:186397577-186397578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369206497	chr2:186397649-186397650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182320273	chr2:186397725-186397726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150630376	chr2:186397735-186397736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570577447	chr2:186397739-186397740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534391236	chr2:186397749-186397750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546575884	chr2:186397750-186397751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186641922	chr2:186397757-186397758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535419303	chr2:186397827-186397828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145865139	chr2:186397894-186397895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529667815	chr2:186397942-186397943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556882400	chr2:186397965-186397966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566470143	chr2:186398006-186398007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548177283	chr2:186398032-186398033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533844796	chr2:186398035-186398036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575177560	chr2:186398052-186398053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191931067	chr2:186398059-186398060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557504646	chr2:186398092-186398093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Autism	22543975	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186381400-186432400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:186394400-186402200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:186396600-186396800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:186396800-186398000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:186398000-186398600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:186398600-186402200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:186400600-186405200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:186401600-186402000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:186402000-186403200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:186402200-186403000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:186402200-186405200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:186402200-186405200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:186402400-186402800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:186402400-186405000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:186402600-186404000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:186402600-186404200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:186403000-186403200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:186403000-186403400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:186403000-186403400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr2:186403200-186403400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:186403200-186406600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:186404200-186404600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:186404400-186405000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:186404600-186405200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:186404600-186405400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:186404800-186405200	Active TSS	A549	lung
27	chr2:186404800-186405400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:186405000-186405200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:186405000-186405200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:186405000-186405200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:186405200-186406400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:186405200-186406600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:186406600-186406800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:186406600-186406800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:186417600-186418200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:186425200-186425400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:186425200-186425400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:186425400-186432600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:186425400-186435400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:186428200-186428600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:186432200-186433000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:186432400-186433000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:186432600-186433000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr2:186432600-186433000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:186433000-186434200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:186433000-186447400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:186433400-186433600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:186433600-186433800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:186433800-186434000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:186434000-186434600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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