Variant report

Variant	nsv1000814
Chromosome Location	chr2:186391490-186520872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:619)
CpG islands
(count:245)
Chromatin interactive
region (count:10)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:186510210-186510829	HepG2	liver:	n/a	n/a
2	ATF2	chr2:186509544-186509954	GM12878	blood:	n/a	n/a
3	BATF	chr2:186509574-186509959	GM12878	blood:	n/a	n/a
4	BATF	chr2:186404043-186404204	GM12878	blood:	n/a	chr2:186404092-186404101
5	BCLAF1	chr2:186509649-186509904	GM12878	blood:	n/a	n/a
6	CBX3	chr2:186447981-186448661	HCT-116	colon:	n/a	n/a
7	CBX3	chr2:186447908-186448538	HCT-116	colon:	n/a	n/a
8	CCNT2	chr2:186508599-186508741	K562	blood:	n/a	n/a
9	CCNT2	chr2:186421366-186421432	K562	blood:	n/a	n/a
10	CEBPB	chr2:186448257-186448571	A549	lung:	n/a	n/a
11	CEBPB	chr2:186478620-186478884	HepG2	liver:	n/a	chr2:186478732-186478743
12	CEBPB	chr2:186448119-186448613	MCF-7	breast:	n/a	n/a
13	CEBPB	chr2:186448143-186448675	HCT-116	colon:	n/a	n/a
14	CEBPB	chr2:186478710-186478888	A549	lung:	n/a	chr2:186478732-186478743
15	CEBPB	chr2:186510298-186510570	HepG2	liver:	n/a	chr2:186510394-186510405
16	CEBPB	chr2:186510221-186510640	HepG2	liver:	n/a	chr2:186510394-186510405
17	CEBPB	chr2:186412355-186412597	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:186465657-186465842	A549	lung:	n/a	n/a
19	CEBPB	chr2:186414221-186414307	H1-hESC	embryonic stem cell:	n/a	chr2:186414287-186414298
20	CEBPB	chr2:186448144-186448607	MCF-7	breast:	n/a	n/a
21	CEBPB	chr2:186425216-186425355	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr2:186414165-186414407	IMR90	lung:	n/a	chr2:186414287-186414298
23	CEBPB	chr2:186448257-186448516	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:186510299-186510509	HepG2	liver:	n/a	chr2:186510394-186510405
25	CEBPB	chr2:186448129-186448586	A549	lung:	n/a	n/a
26	CEBPB	chr2:186414148-186414425	HepG2	liver:	n/a	chr2:186414287-186414298
27	CEBPB	chr2:186510245-186510608	HepG2	liver:	n/a	chr2:186510394-186510405
28	CEBPB	chr2:186447957-186448588	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr2:186448052-186448719	HCT-116	colon:	n/a	n/a
30	CEBPD	chr2:186510309-186510546	HepG2	liver:	n/a	chr2:186510394-186510405
31	CHD1	chr2:186432962-186433012	GM12878	blood:	n/a	n/a
32	CHD2	chr2:186510399-186510485	HepG2	liver:	n/a	n/a
33	CHD2	chr2:186448192-186448572	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr2:186493960-186494110	GM12874	blood:	n/a	n/a
35	CTCF	chr2:186493940-186494090	GM12873	blood:	n/a	n/a
36	CTCF	chr2:186394437-186394585	GM12878	blood:	n/a	n/a
37	CTCF	chr2:186483660-186483810	HMEC	breast:	n/a	n/a
38	CTCF	chr2:186494020-186494170	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:186493920-186494070	GM12870	blood:	n/a	n/a
40	CTCF	chr2:186493960-186494110	GM12864	blood:	n/a	n/a
41	CTCF	chr2:186494000-186494150	NHEK	skin:	n/a	n/a
42	CTCF	chr2:186483540-186483690	GM12873	blood:	n/a	n/a
43	CTCF	chr2:186473660-186473814	HepG2	liver:	n/a	chr2:186473696-186473704
44	CTCF	chr2:186493883-186494140	MCF-7	breast:	n/a	n/a
45	CTCF	chr2:186493940-186494090	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr2:186493860-186494010	HPF	lung:	n/a	n/a
47	CTCF	chr2:186494000-186494150	HFF	foreskin:	n/a	n/a
48	CTCF	chr2:186483583-186483708	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:186493970-186494090	A549	lung:	n/a	n/a
50	CTCF	chr2:186493620-186493770	HEEpiC	esophagus:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:186412612-186412662	PANC-1	pancreas:	n/a
2	chr2:186412612-186412662	PANC-1	pancreas:	n/a
3	chr2:186412612-186412662	AoSMC	blood vessel:	n/a
4	chr2:186412612-186412662	SK-N-MC	brain:	n/a
5	chr2:186412305-186412355	AG10803	skin:	n/a
6	chr2:186412073-186412123	HRPEpiC	eye:	n/a
7	chr2:186412305-186412355	GM12892	blood:	n/a
8	chr2:186412612-186412662	HRE	kidney:	n/a
9	chr2:186443903-186443953	GM12891	blood:	n/a
10	chr2:186412305-186412355	HCM	heart:	n/a
11	chr2:186412073-186412123	AG04449	skin:	fetal
12	chr2:186412305-186412355	HIPEpiC	eye:	n/a
13	chr2:186412073-186412123	HEK293	kidney:	embryo
14	chr2:186412305-186412355	NH-A	brain:	n/a
15	chr2:186443903-186443953	SAEC	small airway:	n/a
16	chr2:186412073-186412123	RPTEC	kidney:	n/a
17	chr2:186443903-186443953	ECC-1	luminal epithelium:	n/a
18	chr2:186412305-186412355	SKMC	muscle:	n/a
19	chr2:186412612-186412662	HIPEpiC	eye:	n/a
20	chr2:186412073-186412123	SKMC	muscle:	n/a
21	chr2:186412612-186412662	NB4	blood:	n/a
22	chr2:186412612-186412662	GM19239	blood:	n/a
23	chr2:186443903-186443953	Hepatocyte	liver:	n/a
24	chr2:186412305-186412355	ProgFib	skin:	n/a
25	chr2:186412612-186412662	HCT-116	colon:	n/a
26	chr2:186412305-186412355	NT2-D1	testis:	n/a
27	chr2:186412305-186412355	SK-N-SH	brain:	n/a
28	chr2:186412612-186412662	HCF	heart:	n/a
29	chr2:186412305-186412355	HMEC	breast:	n/a
30	chr2:186412305-186412355	HCT-116	colon:	n/a
31	chr2:186412305-186412355	AG09309	skin:	n/a
32	chr2:186412305-186412355	AG09319	gingival:	n/a
33	chr2:186412305-186412355	PrEC	prostate:	n/a
34	chr2:186412612-186412662	U87	brain:	n/a
35	chr2:186443903-186443953	Jurkat	blood:	n/a
36	chr2:186412305-186412355	GM12878	blood:	n/a
37	chr2:186412612-186412662	NH-A	brain:	n/a
38	chr2:186412073-186412123	HUVEC	blood vessel:	n/a
39	chr2:186443903-186443953	IMR90	lung:	fetal
40	chr2:186412305-186412355	HEEpiC	esophagus:	n/a
41	chr2:186412612-186412662	NHBE	bronchial:	n/a
42	chr2:186412305-186412355	Hepatocyte	liver:	n/a
43	chr2:186412612-186412662	HMEC	breast:	n/a
44	chr2:186443903-186443953	NT2-D1	testis:	n/a
45	chr2:186443903-186443953	CMK	blood:	n/a
46	chr2:186412612-186412662	NHDF-neo	bronchial:	n/a
47	chr2:186412305-186412355	MCF-7	breast:	n/a
48	chr2:186412612-186412662	CMK	blood:	n/a
49	chr2:186412612-186412662	HCM	heart:	n/a
50	chr2:186412612-186412662	AG04449	skin:	fetal

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:186378260..186381061-chr2:186398766..186401353,2	K562	blood:
2	chr2:186508722..186510476-chr2:186513123..186514706,2	K562	blood:
3	chr16:88876629..88878732-chr2:186490716..186492785,2	MCF-7	breast:
4	chr2:186493563..186494107-chr2:187121512..187122407,2	MCF-7	breast:
5	chr2:186414202..186416307-chr2:186419424..186421288,2	K562	blood:
6	chr2:186508722..186510476-chr2:186513123..186514706,2	K562	blood:
7	chr2:186414202..186416307-chr2:186419424..186421288,2	K562	blood:
8	chr2:186493592..186494450-chr2:186603275..186603898,3	MCF-7	breast:
9	chr2:186492938..186493701-chr2:186603922..186604721,2	MCF-7	breast:
10	chr2:186473268..186473794-chr2:186603435..186603983,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000225406	TF binding region
ENSG00000225406	CpG island
ENSG00000226747	chromatin interactions
ENSG00000188738	chromatin interactions
ENSG00000198931	chromatin interactions

Extended variants
information (count: 4124 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:4124 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114593859	chr2:186391504-186391505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182510718	chr2:186391507-186391508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562909786	chr2:186391577-186391578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573207582	chr2:186391598-186391599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141641509	chr2:186391602-186391603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372446210	chr2:186391648-186391649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187468106	chr2:186391724-186391725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540316570	chr2:186391762-186391763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150576742	chr2:186391764-186391765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192024077	chr2:186391766-186391767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549611248	chr2:186391820-186391821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139628284	chr2:186391866-186391867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528997148	chr2:186391911-186391912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533540634	chr2:186391948-186391949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77891213	chr2:186392046-186392047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546889854	chr2:186392053-186392054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371118988	chr2:186392054-186392055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71979633	chr2:186392061-186392062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571987514	chr2:186392066-186392067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397790899	chr2:186392071-186392072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567108578	chr2:186392072-186392073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184214816	chr2:186392110-186392111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550947494	chr2:186392130-186392131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566445654	chr2:186392141-186392142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374503231	chr2:186392163-186392164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537808490	chr2:186392165-186392166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552906972	chr2:186392209-186392210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577019324	chr2:186392213-186392214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188864190	chr2:186392222-186392223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147398560	chr2:186392236-186392237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536546721	chr2:186392353-186392354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538034024	chr2:186392374-186392375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554908131	chr2:186392462-186392463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193206767	chr2:186392477-186392478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544444860	chr2:186392514-186392515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139697787	chr2:186392528-186392529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184388807	chr2:186392542-186392543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545450291	chr2:186392548-186392549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189418722	chr2:186392617-186392618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145410423	chr2:186392637-186392638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542914327	chr2:186392669-186392670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78335198	chr2:186392670-186392671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145263398	chr2:186392682-186392683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35241077	chr2:186392729-186392730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149125854	chr2:186392733-186392734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563108019	chr2:186392794-186392795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530285090	chr2:186392805-186392806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74976369	chr2:186392820-186392821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562945231	chr2:186392829-186392830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578035185	chr2:186392848-186392849	Weak 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
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
Ependymoma	20639864	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186359800-186393400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:186381200-186393800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:186381400-186432400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:186393800-186394200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:186393800-186394600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:186394000-186394400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:186394000-186394600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:186394400-186402200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:186396600-186396800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:186396800-186398000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:186398000-186398600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:186398600-186402200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:186400600-186405200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:186401600-186402000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:186402000-186403200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:186402200-186403000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:186402200-186405200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:186402200-186405200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:186402400-186402800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:186402400-186405000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:186402600-186404000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:186402600-186404200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:186403000-186403200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:186403000-186403400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:186403000-186403400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:186403200-186403400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:186403200-186406600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:186404200-186404600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:186404400-186405000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:186404600-186405200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:186404600-186405400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:186404800-186405200	Active TSS	A549	lung
33	chr2:186404800-186405400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:186405000-186405200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr2:186405000-186405200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:186405000-186405200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:186405200-186406400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:186405200-186406600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:186406600-186406800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr2:186406600-186406800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:186417600-186418200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:186425200-186425400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:186425200-186425400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:186425400-186432600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:186425400-186435400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:186428200-186428600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:186432200-186433000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:186432400-186433000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:186432600-186433000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr2:186432600-186433000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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