Variant report

Variant	nsv961919
Chromosome Location	chr2:186411670-186417591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:186414165-186414407	IMR90	lung:	n/a	chr2:186414287-186414298
2	CEBPB	chr2:186412355-186412597	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:186414148-186414425	HepG2	liver:	n/a	chr2:186414287-186414298
4	CEBPB	chr2:186414221-186414307	H1-hESC	embryonic stem cell:	n/a	chr2:186414287-186414298
5	CTCF	chr2:186416060-186416210	HepG2	liver:	n/a	n/a
6	CTCF	chr2:186411871-186411904	Medullo	brain:	n/a	n/a
7	E2F4	chr2:186416158-186416358	MCF10A-Er-Src	breast:	n/a	n/a
8	JUN	chr2:186416083-186416181	HepG2	liver:	n/a	n/a
9	JUND	chr2:186416011-186416239	HepG2	liver:	n/a	n/a
10	MAFF	chr2:186412969-186413189	HepG2	liver:	n/a	chr2:186413033-186413051
11	MAFK	chr2:186412907-186413186	HepG2	liver:	n/a	n/a
12	MAFK	chr2:186416537-186416768	HepG2	liver:	n/a	chr2:186416634-186416648 chr2:186416635-186416646 chr2:186416636-186416647
13	MYC	chr2:186412297-186412320	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:186412181-186412200	A549	lung:	n/a	n/a
15	POLR2A	chr2:186412074-186412228	Gliobla	brain:	n/a	n/a
16	POLR2A	chr2:186412223-186412250	A549	lung:	n/a	n/a
17	POLR2A	chr2:186413776-186413952	ProgFib	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:186412305-186412355	PrEC	prostate:	n/a
2	chr2:186412612-186412662	HCM	heart:	n/a
3	chr2:186412305-186412355	HMEC	breast:	n/a
4	chr2:186412612-186412662	IMR90	lung:	fetal
5	chr2:186412612-186412662	AG10803	skin:	n/a
6	chr2:186412073-186412123	AG10803	skin:	n/a
7	chr2:186412073-186412123	ECC-1	luminal epithelium:	n/a
8	chr2:186412305-186412355	NH-A	brain:	n/a
9	chr2:186412073-186412123	AoSMC	blood vessel:	n/a
10	chr2:186412305-186412355	HUVEC	blood vessel:	n/a
11	chr2:186412073-186412123	HRCEpiC	kidney:	n/a
12	chr2:186412612-186412662	NHBE	bronchial:	n/a
13	chr2:186412305-186412355	H1-hESC	embryonic stem cell:	embryo
14	chr2:186412073-186412123	A549	lung:	n/a
15	chr2:186412305-186412355	LNCaP	prostate:	n/a
16	chr2:186412612-186412662	BE2_C	brain:	n/a
17	chr2:186412612-186412662	MCF-7	breast:	n/a
18	chr2:186412305-186412355	NT2-D1	testis:	n/a
19	chr2:186412612-186412662	MCF10A-Er-Src	breast:	n/a
20	chr2:186412073-186412123	AG09309	skin:	n/a
21	chr2:186412612-186412662	ProgFib	skin:	n/a
22	chr2:186412073-186412123	HAEpiC	amniotic membrane:	n/a
23	chr2:186412612-186412662	HRCEpiC	kidney:	n/a
24	chr2:186412612-186412662	AG09319	gingival:	n/a
25	chr2:186412073-186412123	SK-N-SH_RA	brain:	n/a
26	chr2:186412612-186412662	SK-N-SH	brain:	n/a
27	chr2:186412305-186412355	HCPEpiC	choroid plexus:	n/a
28	chr2:186412305-186412355	Hepatocyte	liver:	n/a
29	chr2:186412073-186412123	H1-hESC	embryonic stem cell:	embryo
30	chr2:186412073-186412123	CMK	blood:	n/a
31	chr2:186412612-186412662	HMEC	breast:	n/a
32	chr2:186412612-186412662	AoSMC	blood vessel:	n/a
33	chr2:186412305-186412355	K562	blood:	n/a
34	chr2:186412612-186412662	RPTEC	kidney:	n/a
35	chr2:186412612-186412662	NB4	blood:	n/a
36	chr2:186412305-186412355	Jurkat	blood:	n/a
37	chr2:186412073-186412123	HIPEpiC	eye:	n/a
38	chr2:186412305-186412355	NHDF-neo	bronchial:	n/a
39	chr2:186412073-186412123	NHDF-neo	bronchial:	n/a
40	chr2:186412305-186412355	MCF-7	breast:	n/a
41	chr2:186412073-186412123	GM06990	blood:	n/a
42	chr2:186412612-186412662	NH-A	brain:	n/a
43	chr2:186412612-186412662	K562	blood:	n/a
44	chr2:186412073-186412123	HCPEpiC	choroid plexus:	n/a
45	chr2:186412305-186412355	GM06990	blood:	n/a
46	chr2:186412305-186412355	ECC-1	luminal epithelium:	n/a
47	chr2:186412305-186412355	SK-N-MC	brain:	n/a
48	chr2:186412305-186412355	PFSK-1	brain:	n/a
49	chr2:186412073-186412123	PrEC	prostate:	n/a
50	chr2:186412612-186412662	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:186414202..186416307-chr2:186419424..186421288,2	K562	blood:

No data

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

Extended variants
information (count: 207 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:207 , 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	rs575658961	chr2:186411811-186411812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200884508	chr2:186411814-186411815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545898773	chr2:186411820-186411821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558092253	chr2:186411847-186411848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573145437	chr2:186411871-186411872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540975663	chr2:186411910-186411911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562347853	chr2:186411943-186411944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529547845	chr2:186411963-186411964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544784622	chr2:186411970-186411971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563263987	chr2:186411985-186411986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201381245	chr2:186412002-186412003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551893085	chr2:186412003-186412004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564146491	chr2:186412006-186412007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375486451	chr2:186412012-186412013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531041104	chr2:186412027-186412028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145160178	chr2:186412034-186412035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535282126	chr2:186412051-186412052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550723028	chr2:186412055-186412056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182499062	chr2:186412061-186412062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187132574	chr2:186412062-186412063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557968245	chr2:186412074-186412075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370217269	chr2:186412096-186412097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61737575	chr2:186412099-186412100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534172053	chr2:186412115-186412116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200713161	chr2:186412142-186412143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371347157	chr2:186412162-186412163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373784826	chr2:186412166-186412167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373847211	chr2:186412184-186412185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574362524	chr2:186412192-186412193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544825951	chr2:186412230-186412231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114620271	chr2:186412247-186412248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578100884	chr2:186412255-186412256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545928809	chr2:186412272-186412273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377693194	chr2:186412279-186412280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564001537	chr2:186412305-186412306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528108397	chr2:186412338-186412339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546152412	chr2:186412339-186412340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561669613	chr2:186412389-186412390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61751900	chr2:186412410-186412411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs78760598	chr2:186412416-186412417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55683178	chr2:186412461-186412462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35710415	chr2:186412482-186412483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550592253	chr2:186412492-186412493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569080749	chr2:186412503-186412504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10191953	chr2:186412573-186412574	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs4233785	chr2:186412592-186412593	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs528134470	chr2:186412613-186412614	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs551885809	chr2:186412726-186412727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192151141	chr2:186412748-186412749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534986352	chr2:186412808-186412809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186381400-186432400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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