Variant report

Variant	nsv875500
Chromosome Location	chr2:185212246-185284429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:236)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:236 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:185234055-185234428	HepG2	liver:	n/a	n/a
2	BHLHE40	chr2:185227990-185228275	HepG2	liver:	n/a	n/a
3	BHLHE40	chr2:185251589-185251715	K562	blood:	n/a	n/a
4	BRCA1	chr2:185234005-185234016	HepG2	liver:	n/a	n/a
5	CBX3	chr2:185271763-185272041	K562	blood:	n/a	n/a
6	CEBPB	chr2:185234071-185234445	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
7	CEBPB	chr2:185251635-185251802	K562	blood:	n/a	chr2:185251752-185251763
8	CEBPB	chr2:185228101-185228119	K562	blood:	n/a	n/a
9	CEBPB	chr2:185255484-185255530	HepG2	liver:	n/a	chr2:185255514-185255525
10	CEBPB	chr2:185251568-185251928	HepG2	liver:	n/a	chr2:185251752-185251763
11	CEBPB	chr2:185251698-185251921	Hela-S3	cervix:	n/a	chr2:185251752-185251763
12	CEBPB	chr2:185225898-185226098	K562	blood:	n/a	n/a
13	CEBPB	chr2:185274251-185274354	K562	blood:	n/a	n/a
14	CEBPB	chr2:185234153-185234367	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
15	CEBPB	chr2:185220639-185220873	HepG2	liver:	n/a	n/a
16	CTCF	chr2:185228086-185228183	NHEK	skin:	n/a	n/a
17	CTCF	chr2:185228077-185228152	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr2:185228044-185228240	Gliobla	brain:	n/a	n/a
19	CTCF	chr2:185228120-185228270	GM12875	blood:	n/a	n/a
20	CTCF	chr2:185228060-185228210	GM06990	blood:	n/a	n/a
21	CTCF	chr2:185228061-185228211	K562	blood:	n/a	n/a
22	CTCF	chr2:185228180-185228330	GM12872	blood:	n/a	n/a
23	CTCF	chr2:185228089-185228180	ProgFib	skin:	n/a	n/a
24	CTCF	chr2:185258955-185259023	MCF-7	breast:	n/a	n/a
25	CTCF	chr2:185227960-185228110	GM12868	blood:	n/a	n/a
26	CTCF	chr2:185228020-185228170	AG04449	skin:	n/a	n/a
27	CTCF	chr2:185227882-185228392	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:185223660-185223810	HepG2	liver:	n/a	n/a
29	CTCF	chr2:185228117-185228210	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr2:185228020-185228170	HEK293	kidney:	n/a	n/a
31	CTCF	chr2:185228060-185228210	Caco-2	colon:	n/a	n/a
32	CTCF	chr2:185227980-185228130	GM06990	blood:	n/a	n/a
33	CTCF	chr2:185228000-185228150	Caco-2	colon:	n/a	n/a
34	CTCF	chr2:185264107-185264466	HCT-116	colon:	n/a	n/a
35	CTCF	chr2:185228060-185228210	HepG2	liver:	n/a	n/a
36	CTCF	chr2:185228020-185228170	BE2_C	brain:	n/a	n/a
37	CTCF	chr2:185228060-185228211	GM12892	blood:	n/a	n/a
38	CTCF	chr2:185228080-185228230	NB4	blood:	n/a	n/a
39	CTCF	chr2:185228080-185228230	GM12874	blood:	n/a	n/a
40	CTCF	chr2:185227978-185228310	GM12878	blood:	n/a	n/a
41	CTCF	chr2:185228040-185228190	K562	blood:	n/a	n/a
42	CTCF	chr2:185264221-185264400	GM12878	blood:	n/a	n/a
43	CTCF	chr2:185228021-185228264	MCF-7	breast:	n/a	n/a
44	CTCF	chr2:185228040-185228190	GM12864	blood:	n/a	n/a
45	CTCF	chr2:185227881-185228277	MCF-7	breast:	n/a	n/a
46	CTCF	chr2:185228051-185228227	HepG2	liver:	n/a	n/a
47	CTCF	chr2:185264260-185264410	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr2:185228060-185228210	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr2:185228088-185228185	GM19240	blood:	n/a	n/a
50	CTCF	chr2:185264290-185264447	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:185065862..185068679-chr2:185266062..185268642,2	K562	blood:
2	chr2:185223918..185225918-chr2:185227977..185230621,2	K562	blood:
3	chr2:185103488..185105465-chr2:185244326..185245928,2	K562	blood:
4	chr2:185267016..185267836-chr3:27870668..27871485,2	MCF-7	breast:
5	chr2:185204369..185206130-chr2:185218623..185221505,2	K562	blood:
6	chr2:185230131..185232758-chr2:185233211..185235341,2	MCF-7	breast:
7	chr2:185226895..185229045-chr2:185330186..185332070,2	K562	blood:
8	chr2:185208077..185209998-chr2:185211977..185213608,2	K562	blood:
9	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
10	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
11	chr2:185223918..185225918-chr2:185227977..185230621,2	K562	blood:
12	chr2:185230131..185232758-chr2:185233211..185235341,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF804A-3	chr2:185246875-185247280	NONHSAT075951
2	lnc-ZNF804A-3	chr2:185244856-185245013	NONHSAT075951

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548ae	chr2:185243744-185243764	MIMAT0018954

No data

Variant related genes	Relation type
MIR548AE1	TF binding region

Extended variants
information (count: 305 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61196908	chr2:185233001-185233002	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74846548	chr2:185233044-185233045	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs551899694	chr2:185233058-185233059	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185480163	chr2:185233059-185233060	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs527902273	chr2:185233090-185233091	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs549670330	chr2:185233123-185233124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs551840891	chr2:185233129-185233130	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs144891530	chr2:185233145-185233146	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs529679366	chr2:185233150-185233151	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs13387150	chr2:185233191-185233192	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550293963	chr2:185233203-185233204	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs202128573	chr2:185233244-185233245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs374765371	chr2:185233246-185233247	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568879511	chr2:185233258-185233259	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539112620	chr2:185233316-185233317	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs149070000	chr2:185233324-185233325	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs188345863	chr2:185233337-185233338	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs372468142	chr2:185233422-185233423	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs114441508	chr2:185233436-185233437	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs566473376	chr2:185233451-185233452	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs142118520	chr2:185233492-185233493	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs544535901	chr2:185233514-185233515	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs556282553	chr2:185233519-185233520	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577973664	chr2:185233539-185233540	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs151156826	chr2:185233600-185233601	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs560588599	chr2:185233610-185233611	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533973866	chr2:185233657-185233658	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs538756567	chr2:185233670-185233671	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs559218919	chr2:185233672-185233673	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs140353481	chr2:185233687-185233688	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs576980604	chr2:185233702-185233703	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs180814021	chr2:185233723-185233724	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs145417300	chr2:185233738-185233739	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs558487613	chr2:185233760-185233761	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs185513781	chr2:185233769-185233770	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs188366885	chr2:185233774-185233775	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs550451508	chr2:185233817-185233818	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568717359	chr2:185233873-185233874	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs570730701	chr2:185233890-185233891	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs138157799	chr2:185233901-185233902	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs551163533	chr2:185233930-185233931	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs566210667	chr2:185233966-185233967	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs533677941	chr2:185234034-185234035	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555133090	chr2:185234036-185234037	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78346013	chr2:185234044-185234045	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs114158182	chr2:185234067-185234068	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs556435543	chr2:185234077-185234078	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs7349369	chr2:185234102-185234103	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs370193434	chr2:185234148-185234149	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs372892894	chr2:185234173-185234174	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
low-grade B-cell lymphoma tumor	18367492	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Psychiatric disorder	20548289	CNVD
Psychosis	20048749	CNVD
Rectal cancer	20877625	CNVD
Schizophrenia	20548289	CNVD
anxiety disorder	20548289	CNVD
Autism	20548289	CNVD
Bipolar disorder	20548289	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185233000-185233800	Active TSS	Liver	Liver
2	chr2:185233600-185234200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:185233800-185234200	Flanking Active TSS	Liver	Liver
4	chr2:185234200-185234800	Active TSS	Liver	Liver
5	chr2:185234800-185235200	Weak transcription	Liver	Liver
6	chr2:185235200-185235800	ZNF genes & repeats	Liver	Liver
7	chr2:185235800-185236200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:185235800-185237200	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:185236200-185236600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:185236200-185237200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:185236200-185237800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:185236400-185237200	Enhancers	Fetal Stomach	stomach
13	chr2:185236600-185237200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:185236600-185237600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:185236600-185238200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:185236800-185237400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:185236800-185237400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:185236800-185237600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:185236800-185237600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:185236800-185237600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:185236800-185237600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:185236800-185238200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:185237000-185237600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:185237200-185237600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr2:185251600-185252200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:185259400-185260000	Enhancers	Liver	Liver
27	chr2:185270400-185270800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:185284200-185284600	Enhancers	HUES48 Cell Line	embryonic stem cell

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