Variant report

Variant	nsv1007792
Chromosome Location	chr2:185199294-185283055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:307)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

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	chr2:185207011-185207394	HepG2	liver:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
7	CEBPB	chr2:185274251-185274354	K562	blood:	n/a	n/a
8	CEBPB	chr2:185207055-185207352	Hela-S3	cervix:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
9	CEBPB	chr2:185251698-185251921	Hela-S3	cervix:	n/a	chr2:185251752-185251763
10	CEBPB	chr2:185234071-185234445	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
11	CEBPB	chr2:185255484-185255530	HepG2	liver:	n/a	chr2:185255514-185255525
12	CEBPB	chr2:185228101-185228119	K562	blood:	n/a	n/a
13	CEBPB	chr2:185251568-185251928	HepG2	liver:	n/a	chr2:185251752-185251763
14	CEBPB	chr2:185234153-185234367	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
15	CEBPB	chr2:185251635-185251802	K562	blood:	n/a	chr2:185251752-185251763
16	CEBPB	chr2:185207047-185207335	A549	lung:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
17	CEBPB	chr2:185225898-185226098	K562	blood:	n/a	n/a
18	CEBPB	chr2:185220639-185220873	HepG2	liver:	n/a	n/a
19	CTCF	chr2:185228061-185228211	K562	blood:	n/a	n/a
20	CTCF	chr2:185228060-185228210	GM06990	blood:	n/a	n/a
21	CTCF	chr2:185223660-185223810	HepG2	liver:	n/a	n/a
22	CTCF	chr2:185211510-185211604	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr2:185227882-185228392	MCF-7	breast:	n/a	n/a
24	CTCF	chr2:185228060-185228210	GM12873	blood:	n/a	n/a
25	CTCF	chr2:185228034-185228217	MCF-7	breast:	n/a	n/a
26	CTCF	chr2:185258955-185259023	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:185228100-185228139	GM13977	blood:	n/a	n/a
28	CTCF	chr2:185228060-185228210	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr2:185228099-185228198	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr2:185228051-185228227	HepG2	liver:	n/a	n/a
31	CTCF	chr2:185228020-185228170	AG04449	skin:	n/a	n/a
32	CTCF	chr2:185228021-185228264	MCF-7	breast:	n/a	n/a
33	CTCF	chr2:185228058-185228205	GM19238	blood:	n/a	n/a
34	CTCF	chr2:185228086-185228183	NHEK	skin:	n/a	n/a
35	CTCF	chr2:185228009-185228188	T-47D	breast:	n/a	n/a
36	CTCF	chr2:185228060-185228211	GM12892	blood:	n/a	n/a
37	CTCF	chr2:185228040-185228190	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:185228040-185228190	GM12864	blood:	n/a	n/a
39	CTCF	chr2:185264260-185264410	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr2:185228060-185228210	Caco-2	colon:	n/a	n/a
41	CTCF	chr2:185228077-185228152	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr2:185228080-185228230	GM12865	blood:	n/a	n/a
43	CTCF	chr2:185228020-185228170	BE2_C	brain:	n/a	n/a
44	CTCF	chr2:185228088-185228185	GM19240	blood:	n/a	n/a
45	CTCF	chr2:185228044-185228240	Gliobla	brain:	n/a	n/a
46	CTCF	chr2:185228180-185228330	GM12872	blood:	n/a	n/a
47	CTCF	chr2:185228020-185228170	HEK293	kidney:	n/a	n/a
48	CTCF	chr2:185228089-185228206	GM10248	blood:	n/a	n/a
49	CTCF	chr2:185228060-185228210	HepG2	liver:	n/a	n/a
50	CTCF	chr2:185227980-185228130	GM06990	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:185208077..185209998-chr2:185211977..185213608,2	K562	blood:
2	chr2:185103488..185105465-chr2:185244326..185245928,2	K562	blood:
3	chr2:185223918..185225918-chr2:185227977..185230621,2	K562	blood:
4	chr2:185230131..185232758-chr2:185233211..185235341,2	MCF-7	breast:
5	chr2:185267016..185267836-chr3:27870668..27871485,2	MCF-7	breast:
6	chr2:185223918..185225918-chr2:185227977..185230621,2	K562	blood:
7	chr2:185226895..185229045-chr2:185330186..185332070,2	K562	blood:
8	chr2:185204369..185206130-chr2:185218623..185221505,2	K562	blood:
9	chr2:185204369..185206130-chr2:185218623..185221505,2	K562	blood:
10	chr2:185066479..185068495-chr2:185209496..185211402,2	K562	blood:
11	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
12	chr2:185201237..185203817-chr2:185332460..185335138,2	K562	blood:
13	chr2:185230131..185232758-chr2:185233211..185235341,2	MCF-7	breast:
14	chr2:185208077..185209998-chr2:185211977..185213608,2	K562	blood:
15	chr2:185065862..185068679-chr2:185266062..185268642,2	K562	blood:
16	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:

(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: 745 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:745 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372197963	chr2:185200079-185200080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79530670	chr2:185200120-185200121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113979264	chr2:185200204-185200205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528891422	chr2:185200222-185200223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529954664	chr2:185200309-185200310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189972771	chr2:185200413-185200414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562525450	chr2:185200441-185200442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182135033	chr2:185200443-185200444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551484890	chr2:185200454-185200455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374147101	chr2:185200511-185200512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116460712	chr2:185200585-185200586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369790190	chr2:185200586-185200587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75803818	chr2:185200601-185200602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144508628	chr2:185200602-185200603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376171608	chr2:185200630-185200631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537808514	chr2:185200644-185200645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571515123	chr2:185200655-185200656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142237751	chr2:185200656-185200657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556154529	chr2:185200661-185200662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571380006	chr2:185200671-185200672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147840315	chr2:185200676-185200677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554274601	chr2:185200722-185200723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572537922	chr2:185200735-185200736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76057386	chr2:185200752-185200753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188060207	chr2:185200753-185200754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542285413	chr2:185200758-185200759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4666654	chr2:185200769-185200770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs4666655	chr2:185200770-185200771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs150395333	chr2:185200839-185200840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77686763	chr2:185200874-185200875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397986911	chr2:185200879-185200880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532980150	chr2:185200889-185200890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374710988	chr2:185200925-185200926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530140883	chr2:185200948-185200949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145257276	chr2:185200975-185200976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192817483	chr2:185200982-185200983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149161045	chr2:185200991-185200992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549170321	chr2:185201016-185201017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567189471	chr2:185201074-185201075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528885667	chr2:185201099-185201100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369156418	chr2:185201131-185201132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549691808	chr2:185201156-185201157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35192699	chr2:185201161-185201162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571290406	chr2:185201173-185201174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539062893	chr2:185201197-185201198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553970290	chr2:185201218-185201219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34568398	chr2:185201225-185201226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551507297	chr2:185201280-185201281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371770680	chr2:185201281-185201282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536401947	chr2:185201294-185201295	Weak transcription	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185200000-185200600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:185200600-185201600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:185201400-185201800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
4	chr2:185201600-185201800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:185201600-185202000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
6	chr2:185201600-185202000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:185201600-185203800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr2:185202000-185204000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:185202200-185202600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr2:185202600-185203000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr2:185202800-185203000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:185203000-185204000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:185203000-185204400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr2:185203200-185203400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:185203200-185203400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
16	chr2:185203200-185203800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:185203200-185204200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr2:185203200-185204600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr2:185203400-185203600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr2:185203400-185203600	Enhancers	Fetal Kidney	kidney
21	chr2:185203800-185204000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
22	chr2:185203800-185204000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
23	chr2:185203800-185204200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr2:185204000-185205400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:185204200-185204400	Enhancers	Fetal Kidney	kidney
26	chr2:185204200-185204600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr2:185204200-185205400	Enhancers	HUVEC	blood vessel
28	chr2:185204400-185204800	Enhancers	NH-A	brain
29	chr2:185204800-185205200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr2:185204800-185205200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr2:185205400-185210600	Weak transcription	HUVEC	blood vessel
32	chr2:185207000-185207400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr2:185207000-185207400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
34	chr2:185207000-185207400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
35	chr2:185207000-185207400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
36	chr2:185207000-185207600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr2:185207000-185207600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:185207000-185208000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:185207200-185207400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:185207200-185207400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
41	chr2:185207200-185207600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr2:185207200-185207600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr2:185210600-185211600	Enhancers	HUVEC	blood vessel
44	chr2:185211000-185211400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:185233000-185233800	Active TSS	Liver	Liver
46	chr2:185233600-185234200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:185233800-185234200	Flanking Active TSS	Liver	Liver
48	chr2:185234200-185234800	Active TSS	Liver	Liver
49	chr2:185234800-185235200	Weak transcription	Liver	Liver
50	chr2:185235200-185235800	ZNF genes & repeats	Liver	Liver

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