Variant report

Variant	nsv548492
Chromosome Location	chr1:189050017-189128124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:349)
CpG islands
(count:0)
Chromatin interactive
region (count:34)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:349 , 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	chr1:189118670-189118888	K562	blood:	n/a	n/a
2	ATF1	chr1:189118704-189119125	K562	blood:	n/a	n/a
3	BCLAF1	chr1:189118637-189119186	K562	blood:	n/a	n/a
4	BHLHE40	chr1:189118889-189119095	K562	blood:	n/a	n/a
5	CBX3	chr1:189118747-189119060	K562	blood:	n/a	n/a
6	CBX3	chr1:189118641-189119561	K562	blood:	n/a	n/a
7	CBX3	chr1:189094793-189095258	HCT-116	colon:	n/a	n/a
8	CEBPB	chr1:189118695-189119077	K562	blood:	n/a	n/a
9	CEBPB	chr1:189055124-189055368	A549	lung:	n/a	n/a
10	CEBPB	chr1:189118636-189118957	K562	blood:	n/a	n/a
11	CEBPD	chr1:189118669-189119222	K562	blood:	n/a	n/a
12	CHD2	chr1:189118857-189119073	K562	blood:	n/a	n/a
13	CHD2	chr1:189118851-189119132	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr1:189109985-189110031	K562	blood:	n/a	n/a
15	CREB1	chr1:189118777-189119112	A549	lung:	n/a	n/a
16	CTCF	chr1:189119020-189119170	GM12872	blood:	n/a	n/a
17	CTCF	chr1:189118925-189119141	MCF-7	breast:	n/a	n/a
18	CTCF	chr1:189118920-189119070	SAEC	small airway:	n/a	n/a
19	CTCF	chr1:189118960-189119110	GM12872	blood:	n/a	n/a
20	CTCF	chr1:189119020-189119170	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr1:189054679-189055027	MCF-7	breast:	n/a	chr1:189054854-189054875
22	CTCF	chr1:189118880-189119030	A549	lung:	n/a	n/a
23	CTCF	chr1:189119000-189119150	HEK293	kidney:	n/a	n/a
24	CTCF	chr1:189118908-189119166	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr1:189118960-189119110	A549	lung:	n/a	n/a
26	CTCF	chr1:189053184-189053269	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr1:189118834-189119203	A549	lung:	n/a	n/a
28	CTCF	chr1:189118871-189119124	A549	lung:	n/a	n/a
29	CTCF	chr1:189118887-189119194	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:189061917-189062041	GM10248	blood:	n/a	n/a
31	CTCF	chr1:189118941-189119159	GM12891	blood:	n/a	n/a
32	CTCF	chr1:189118960-189119110	GM12868	blood:	n/a	n/a
33	CTCF	chr1:189118960-189119110	K562	blood:	n/a	n/a
34	CTCF	chr1:189071260-189071410	GM12873	blood:	n/a	n/a
35	CTCF	chr1:189054696-189055012	MCF-7	breast:	n/a	chr1:189054854-189054875
36	CTCF	chr1:189054645-189055127	HCT-116	colon:	n/a	chr1:189054854-189054875
37	CTCF	chr1:189118841-189119319	T-47D	breast:	n/a	n/a
38	CTCF	chr1:189118895-189119165	MCF-7	breast:	n/a	n/a
39	CTCF	chr1:189088177-189088196	GM20000	blood:	n/a	n/a
40	CTCF	chr1:189118960-189119110	NB4	blood:	n/a	n/a
41	CTCF	chr1:189118966-189119149	HepG2	liver:	n/a	n/a
42	CTCF	chr1:189119022-189119130	LNCaP	prostate:	n/a	n/a
43	CTCF	chr1:189118980-189119130	MCF-7	breast:	n/a	n/a
44	CTCF	chr1:189080056-189080085	GM10248	blood:	n/a	n/a
45	CTCF	chr1:189118980-189119130	GM12878	blood:	n/a	n/a
46	CTCF	chr1:189118794-189119175	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr1:189102891-189102940	GM20000	blood:	n/a	n/a
48	CTCF	chr1:189119040-189119190	RPTEC	kidney:	n/a	n/a
49	CTCF	chr1:189118900-189119187	A549	lung:	n/a	n/a
50	CTCF	chr1:189118790-189119208	K562	blood:	n/a	n/a

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189118996..189121109-chr1:189287929..189290792,2	K562	blood:
2	chr1:189109069..189111895-chr1:189118017..189120459,2	K562	blood:
3	chr1:189118692..189120237-chr1:189161776..189163535,2	K562	blood:
4	chr1:189051136..189054044-chr1:189118022..189120373,2	K562	blood:
5	chr1:189121464..189123287-chr1:189388904..189390413,2	K562	blood:
6	chr1:189112586..189116347-chr1:189117211..189120686,6	K562	blood:
7	chr1:189117897..189121261-chr1:189121594..189126238,14	K562	blood:
8	chr1:189118758..189120623-chr1:189121928..189123602,2	MCF-7	breast:
9	chr1:188902220..188904596-chr1:189118871..189120838,2	K562	blood:
10	chr1:189103992..189106373-chr1:189109756..189111271,2	MCF-7	breast:
11	chr1:189117456..189122192-chr1:189126377..189132093,10	K562	blood:
12	chr1:189119463..189122039-chr1:189394507..189396400,2	K562	blood:
13	chr1:189110161..189112248-chr17:56736351..56738349,2	MCF-7	breast:
14	chr1:189051136..189054044-chr1:189118022..189120373,2	K562	blood:
15	chr1:189117897..189121261-chr1:189121594..189126238,14	K562	blood:
16	chr1:188432976..188433772-chr1:189118543..189119245,2	MCF-7	breast:
17	chr1:189078335..189080710-chr1:189084849..189087799,2	K562	blood:
18	chr1:189117678..189120245-chr1:189847842..189850269,2	K562	blood:
19	chr1:189118758..189120623-chr1:189121928..189123602,2	MCF-7	breast:
20	chr1:189055283..189057511-chr1:189118631..189120197,2	K562	blood:
21	chr1:189117659..189120234-chr6:30584654..30587422,2	K562	blood:
22	chr1:189112586..189116347-chr1:189117211..189120686,6	K562	blood:
23	chr1:189103992..189106373-chr1:189109756..189111271,2	MCF-7	breast:
24	chr1:189078335..189080710-chr1:189084849..189087799,2	K562	blood:
25	chr1:189117456..189122192-chr1:189126377..189132093,10	K562	blood:
26	chr1:188751072..188751772-chr1:189118548..189119200,2	MCF-7	breast:
27	chr1:189055283..189057511-chr1:189118631..189120197,2	K562	blood:
28	chr1:189117472..189119445-chr1:189184383..189186495,2	K562	blood:
29	chr1:189067488..189069433-chr1:189071978..189073549,2	K562	blood:
30	chr1:187897177..187897914-chr1:189054892..189055529,2	MCF-7	breast:
31	chr1:189109069..189111895-chr1:189118017..189120459,2	K562	blood:
32	chr1:189116028..189120237-chr1:189160506..189163276,3	K562	blood:
33	chr1:189032912..189034690-chr1:189118689..189120245,2	K562	blood:
34	chr1:189067488..189069433-chr1:189071978..189073549,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLA2G4A-7	chr1:189119674-189119918	NONHSAT008484
2	lnc-PLA2G4A-7	chr1:189119673-189119860	XLOC_000502
3	lnc-PLA2G4A-7	chr1:189118917-189119007	XLOC_000502

No data

Variant related genes	Relation type
ENSG00000226196	TF binding region
ENSG00000202077	chromatin interactions
ENSG00000204568	chromatin interactions
ENSG00000204569	chromatin interactions

Extended variants
information (count: 954 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:954 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150514303	chr1:189055003-189055004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140725544	chr1:189055030-189055031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548156995	chr1:189055037-189055038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377279338	chr1:189055096-189055097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527755073	chr1:189055116-189055117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189666412	chr1:189055120-189055121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566617602	chr1:189055123-189055124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538835581	chr1:189055124-189055125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558820349	chr1:189055154-189055155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569149610	chr1:189055158-189055159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12563824	chr1:189055180-189055181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538158084	chr1:189055220-189055221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183018801	chr1:189055243-189055244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574359214	chr1:189055273-189055274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540275313	chr1:189055281-189055282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553582135	chr1:189055283-189055284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576910743	chr1:189055335-189055336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187976529	chr1:189055339-189055340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112814651	chr1:189055348-189055349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572274408	chr1:189055370-189055371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73044195	chr1:189055379-189055380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183294051	chr1:189055414-189055415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527689972	chr1:189055431-189055432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187583359	chr1:189055462-189055463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139831922	chr1:189055494-189055495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192262986	chr1:189055505-189055506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143159047	chr1:189055524-189055525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184848426	chr1:189055526-189055527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538096473	chr1:189055586-189055587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188052672	chr1:189055595-189055596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192562728	chr1:189091022-189091023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6702671	chr1:189091127-189091128	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553808094	chr1:189091206-189091207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570411657	chr1:189091223-189091224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139129727	chr1:189091246-189091247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556194006	chr1:189091254-189091255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576205246	chr1:189091330-189091331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574195332	chr1:189091331-189091332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532767006	chr1:189091339-189091340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182451142	chr1:189091416-189091417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555989931	chr1:189091458-189091459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572728031	chr1:189091462-189091463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541690352	chr1:189091465-189091466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187775937	chr1:189091467-189091468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192453637	chr1:189091481-189091482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143638573	chr1:189091579-189091580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563395781	chr1:189091580-189091581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78876673	chr1:189091585-189091586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184848806	chr1:189091649-189091650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561524404	chr1:189091674-189091675	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189055000-189055600	Enhancers	Fetal Brain Male	brain
2	chr1:189091000-189092000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:189091200-189091800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:189098000-189102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:189106200-189110600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:189110400-189111000	ZNF genes & repeats	Pancreas	Pancrea
7	chr1:189110600-189111000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:189111000-189118800	Weak transcription	Pancreas	Pancrea
9	chr1:189115600-189116600	Enhancers	Brain Germinal Matrix	brain
10	chr1:189118400-189120000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:189118800-189119200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:189118800-189119200	Active TSS	Liver	Liver
13	chr1:189118800-189119200	Active TSS	Gastric	stomach
14	chr1:189118800-189119400	Active TSS	Duodenum Mucosa	Duodenum
15	chr1:189118800-189119400	Active TSS	Fetal Intestine Large	intestine
16	chr1:189118800-189119400	ZNF genes & repeats	Pancreas	Pancrea
17	chr1:189118800-189119400	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:189118800-189120200	Active TSS	A549	lung
19	chr1:189118800-189121800	Active TSS	K562	blood
20	chr1:189127200-189127600	Active TSS	K562	blood

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