Variant report

Variant	nsv1003977
Chromosome Location	chr1:186993913-187032623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:187006070..187008027-chr1:187010351..187012013,2	K562	blood:
2	chr1:187005737..187008049-chr1:187009924..187012532,2	MCF-7	breast:
3	chr1:187025654..187027194-chr1:187032073..187033921,2	K562	blood:
4	chr1:187021138..187025717-chr1:187026456..187031273,4	MCF-7	breast:
5	chr1:187001862..187004386-chr1:187006153..187009407,3	MCF-7	breast:
6	chr1:187005250..187005918-chr1:187350647..187351375,2	MCF-7	breast:
7	chr1:187029912..187031611-chr1:187032319..187034461,2	K562	blood:
8	chr1:187029599..187032219-chr1:187038739..187042577,4	K562	blood:
9	chr1:187020457..187021378-chr1:187072454..187072961,2	MCF-7	breast:
10	chr1:187029912..187031611-chr1:187032319..187034461,2	K562	blood:
11	chr1:186984649..186986416-chr1:187005406..187007945,2	MCF-7	breast:
12	chr1:187025654..187027194-chr1:187032073..187033921,2	K562	blood:
13	chr1:187006070..187008027-chr1:187010351..187012013,2	K562	blood:
14	chr1:187001862..187004386-chr1:187006153..187009407,3	MCF-7	breast:
15	chr1:187025789..187027854-chr1:187039505..187041153,2	K562	blood:
16	chr1:186990263..186993045-chr1:186994227..186995920,2	K562	blood:
17	chr1:186980190..186980765-chr1:187011337..187012327,2	MCF-7	breast:
18	chr1:187020635..187021433-chr2:223555025..223555692,2	MCF-7	breast:
19	chr1:187005737..187008049-chr1:187009924..187012532,2	MCF-7	breast:
20	chr1:187021138..187025717-chr1:187026456..187031273,4	MCF-7	breast:
21	chr1:186966027..186968242-chr1:187011720..187014303,2	MCF-7	breast:
22	chr1:186964784..186969238-chr1:187005238..187008679,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTGS2-3	chr1:186996425-186996453	NONHSAT008454

No data

Extended variants
information (count: 1130 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1130 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562104677	chr1:186996440-186996441	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs140066252	chr1:186996443-186996444	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs549238512	chr1:186996444-186996445	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs533808254	chr1:186997283-186997284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs558830260	chr1:186997322-186997323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs376621005	chr1:186997324-186997325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs141474591	chr1:186997464-186997465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190876114	chr1:186997475-186997476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs574232734	chr1:186997482-186997483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs149568747	chr1:186997484-186997485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs541420670	chr1:186997490-186997491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs554157467	chr1:186997531-186997532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs572015674	chr1:186997536-186997537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs540533264	chr1:186997554-186997555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565592188	chr1:186997582-186997583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs532573012	chr1:186997595-186997596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs10911987	chr1:186997600-186997601	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs183024838	chr1:186997665-186997666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs530174486	chr1:186997672-186997673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs12076871	chr1:186997677-186997678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs548713193	chr1:186997712-186997713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs146925143	chr1:186997730-186997731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs527706703	chr1:186997744-186997745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs529068778	chr1:186997762-186997763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs550431938	chr1:186997766-186997767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs570759713	chr1:186997790-186997791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs537639881	chr1:186997811-186997812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs555985439	chr1:186997816-186997817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs567917670	chr1:186997821-186997822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573436433	chr1:186997824-186997825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs568813167	chr1:186997862-186997863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs553845562	chr1:186997863-186997864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs137875744	chr1:186997880-186997881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs371729492	chr1:186997931-186997932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs76689472	chr1:186997935-186997936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs558969339	chr1:186997959-186997960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs577514882	chr1:186997966-186997967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112415904	chr1:186997974-186997975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs78981219	chr1:186997981-186997982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs553223081	chr1:187001011-187001012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533800325	chr1:187001033-187001034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545327219	chr1:187001107-187001108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181015611	chr1:187001113-187001114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575524483	chr1:187001126-187001127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542716523	chr1:187001150-187001151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58597476	chr1:187001203-187001204	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs12024676	chr1:187001236-187001237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1884021	chr1:187001256-187001257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559990836	chr1:187001266-187001267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557336406	chr1:187001349-187001350	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	19197363	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186997200-186998000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr1:187001000-187009000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:187001600-187005600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:187001800-187003200	Enhancers	HUVEC	blood vessel
5	chr1:187001800-187004000	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:187001800-187004400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:187002000-187003400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr1:187002600-187003000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:187004000-187007200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:187004400-187007200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:187005600-187007200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:187005800-187006400	Enhancers	Liver	Liver
13	chr1:187007200-187008600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:187007200-187008800	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:187007200-187009000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:187007400-187008800	Enhancers	Hela-S3	cervix
17	chr1:187007800-187008400	Enhancers	HMEC	breast
18	chr1:187008000-187008600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:187008000-187008600	Enhancers	NHEK	skin
20	chr1:187008000-187008800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:187008400-187009000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr1:187009000-187011200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:187011200-187012800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr1:187013800-187018200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:187014600-187015400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:187014600-187015800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:187014600-187016200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:187014800-187016000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:187014800-187016400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr1:187015400-187015600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:187015400-187015600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:187015400-187015800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr1:187015400-187015800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr1:187015600-187016400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:187015800-187016200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:187015800-187016200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:187015800-187016200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr1:187015800-187016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:187015800-187016800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr1:187015800-187016800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:187015800-187017400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:187016000-187016200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr1:187016200-187016400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr1:187016200-187016400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr1:187016200-187016600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:187016200-187016600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr1:187016200-187017000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:187016200-187017200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:187016200-187017400	Enhancers	H9 Cell Line	embryonic stem cell
50	chr1:187016400-187016800	Enhancers	HUES48 Cell Line	embryonic stem cell

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