Variant report

Variant	nsv548407
Chromosome Location	chr1:186875459-186951429
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:27)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:186817347..186820172-chr1:186930546..186933374,2	K562	blood:
2	chr1:186344989..186347809-chr1:186910086..186912699,2	K562	blood:
3	chr1:186875951..186877958-chr1:186882459..186884107,2	K562	blood:
4	chr1:186885856..186886495-chr1:186954730..186955449,3	MCF-7	breast:
5	chr1:186912240..186914453-chr1:186917746..186919567,2	MCF-7	breast:
6	chr1:186917685..186920424-chr1:186928901..186931796,2	K562	blood:
7	chr1:186923105..186924782-chr1:186925954..186927593,2	MCF-7	breast:
8	chr1:186941928..186943905-chr1:186949380..186952269,2	K562	blood:
9	chr1:186926978..186929684-chr1:186930971..186933125,2	K562	blood:
10	chr1:186893385..186896236-chr1:186910828..186913667,2	K562	blood:
11	chr1:186875951..186877958-chr1:186882459..186884107,2	K562	blood:
12	chr1:186920663..186923137-chr1:186923959..186925953,2	K562	blood:
13	chr1:186912240..186914453-chr1:186917746..186919567,2	MCF-7	breast:
14	chr1:186911005..186913664-chr1:186917899..186920016,2	K562	blood:
15	chr1:186923105..186924782-chr1:186925954..186927593,2	MCF-7	breast:
16	chr1:186893385..186896236-chr1:186910828..186913667,2	K562	blood:
17	chr1:186926978..186929684-chr1:186930971..186933125,2	K562	blood:
18	chr1:186574674..186575283-chr1:186946255..186947085,2	MCF-7	breast:
19	chr1:186911265..186913664-chr1:186917899..186920017,2	K562	blood:
20	chr1:186917685..186920424-chr1:186928901..186931796,2	K562	blood:
21	chr1:186950582..186953267-chr1:186955218..186957826,2	K562	blood:
22	chr1:186911265..186913664-chr1:186917899..186920017,2	K562	blood:
23	chr1:186920663..186923137-chr1:186923959..186925953,2	K562	blood:
24	chr1:186911005..186913664-chr1:186917899..186920016,2	K562	blood:
25	chr1:186907740..186910387-chr1:186916449..186918122,3	MCF-7	breast:
26	chr1:186907740..186910387-chr1:186916449..186918122,3	MCF-7	breast:
27	chr1:186941928..186943905-chr1:186949380..186952269,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTGS2-2	chr1:186946565-186946634	NONHSAT008453
2	lnc-PTGS2-2	chr1:186941377-186942039	NONHSAT008453

No data

Variant related genes	Relation type
ENSG00000157181	chromatin interactions

Extended variants
information (count: 2822 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2822 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10798069	chr1:186875459-186875460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575342114	chr1:186875484-186875485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12720544	chr1:186875489-186875490	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12720545	chr1:186875490-186875491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546574765	chr1:186875511-186875512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529592664	chr1:186875552-186875553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547668975	chr1:186875553-186875554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12720546	chr1:186875568-186875569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189113181	chr1:186875573-186875574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374195526	chr1:186875604-186875605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12720547	chr1:186875641-186875642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114137186	chr1:186875657-186875658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537013933	chr1:186875700-186875701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549368304	chr1:186875744-186875745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535192067	chr1:186875764-186875765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567403095	chr1:186875796-186875797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112968927	chr1:186875836-186875837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534966137	chr1:186875932-186875933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552884630	chr1:186875944-186875945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138823667	chr1:186875960-186875961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538717770	chr1:186875979-186875980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182501171	chr1:186875981-186875982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575417302	chr1:186875986-186875987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375283585	chr1:186876023-186876024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186510188	chr1:186876051-186876052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560983833	chr1:186876068-186876069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557066015	chr1:186876077-186876078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201239760	chr1:186876106-186876107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373613129	chr1:186876127-186876128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377128551	chr1:186876143-186876144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370545499	chr1:186876144-186876145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541743186	chr1:186876171-186876172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554296188	chr1:186876204-186876205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575727317	chr1:186876206-186876207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559669290	chr1:186876240-186876241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12720548	chr1:186876305-186876306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551575777	chr1:186876311-186876312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12720549	chr1:186876361-186876362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190904127	chr1:186876396-186876397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183072019	chr1:186876464-186876465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12720550	chr1:186876503-186876504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534600482	chr1:186876527-186876528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546904029	chr1:186876542-186876543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571589384	chr1:186876572-186876573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142941570	chr1:186876601-186876602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185919821	chr1:186876612-186876613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568969087	chr1:186876615-186876616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12720551	chr1:186876670-186876671	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376225762	chr1:186876673-186876674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139491875	chr1:186876674-186876675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:715 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186839200-186884800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:186854000-186897200	Weak transcription	Lung	lung
3	chr1:186854400-186880000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:186864600-186897000	Weak transcription	Esophagus	oesophagus
5	chr1:186866200-186880800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:186866200-186881000	Weak transcription	Adipose Nuclei	Adipose
7	chr1:186866200-186883200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:186866200-186885000	Weak transcription	HUVEC	blood vessel
9	chr1:186866400-186880200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:186866400-186880800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:186866400-186883000	Weak transcription	A549	lung
12	chr1:186868800-186897000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:186869000-186896600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:186871000-186884600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:186871400-186904000	Weak transcription	Hela-S3	cervix
16	chr1:186871600-186880200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:186871800-186880200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:186873600-186879800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:186873600-186881000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:186873600-186881200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:186873800-186880000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:186873800-186880200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:186873800-186880400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:186873800-186896800	Weak transcription	Small Intestine	intestine
25	chr1:186874000-186876400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:186874000-186880200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:186874000-186880200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:186874800-186876000	Enhancers	Colon Smooth Muscle	Colon
29	chr1:186875400-186875800	Enhancers	Fetal Stomach	stomach
30	chr1:186875600-186875800	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:186875800-186880800	Weak transcription	Fetal Stomach	stomach
32	chr1:186875800-186881000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:186876000-186880200	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:186876400-186877000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:186877000-186886000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:186878600-186895000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:186878800-186888600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:186879000-186880800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:186879200-186888400	Weak transcription	Spleen	Spleen
40	chr1:186879800-186881800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr1:186880000-186880200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:186880000-186880400	Enhancers	Fetal Intestine Small	intestine
43	chr1:186880000-186888800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr1:186880200-186880400	Enhancers	Aorta	Aorta
45	chr1:186880200-186880400	Enhancers	Fetal Intestine Large	intestine
46	chr1:186880200-186880400	Enhancers	Left Ventricle	heart
47	chr1:186880200-186880600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:186880200-186880600	Enhancers	Fetal Lung	lung
49	chr1:186880200-186881600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr1:186880200-186881600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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