Variant report

Variant	nsv875518
Chromosome Location	chr2:186047066-186239607
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:24)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:186077443..186080113-chr2:186084323..186086663,2	K562	blood:
2	chr2:186100441..186101971-chr2:186105375..186108257,2	K562	blood:
3	chr2:186072660..186073262-chr2:186144866..186145404,2	MCF-7	breast:
4	chr2:186182448..186185032-chr9:101737617..101739647,2	MCF-7	breast:
5	chr2:186072741..186073624-chr2:186144398..186145591,5	MCF-7	breast:
6	chr2:186075062..186075812-chr2:186144515..186145151,2	MCF-7	breast:
7	chr2:186072741..186073624-chr2:186144398..186145591,5	MCF-7	breast:
8	chr2:186155520..186156521-chr2:186603367..186604286,4	MCF-7	breast:
9	chr2:186088774..186091590-chr2:186093895..186096309,2	MCF-7	breast:
10	chr2:186094342..186094913-chr2:186257717..186258552,2	MCF-7	breast:
11	chr2:186143515..186145768-chr2:186146038..186148779,2	K562	blood:
12	chr2:186093080..186095459-chr2:186142189..186144036,2	K562	blood:
13	chr2:186072842..186073669-chr2:186603334..186604037,3	MCF-7	breast:
14	chr2:186088774..186091590-chr2:186093895..186096309,2	MCF-7	breast:
15	chr2:186165249..186167610-chr2:186167652..186170395,2	MCF-7	breast:
16	chr2:186100441..186101971-chr2:186105375..186108257,2	K562	blood:
17	chr2:186165249..186167610-chr2:186167652..186170395,2	MCF-7	breast:
18	chr2:186069210..186070750-chr2:186136891..186138828,2	MCF-7	breast:
19	chr2:186143515..186145768-chr2:186146038..186148779,2	K562	blood:
20	chr2:186093080..186095459-chr2:186142189..186144036,2	K562	blood:
21	chr2:186072660..186073262-chr2:186144866..186145404,2	MCF-7	breast:
22	chr2:186077443..186080113-chr2:186084323..186086663,2	K562	blood:
23	chr2:186075062..186075812-chr2:186144515..186145151,2	MCF-7	breast:
24	chr2:186069210..186070750-chr2:186136891..186138828,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF804A-1	chr2:186084381-186084653	XLOC_001780
2	lnc-ZNF804A-1	chr2:186084381-186084458	XLOC_001780
3	lnc-ZNF804A-1	chr2:186084381-186084458	XLOC_001780
4	lnc-ZNF804A-1	chr2:186084780-186085058	XLOC_001780
5	lnc-ZNF804A-1	chr2:186084780-186084990	XLOC_001780
6	lnc-ZNF804A-1	chr2:186061344-186061631	NONHSAT075957
7	lnc-ZNF804A-1	chr2:186084381-186084458	XLOC_001780
8	lnc-ZNF804A-1	chr2:186084780-186085058	XLOC_001780
9	lnc-ZNF804A-1	chr2:186061344-186061492	XLOC_001780
10	lnc-ZNF804A-1	chr2:186084780-186085106	XLOC_001780
11	lnc-ZNF804A-1	chr2:186061344-186061492	XLOC_001780
12	lnc-ZNF804A-1	chr2:186061344-186061503	XLOC_001780
13	lnc-ZNF804A-1	chr2:186061470-186061492	XLOC_001780
14	lnc-ZNF804A-1	chr2:186084381-186084458	XLOC_001780
15	lnc-ZNF804A-1	chr2:186084780-186084990	XLOC_001780
16	lnc-ZNF804A-1	chr2:186084381-186084458	XLOC_001780

No data

Variant related genes	Relation type
ENSG00000188738	chromatin interactions
ENSG00000226747	chromatin interactions
KIT	miRNA target sites
RPS6KA5	miRNA target sites
DNAJB1	miRNA target sites
PAN3	miRNA target sites
HMOX1	miRNA target sites
PALLD	miRNA target sites
RNF160	miRNA target sites
USF2	miRNA target sites

Extended variants
information (count: 1605 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1605 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78967611	chr2:186049411-186049412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570721742	chr2:186049430-186049431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145468708	chr2:186049439-186049440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555510389	chr2:186049593-186049594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141395179	chr2:186049598-186049599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565507246	chr2:186049609-186049610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536228626	chr2:186049665-186049666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554297821	chr2:186049678-186049679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369123258	chr2:186049698-186049699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573869662	chr2:186049707-186049708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs36038835	chr2:186049716-186049717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534858268	chr2:186049720-186049721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60466570	chr2:186049723-186049724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577131775	chr2:186049730-186049731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541130071	chr2:186049762-186049763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13007667	chr2:186049767-186049768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185778893	chr2:186049796-186049797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190218035	chr2:186049866-186049867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs147010889	chr2:186049875-186049876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs75306434	chr2:186049876-186049877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs531072119	chr2:186049895-186049896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs138238641	chr2:186049913-186049914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs530338706	chr2:186049917-186049918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs528701405	chr2:186049919-186049920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs546914399	chr2:186049959-186049960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs6724681	chr2:186049966-186049967	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs536008375	chr2:186049969-186049970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs548167135	chr2:186049977-186049978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs115426812	chr2:186050009-186050010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537313198	chr2:186050034-186050035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558906156	chr2:186050059-186050060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577242819	chr2:186050127-186050128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76108712	chr2:186050186-186050187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552935777	chr2:186050210-186050211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548918398	chr2:186050288-186050289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574869003	chr2:186050290-186050291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180848137	chr2:186050306-186050307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185065507	chr2:186050345-186050346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1483246	chr2:186050380-186050381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs149521758	chr2:186050476-186050477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573966388	chr2:186050523-186050524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190254213	chr2:186050525-186050526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564425603	chr2:186050552-186050553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73045271	chr2:186050569-186050570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540818859	chr2:186050589-186050590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117498955	chr2:186050657-186050658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529746744	chr2:186050734-186050735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528640801	chr2:186050852-186050853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371525020	chr2:186050889-186050890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62199974	chr2:186050913-186050914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186049400-186049800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:186049800-186050000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:186050000-186053200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:186053000-186053400	Enhancers	Fetal Kidney	kidney
5	chr2:186053200-186053400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:186063200-186063600	Enhancers	HSMM	muscle
7	chr2:186070800-186071000	Enhancers	Pancreas	Pancrea
8	chr2:186073000-186073400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:186080000-186080400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:186080200-186080400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:186083200-186085800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:186084000-186085200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:186084000-186085200	Enhancers	HSMM	muscle
14	chr2:186084200-186084600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:186084600-186085200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:186087200-186087400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:186105600-186106200	Enhancers	Fetal Brain Female	brain
18	chr2:186110600-186111000	Enhancers	Fetal Heart	heart
19	chr2:186119400-186121000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:186124200-186124400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:186124400-186129400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:186128400-186129200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:186129200-186129600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:186129400-186129600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
25	chr2:186129600-186130600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:186130200-186130800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr2:186130400-186132200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:186130600-186131000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:186130600-186131000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:186130600-186132000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:186130800-186131800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:186131000-186131800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:186131800-186132000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:186131800-186132000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:186138800-186139000	Enhancers	Pancreas	Pancrea
36	chr2:186139000-186144000	Weak transcription	Pancreas	Pancrea
37	chr2:186139400-186140000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:186139600-186140200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:186139800-186140200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:186139800-186140200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:186140600-186141000	Enhancers	Fetal Intestine Large	intestine
42	chr2:186140600-186141400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:186154200-186154600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:186154200-186155000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr2:186154400-186154600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:186154600-186154800	Active TSS	Placenta	Placenta
47	chr2:186154600-186155000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr2:186154600-186155000	Enhancers	Pancreas	Pancrea
49	chr2:186154600-186155000	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr2:186154600-186155400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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