Variant report

Variant	nsv834485
Chromosome Location	chr2:185977613-186148482
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:36)
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	chr2:186088774..186091590-chr2:186093895..186096309,2	MCF-7	breast:
2	chr2:186072842..186073669-chr2:186603334..186604037,3	MCF-7	breast:
3	chr2:186002723..186005566-chr2:186026797..186028853,2	MCF-7	breast:
4	chr2:186093080..186095459-chr2:186142189..186144036,2	K562	blood:
5	chr2:186072741..186073624-chr2:186144398..186145591,5	MCF-7	breast:
6	chr2:186002723..186005566-chr2:186026797..186028853,2	MCF-7	breast:
7	chr2:186012354..186014269-chr2:186018641..186020756,2	K562	blood:
8	chr2:186077443..186080113-chr2:186084323..186086663,2	K562	blood:
9	chr2:186143515..186145768-chr2:186146038..186148779,2	K562	blood:
10	chr2:186012354..186014269-chr2:186018641..186020756,2	K562	blood:
11	chr2:186072660..186073262-chr2:186144866..186145404,2	MCF-7	breast:
12	chr2:186012894..186015403-chr2:186019945..186021689,2	MCF-7	breast:
13	chr2:186012894..186015403-chr2:186019945..186021689,2	MCF-7	breast:
14	chr2:186100441..186101971-chr2:186105375..186108257,2	K562	blood:
15	chr2:186072741..186073624-chr2:186144398..186145591,5	MCF-7	breast:
16	chr2:186069210..186070750-chr2:186136891..186138828,2	MCF-7	breast:
17	chr2:186143515..186145768-chr2:186146038..186148779,2	K562	blood:
18	chr2:186075062..186075812-chr2:186144515..186145151,2	MCF-7	breast:
19	chr2:186094342..186094913-chr2:186257717..186258552,2	MCF-7	breast:
20	chr2:186100441..186101971-chr2:186105375..186108257,2	K562	blood:
21	chr2:186077443..186080113-chr2:186084323..186086663,2	K562	blood:
22	chr2:186093080..186095459-chr2:186142189..186144036,2	K562	blood:
23	chr2:186069210..186070750-chr2:186136891..186138828,2	MCF-7	breast:
24	chr2:185990403..185991343-chr5:119236365..119236898,2	MCF-7	breast:
25	chr2:186072660..186073262-chr2:186144866..186145404,2	MCF-7	breast:
26	chr2:186075062..186075812-chr2:186144515..186145151,2	MCF-7	breast:
27	chr2:186088774..186091590-chr2:186093895..186096309,2	MCF-7	breast:

(count:36 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF804A-1	chr2:186061470-186061492	XLOC_001780
2	lnc-ZNF804A-1	chr2:186084381-186084458	XLOC_001780
3	lnc-ZSWIM2-7	chr2:186031578-186031663	XLOC_002424
4	lnc-ZNF804A-1	chr2:186031789-186031910	NONHSAT075957
5	lnc-ZNF804A-1	chr2:186031789-186031910	XLOC_001780
6	lnc-ZNF804A-1	chr2:186084780-186085106	XLOC_001780
7	lnc-ZNF804A-1	chr2:186031561-186031590	XLOC_001780
8	lnc-ZNF804A-1	chr2:186061344-186061492	XLOC_001780
9	lnc-ZSWIM2-7	chr2:186031578-186031663	XLOC_002424
10	lnc-ZNF804A-1	chr2:186061344-186061503	XLOC_001780
11	lnc-ZNF804A-1	chr2:186084381-186084458	XLOC_001780
12	lnc-ZNF804A-1	chr2:186084780-186085058	XLOC_001780
13	lnc-ZNF804A-1	chr2:186031776-186031910	XLOC_001780
14	lnc-ZNF804A-1	chr2:186031529-186031553	XLOC_001780
15	lnc-ZSWIM2-7	chr2:186031578-186031663	XLOC_002424
16	lnc-ZSWIM2-7	chr2:186031776-186031907	XLOC_002424
17	lnc-ZNF804A-1	chr2:186031533-186031553	NONHSAT075957
18	lnc-ZSWIM2-7	chr2:186031776-186031910	XLOC_002424
19	lnc-ZNF804A-1	chr2:186061344-186061492	XLOC_001780
20	lnc-ZNF804A-1	chr2:186084381-186084458	XLOC_001780
21	lnc-ZNF804A-1	chr2:186084381-186084458	XLOC_001780
22	lnc-ZNF804A-1	chr2:186084381-186084458	XLOC_001780
23	lnc-ZSWIM2-7	chr2:186031776-186031910	XLOC_002424
24	lnc-ZNF804A-1	chr2:186084381-186084653	XLOC_001780
25	lnc-ZNF804A-1	chr2:186084780-186085058	XLOC_001780
26	lnc-ZNF804A-1	chr2:186031789-186031910	XLOC_001780
27	lnc-ZNF804A-1	chr2:186031549-186031553	XLOC_001780
28	lnc-ZSWIM2-7	chr2:186029619-186029778	XLOC_002424
29	lnc-ZNF804A-1	chr2:186061344-186061631	NONHSAT075957
30	lnc-ZNF804A-1	chr2:186031789-186031910	XLOC_001780
31	lnc-ZNF804A-1	chr2:186031789-186031910	XLOC_001780
32	lnc-ZSWIM2-7	chr2:186001935-186002251	XLOC_002424
33	lnc-ZSWIM2-7	chr2:186030166-186030185	XLOC_002424
34	lnc-ZNF804A-1	chr2:186084780-186084990	XLOC_001780
35	lnc-ZNF804A-1	chr2:186031549-186031553	XLOC_001780
36	lnc-ZNF804A-1	chr2:186084780-186084990	XLOC_001780

No data

Variant related genes	Relation type
ENSG00000188738	chromatin interactions
ENSG00000226747	chromatin interactions
DNAJB1	miRNA target sites
RPS6KA5	miRNA target sites
USF2	miRNA target sites
CTSC	miRNA target sites
PAN3	miRNA target sites
SRPK2	miRNA target sites
PTPN1	miRNA target sites
KIF5A	miRNA target sites
CTSA	miRNA target sites
VBP1	miRNA target sites
KIT	miRNA target sites
TGFBR1	miRNA target sites
HMOX1	miRNA target sites
PALLD	miRNA target sites
KDELC1	miRNA target sites
RNF160	miRNA target sites

Extended variants
information (count: 1037 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374405783	chr2:185992012-185992013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531222558	chr2:185992057-185992058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560988645	chr2:185992070-185992071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531653619	chr2:185992078-185992079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549516033	chr2:185992089-185992090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564743523	chr2:185992116-185992117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532218476	chr2:185992154-185992155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547484948	chr2:185992182-185992183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370843340	chr2:185992199-185992200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117212028	chr2:185992219-185992220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536237745	chr2:185992237-185992238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548580575	chr2:185992283-185992284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79164939	chr2:185992417-185992418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77479463	chr2:185992418-185992419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570226383	chr2:185992428-185992429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187574396	chr2:185992438-185992439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552845300	chr2:185992463-185992464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4667014	chr2:185992567-185992568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550686655	chr2:185992593-185992594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370602999	chr2:185992609-185992610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150778377	chr2:185992610-185992611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535260657	chr2:185992611-185992612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199611263	chr2:185992660-185992661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548336831	chr2:185992661-185992662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551067180	chr2:185992673-185992674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367733945	chr2:185992674-185992675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75753555	chr2:185992687-185992688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553888573	chr2:185992731-185992732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs16826464	chr2:185992752-185992753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12991795	chr2:185992761-185992762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139290435	chr2:185992767-185992768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs16826466	chr2:185992771-185992772	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191855064	chr2:185992793-185992794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1483231	chr2:185992797-185992798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139195067	chr2:185993223-185993224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571195641	chr2:185993261-185993262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372108674	chr2:185993265-185993266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535193290	chr2:185993303-185993304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553624508	chr2:185993332-185993333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565589801	chr2:185993366-185993367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536353577	chr2:185993367-185993368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544722578	chr2:185993434-185993435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567192599	chr2:185993443-185993444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375429511	chr2:185993511-185993512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575988980	chr2:185993515-185993516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190295945	chr2:185993548-185993549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368792683	chr2:185993568-185993569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386653466	chr2:185993573-185993574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs61123504	chr2:185993574-185993575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182497796	chr2:185993608-185993609	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185992000-185992800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:185993200-185994600	Enhancers	Fetal Brain Male	brain
3	chr2:186009000-186009200	Enhancers	Ovary	ovary
4	chr2:186009000-186010600	Enhancers	Fetal Muscle Leg	muscle
5	chr2:186009200-186009400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:186009200-186009400	Enhancers	Fetal Muscle Trunk	muscle
7	chr2:186009200-186009800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:186009400-186009600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:186009800-186010200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:186010000-186010200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:186010000-186010400	Enhancers	Placenta	Placenta
12	chr2:186010200-186010600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:186010200-186010600	Enhancers	Gastric	stomach
14	chr2:186049400-186049800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:186049800-186050000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:186050000-186053200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:186053000-186053400	Enhancers	Fetal Kidney	kidney
18	chr2:186053200-186053400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:186063200-186063600	Enhancers	HSMM	muscle
20	chr2:186070800-186071000	Enhancers	Pancreas	Pancrea
21	chr2:186073000-186073400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:186080000-186080400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:186080200-186080400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:186083200-186085800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:186084000-186085200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:186084000-186085200	Enhancers	HSMM	muscle
27	chr2:186084200-186084600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:186084600-186085200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:186087200-186087400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:186105600-186106200	Enhancers	Fetal Brain Female	brain
31	chr2:186110600-186111000	Enhancers	Fetal Heart	heart
32	chr2:186119400-186121000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:186124200-186124400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:186124400-186129400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:186128400-186129200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:186129200-186129600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:186129400-186129600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
38	chr2:186129600-186130600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:186130200-186130800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr2:186130400-186132200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:186130600-186131000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:186130600-186131000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:186130600-186132000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:186130800-186131800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:186131000-186131800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:186131800-186132000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr2:186131800-186132000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:186138800-186139000	Enhancers	Pancreas	Pancrea
49	chr2:186139000-186144000	Weak transcription	Pancreas	Pancrea
50	chr2:186139400-186140000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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