Variant report

Variant	nsv584026
Chromosome Location	chr2:186851224-186944663
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:13)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:186905396..186906984-chr2:186927102..186929134,2	K562	blood:
2	chr2:186851763..186854059-chr2:186854208..186855953,2	MCF-7	breast:
3	chr2:186913950..186916894-chr2:186919637..186921761,2	K562	blood:
4	chr2:186861297..186864828-chr2:186866334..186869154,3	K562	blood:
5	chr2:186882755..186884529-chr2:186886544..186888768,2	K562	blood:
6	chr2:186905396..186906984-chr2:186927102..186929134,2	K562	blood:
7	chr2:186913950..186916894-chr2:186919637..186921761,2	K562	blood:
8	chr2:186943617..186946004-chr2:186946269..186949362,3	K562	blood:
9	chr2:186851763..186854059-chr2:186854208..186855953,2	MCF-7	breast:
10	chr17:57913762..57915412-chr2:186861621..186864023,2	MCF-7	breast:
11	chr2:186861297..186864828-chr2:186866334..186869154,3	K562	blood:
12	chr2:186882755..186884529-chr2:186886544..186888768,2	K562	blood:
13	chr2:186898326..186901023-chr2:187349730..187351831,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-3	chr2:186897623-186897908	NONHSAT075981
2	lnc-ZSWIM2-3	chr2:186898261-186898529	NR_110218
3	lnc-ZSWIM2-3	chr2:186904227-186904282	NONHSAT075981
4	lnc-FSIP2-4	chr2:186923254-186923714	NONHSAT075984
5	lnc-ZSWIM2-3	chr2:186897618-186898529	ENSG00000237877.2
6	lnc-ZSWIM2-3	chr2:186898258-186898529	ENSG00000237877
7	lnc-ZSWIM2-3	chr2:186904227-186904282	NR_110218
8	lnc-ZSWIM2-3	chr2:186903058-186903159	ENSG00000237877
9	lnc-ZSWIM2-3	chr2:186898222-186898531	NONHSAT075981
10	lnc-FSIP2-4	chr2:186932840-186933840	NONHSAT075984
11	lnc-ZSWIM2-3	chr2:186904227-186904282	ENSG00000237877
12	lnc-ZSWIM2-3	chr2:186903058-186903162	NONHSAT075981
13	lnc-ZSWIM2-3	chr2:186897872-186898529	ENSG00000237877
14	lnc-ZSWIM2-3	chr2:186903058-186903162	NR_110218

No data

Variant related genes	Relation type
ENSG00000237877	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000065548	chromatin interactions

Extended variants
information (count: 2510 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:2510 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7601385	chr2:186851224-186851225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560803247	chr2:186851233-186851234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575929072	chr2:186851335-186851336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543364286	chr2:186851339-186851340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543352597	chr2:186851395-186851396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182224041	chr2:186851410-186851411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552801356	chr2:186851417-186851418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184920334	chr2:186851452-186851453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559200234	chr2:186851469-186851470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573852055	chr2:186851483-186851484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530265583	chr2:186851492-186851493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369732615	chr2:186851511-186851512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541457867	chr2:186851544-186851545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559768922	chr2:186851575-186851576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552932074	chr2:186851609-186851610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570830765	chr2:186851737-186851738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147103530	chr2:186851756-186851757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369071022	chr2:186851818-186851819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566317883	chr2:186851874-186851875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534722294	chr2:186852026-186852027	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs553392599	chr2:186852091-186852092	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs139906662	chr2:186852138-186852139	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535992450	chr2:186852152-186852153	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs373248111	chr2:186852194-186852195	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs575869091	chr2:186852205-186852206	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs535321479	chr2:186852210-186852211	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs13410615	chr2:186852213-186852214	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190169143	chr2:186852237-186852238	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs540671288	chr2:186852263-186852264	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182436305	chr2:186852315-186852316	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs16827364	chr2:186852316-186852317	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs141794173	chr2:186852378-186852379	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs188483504	chr2:186852399-186852400	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs531150564	chr2:186852428-186852429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552868772	chr2:186852463-186852464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561208304	chr2:186852579-186852580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114920264	chr2:186852611-186852612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571066848	chr2:186852658-186852659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533493769	chr2:186852740-186852741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146330545	chr2:186852799-186852800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546675520	chr2:186852845-186852846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568482979	chr2:186852913-186852914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs16827365	chr2:186852931-186852932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545490994	chr2:186852963-186852964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193076264	chr2:186852970-186852971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373147630	chr2:186853005-186853006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76036843	chr2:186853010-186853011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377452605	chr2:186853028-186853029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13425817	chr2:186853033-186853034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs13022014	chr2:186853063-186853064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:50)

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
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
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
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186828400-186857400	Weak transcription	Aorta	Aorta
2	chr2:186828800-186867400	Weak transcription	Ovary	ovary
3	chr2:186844600-186852000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:186845200-186867400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:186852000-186852400	Active TSS	Muscle Satellite Cultured Cells	--
6	chr2:186852400-186855600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:186853600-186854000	Enhancers	HepG2	liver
8	chr2:186854000-186855600	Weak transcription	HepG2	liver
9	chr2:186854200-186855800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:186854600-186867200	Weak transcription	Left Ventricle	heart
11	chr2:186854800-186857200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:186854800-186857400	Weak transcription	Liver	Liver
13	chr2:186855000-186857600	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:186855400-186856000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:186855400-186857600	Weak transcription	Fetal Brain Male	brain
16	chr2:186855600-186856200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:186855600-186856200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:186855600-186856400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:186855600-186856400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:186855600-186856400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:186855600-186856400	Enhancers	HepG2	liver
22	chr2:186855800-186856400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:186855800-186856600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr2:186855800-186856600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:186856000-186856200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:186856000-186856400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:186856000-186856400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:186856200-186856800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr2:186856200-186857000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:186856600-186867600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:186856800-186868800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:186857600-186858000	Active TSS	Fetal Brain Male	brain
33	chr2:186867400-186867600	ZNF genes & repeats	Ovary	ovary
34	chr2:186867400-186867800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:186867600-186868200	Weak transcription	Ovary	ovary
36	chr2:186867800-186870200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:186868600-186873800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:186870600-186871200	Weak transcription	Left Ventricle	heart
39	chr2:186871200-186871400	ZNF genes & repeats	Left Ventricle	heart
40	chr2:186871200-186871600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:186871600-186871800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:186871800-186875800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:186873400-186874600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:186873600-186874600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:186873600-186875000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:186873800-186874000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr2:186873800-186874000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr2:186873800-186874200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:186874000-186874400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr2:186874000-186874400	ZNF genes & repeats	Aorta	Aorta

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