Variant report

Variant	nsv1003484
Chromosome Location	chr2:186524793-186591557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:186586784-186586978	K562	blood:	n/a	n/a
2	BHLHE40	chr2:186591465-186591564	HepG2	liver:	n/a	n/a
3	CBX3	chr2:186554778-186555281	HCT-116	colon:	n/a	n/a
4	CBX3	chr2:186554740-186555339	HCT-116	colon:	n/a	n/a
5	CEBPB	chr2:186544754-186544870	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr2:186533482-186533800	HepG2	liver:	n/a	chr2:186533645-186533656
7	CEBPB	chr2:186533467-186533798	Hela-S3	cervix:	n/a	chr2:186533645-186533656
8	CEBPB	chr2:186535082-186535227	HepG2	liver:	n/a	chr2:186535119-186535130
9	CEBPB	chr2:186587425-186587627	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:186533543-186533809	IMR90	lung:	n/a	chr2:186533645-186533656
11	CEBPB	chr2:186533508-186533786	H1-hESC	embryonic stem cell:	n/a	chr2:186533645-186533656
12	CEBPB	chr2:186530680-186530902	HepG2	liver:	n/a	chr2:186530798-186530809
13	CEBPB	chr2:186533506-186533791	A549	lung:	n/a	chr2:186533645-186533656
14	CHD2	chr2:186562832-186562938	HepG2	liver:	n/a	n/a
15	CTCF	chr2:186540980-186541130	NHEK	skin:	n/a	n/a
16	CTCF	chr2:186541120-186541270	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr2:186541100-186541250	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr2:186583180-186583330	RPTEC	kidney:	n/a	n/a
19	CTCF	chr2:186541120-186541270	MCF-7	breast:	n/a	n/a
20	CTCF	chr2:186541000-186541150	GM12867	blood:	n/a	n/a
21	CTCF	chr2:186574380-186574530	GM12872	blood:	n/a	n/a
22	CTCF	chr2:186541020-186541170	HMEC	breast:	n/a	n/a
23	CTCF	chr2:186545920-186546070	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr2:186541295-186541321	ProgFib	skin:	n/a	n/a
25	CTCF	chr2:186541040-186541190	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr2:186556280-186556430	HRE	kidney:	n/a	n/a
27	CTCF	chr2:186541060-186541210	HMEC	breast:	n/a	n/a
28	CTCF	chr2:186541080-186541230	Caco-2	colon:	n/a	n/a
29	CTCF	chr2:186570540-186570690	GM12870	blood:	n/a	n/a
30	CTCF	chr2:186541180-186541330	NHEK	skin:	n/a	n/a
31	CTCF	chr2:186541160-186541310	GM12867	blood:	n/a	n/a
32	E2F4	chr2:186554661-186554803	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr2:186570595-186570601	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr2:186541269-186541424	MCF10A-Er-Src	breast:	n/a	n/a
35	EP300	chr2:186533496-186533855	Hela-S3	cervix:	n/a	n/a
36	FAM48A	chr2:186525635-186525688	GM12878	blood:	n/a	n/a
37	FOS	chr2:186583509-186583722	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr2:186574868-186575091	MCF10A-Er-Src	breast:	n/a	chr2:186575039-186575048 chr2:186575040-186575049 chr2:186575040-186575047 chr2:186575040-186575048
39	FOS	chr2:186541228-186541341	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr2:186574911-186575128	MCF10A-Er-Src	breast:	n/a	chr2:186575039-186575048 chr2:186575040-186575049 chr2:186575040-186575047 chr2:186575040-186575048
41	FOS	chr2:186541136-186541289	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr2:186574927-186575148	MCF10A-Er-Src	breast:	n/a	chr2:186575039-186575048 chr2:186575040-186575049 chr2:186575040-186575047 chr2:186575040-186575048
43	FOS	chr2:186540290-186540506	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr2:186554571-186555255	MCF10A-Er-Src	breast:	n/a	chr2:186555064-186555075
45	FOS	chr2:186554712-186555222	MCF10A-Er-Src	breast:	n/a	chr2:186555064-186555075
46	FOS	chr2:186544756-186544922	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr2:186574858-186575149	MCF10A-Er-Src	breast:	n/a	chr2:186575039-186575048 chr2:186575040-186575049 chr2:186575040-186575047 chr2:186575040-186575048
48	FOS	chr2:186541229-186541426	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr2:186554928-186555225	HUVEC	blood vessel:	n/a	chr2:186555064-186555075
50	FOS	chr2:186544774-186544895	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:186540633..186542551-chr2:186567883..186570534,2	MCF-7	breast:
2	chr2:186532536..186534671-chr2:186536499..186538385,2	K562	blood:
3	chr2:186588408..186592015-chr2:186593924..186596626,4	K562	blood:
4	chr2:186540633..186542551-chr2:186567883..186570534,2	MCF-7	breast:
5	chr2:186532536..186534671-chr2:186536499..186538385,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-6	chr2:186584601-186585447	NR_110215
2	lnc-ZSWIM2-6	chr2:186584601-186585447	NR_110214
3	lnc-ZSWIM2-6	chr2:186584601-186585447	ENSG00000226747
4	lnc-ZSWIM2-6	chr2:186584601-186585447	NR_110216
5	lnc-ZSWIM2-6	chr2:186584939-186585447	ENSG00000226747
6	lnc-ZSWIM2-6	chr2:186584601-186585447	NR_110217

Variant related genes	Relation type
ENSG00000212581	TF binding region

Extended variants
information (count: 1279 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1279 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576497132	chr2:186524861-186524862	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs554718609	chr2:186524908-186524909	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs576392236	chr2:186524995-186524996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs377208611	chr2:186525012-186525013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs543417347	chr2:186525055-186525056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs565261142	chr2:186525130-186525131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs532701995	chr2:186525154-186525155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs373121057	chr2:186525640-186525641	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs377354096	chr2:186525657-186525658	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370368266	chr2:186525664-186525665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs562936981	chr2:186530239-186530240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533387455	chr2:186530276-186530277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149259198	chr2:186530331-186530332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560486991	chr2:186530339-186530340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528034725	chr2:186530357-186530358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372788280	chr2:186530361-186530362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144507687	chr2:186530369-186530370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148393972	chr2:186530382-186530383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531769376	chr2:186530390-186530391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550664250	chr2:186530391-186530392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568581636	chr2:186530402-186530403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576478507	chr2:186530407-186530408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539123835	chr2:186530424-186530425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557364974	chr2:186530448-186530449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566120746	chr2:186530452-186530453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200235193	chr2:186530475-186530476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142502227	chr2:186530476-186530477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543969923	chr2:186530628-186530629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187800310	chr2:186530697-186530698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35739689	chr2:186530744-186530745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573796713	chr2:186530746-186530747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544050674	chr2:186530755-186530756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573981138	chr2:186530757-186530758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556373265	chr2:186530786-186530787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145948292	chr2:186530789-186530790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139970071	chr2:186530818-186530819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72892067	chr2:186530864-186530865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs371099280	chr2:186530913-186530914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375880075	chr2:186530984-186530985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143524697	chr2:186531003-186531004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543312129	chr2:186531020-186531021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561386544	chr2:186531021-186531022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531952189	chr2:186531027-186531028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549988757	chr2:186531126-186531127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146712984	chr2:186531158-186531159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62199093	chr2:186531182-186531183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56183756	chr2:186531184-186531185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551057933	chr2:186531207-186531208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551893015	chr2:186531231-186531232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533521186	chr2:186531285-186531286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186530200-186530400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:186530400-186533200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:186533000-186533600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:186533200-186533800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:186533200-186534200	Enhancers	Dnd41	blood
6	chr2:186533400-186533600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:186533400-186533600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:186533600-186537600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:186536400-186536800	Enhancers	Fetal Heart	heart
10	chr2:186537600-186537800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:186541000-186541400	Enhancers	HMEC	breast
12	chr2:186543200-186544000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:186544200-186545000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:186545000-186545800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:186545800-186546000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:186551200-186551600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:186552600-186552800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:186552800-186553000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:186552800-186553000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:186553000-186553800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:186554000-186555400	Enhancers	HMEC	breast
22	chr2:186554400-186555400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:186554400-186555400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:186554600-186555600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:186554800-186555400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:186554800-186555400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:186565600-186566000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:186565600-186566200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:186565600-186603200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:186570000-186570400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr2:186574400-186574600	Enhancers	Brain Germinal Matrix	brain
32	chr2:186574400-186574600	Enhancers	Left Ventricle	heart
33	chr2:186574800-186575800	Weak transcription	Brain Germinal Matrix	brain
34	chr2:186575800-186576200	Enhancers	Brain Germinal Matrix	brain
35	chr2:186581600-186582000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:186582000-186583200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:186583400-186583600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:186588800-186589000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:186591000-186591600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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