Variant report

Variant	nsv818177
Chromosome Location	chr3:150541363-150566422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:397)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr3:150548259-150548325	GM12878	blood:	n/a	n/a
2	CEBPB	chr3:150545822-150546014	HepG2	liver:	n/a	chr3:150545926-150545939
3	CTCF	chr3:150558646-150558764	GM10248	blood:	n/a	n/a
4	CTCF	chr3:150558638-150558802	Fibrobl	skin:	n/a	n/a
5	CTCF	chr3:150548200-150548350	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr3:150547980-150548130	AG04450	lung:	n/a	n/a
7	CTCF	chr3:150548191-150548192	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr3:150558537-150558835	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr3:150548160-150548310	SAEC	small airway:	n/a	n/a
10	CTCF	chr3:150558700-150558850	HCT-116	colon:	n/a	n/a
11	CTCF	chr3:150548220-150548370	GM12868	blood:	n/a	n/a
12	CTCF	chr3:150548320-150548470	HMEC	breast:	n/a	n/a
13	CTCF	chr3:150548267-150548396	GM13976	blood:	n/a	n/a
14	CTCF	chr3:150548200-150548350	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr3:150547875-150548450	HepG2	liver:	n/a	n/a
16	CTCF	chr3:150558380-150558530	GM12871	blood:	n/a	n/a
17	CTCF	chr3:150558560-150558710	GM12870	blood:	n/a	n/a
18	CTCF	chr3:150548200-150548350	Caco-2	colon:	n/a	n/a
19	CTCF	chr3:150548240-150548390	GM12875	blood:	n/a	n/a
20	CTCF	chr3:150554908-150555010	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr3:150548021-150548410	HepG2	liver:	n/a	n/a
22	CTCF	chr3:150558620-150558770	GM12874	blood:	n/a	n/a
23	CTCF	chr3:150558600-150558750	GM12878	blood:	n/a	n/a
24	CTCF	chr3:150548028-150548170	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr3:150548192-150548387	GM12891	blood:	n/a	n/a
26	CTCF	chr3:150558620-150558770	NHEK	skin:	n/a	n/a
27	CTCF	chr3:150548609-150548691	GM12891	blood:	n/a	n/a
28	CTCF	chr3:150548220-150548370	HFF	foreskin:	n/a	n/a
29	CTCF	chr3:150558640-150558790	HAc	cerebellar:	n/a	n/a
30	CTCF	chr3:150558608-150558862	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:150548260-150548410	GM12801	blood:	n/a	n/a
32	CTCF	chr3:150558686-150558744	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chr3:150558620-150558770	GM06990	blood:	n/a	n/a
34	CTCF	chr3:150558620-150558770	NB4	blood:	n/a	n/a
35	CTCF	chr3:150547887-150548502	K562	blood:	n/a	n/a
36	CTCF	chr3:150548200-150548350	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr3:150548100-150548250	RPTEC	kidney:	n/a	n/a
38	CTCF	chr3:150548180-150548330	AG04450	lung:	n/a	n/a
39	CTCF	chr3:150548240-150548390	GM12864	blood:	n/a	n/a
40	CTCF	chr3:150548181-150548390	A549	lung:	n/a	n/a
41	CTCF	chr3:150558640-150558790	K562	blood:	n/a	n/a
42	CTCF	chr3:150548200-150548350	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr3:150548240-150548390	NB4	blood:	n/a	n/a
44	CTCF	chr3:150558600-150558750	HMEC	breast:	n/a	n/a
45	CTCF	chr3:150548260-150548410	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr3:150548220-150548383	Medullo	brain:	n/a	n/a
47	CTCF	chr3:150548187-150548395	GM12892	blood:	n/a	n/a
48	CTCF	chr3:150558640-150558790	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr3:150548240-150548390	HL-60	blood:	n/a	n/a
50	CTCF	chr3:150548220-150548370	GM06990	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:150491265..150491866-chr3:150562006..150562929,2	MCF-7	breast:
2	chr3:150454685..150455867-chr3:150561994..150563025,47	MCF-7	breast:
3	chr3:150558212..150561018-chr3:150563794..150565520,2	K562	blood:
4	chr3:150454735..150455867-chr3:150561994..150563025,23	MCF-7	breast:
5	chr3:150481412..150481942-chr3:150547893..150548575,2	MCF-7	breast:
6	chr3:150559675..150563415-chr3:150563767..150567112,4	MCF-7	breast:
7	chr3:150538551..150540745-chr3:150548721..150551004,2	K562	blood:
8	chr3:150543416..150546164-chr3:150546845..150550142,3	MCF-7	breast:
9	chr3:150482143..150484358-chr3:150560207..150562152,2	MCF-7	breast:
10	chr3:150558212..150561018-chr3:150563794..150565520,2	K562	blood:
11	chr3:150474254..150475011-chr3:150562123..150562938,2	MCF-7	breast:
12	chr3:150505371..150506271-chr3:150547846..150548717,3	MCF-7	breast:
13	chr3:150541380..150544869-chr3:150546390..150549285,4	K562	blood:
14	chr3:150440289..150441169-chr3:150562059..150562920,5	MCF-7	breast:
15	chr3:150562765..150565072-chr3:150568416..150571333,2	K562	blood:
16	chr3:150473969..150474942-chr3:150562035..150562940,4	MCF-7	breast:
17	chr3:150541085..150544869-chr3:150546390..150549285,4	K562	blood:
18	chr3:150420360..150421934-chr3:150546124..150547700,2	K562	blood:
19	chr3:150478771..150485219-chr3:150560533..150565602,8	MCF-7	breast:
20	chr3:150486959..150487925-chr3:150562003..150562943,2	MCF-7	breast:
21	chr3:150454689..150455809-chr3:150561872..150563110,20	MCF-7	breast:
22	chr3:150477899..150479806-chr3:150543969..150545499,2	K562	blood:
23	chr3:150541085..150544869-chr3:150546390..150549285,4	K562	blood:
24	chr3:150479519..150483153-chr3:150546715..150550415,4	MCF-7	breast:
25	chr3:150438730..150439462-chr3:150547692..150548621,3	K562	blood:
26	chr3:150473969..150474942-chr3:150562139..150562940,2	MCF-7	breast:
27	chr3:150543416..150546164-chr3:150546845..150550142,3	MCF-7	breast:
28	chr3:150505508..150506047-chr3:150546775..150547309,2	MCF-7	breast:
29	chr3:150541380..150544869-chr3:150546390..150549285,4	K562	blood:
30	chr3:150505249..150506046-chr3:150558739..150559240,2	MCF-7	breast:
31	chr3:150558644..150560982-chr3:150567716..150570216,2	MCF-7	breast:
32	chr3:150440299..150441134-chr3:150562057..150563139,6	MCF-7	breast:
33	chr3:150528388..150530970-chr3:150546164..150548935,2	K562	blood:
34	chr3:150455185..150457456-chr3:150562982..150565721,2	MCF-7	breast:
35	chr3:150548154..150548723-chr3:150582876..150583541,2	MCF-7	breast:
36	chr3:150479805..150481364-chr3:150556463..150558092,2	MCF-7	breast:
37	chr3:150559675..150563415-chr3:150563767..150567112,4	MCF-7	breast:
38	chr3:150480771..150484222-chr3:150546762..150549875,4	MCF-7	breast:
39	chr3:150558309..150558816-chr3:150582852..150583509,2	MCF-7	breast:

No data

Variant related genes	Relation type
CLRN1-AS1	TF binding region
ENSG00000181788	chromatin interactions
ENSG00000239265	chromatin interactions
ENSG00000240137	chromatin interactions
ENSG00000244265	chromatin interactions
ENSG00000163645	chromatin interactions

Extended variants
information (count: 923 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:923 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10935819	chr3:150541363-150541364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373917729	chr3:150541413-150541414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376890848	chr3:150541414-150541415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550169580	chr3:150541491-150541492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150535589	chr3:150541584-150541585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528893812	chr3:150541585-150541586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549131802	chr3:150541617-150541618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369956462	chr3:150541629-150541630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565756706	chr3:150541644-150541645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534674810	chr3:150541724-150541725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551566050	chr3:150541908-150541909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571314217	chr3:150541945-150541946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183053681	chr3:150541957-150541958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145768697	chr3:150541962-150541963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556971966	chr3:150542007-150542008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576421910	chr3:150542029-150542030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535443578	chr3:150542046-150542047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113923359	chr3:150542047-150542048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371251492	chr3:150542048-150542049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541093515	chr3:150542051-150542052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564714821	chr3:150542061-150542062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370692034	chr3:150542083-150542084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544144387	chr3:150542084-150542085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374103533	chr3:150542091-150542092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563820065	chr3:150542103-150542104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375649797	chr3:150542134-150542135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368634778	chr3:150542137-150542138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573649618	chr3:150542138-150542139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373601654	chr3:150542145-150542146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192670123	chr3:150542146-150542147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368067411	chr3:150542149-150542150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372153912	chr3:150542194-150542195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370639824	chr3:150542207-150542208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528201699	chr3:150542229-150542230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375002696	chr3:150542232-150542233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183735308	chr3:150542234-150542235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138684956	chr3:150542235-150542236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536842765	chr3:150542237-150542238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550887217	chr3:150542238-150542239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189570680	chr3:150542272-150542273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536114104	chr3:150542276-150542277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538893722	chr3:150542278-150542279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572070329	chr3:150542307-150542308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535124467	chr3:150542333-150542334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192407528	chr3:150542334-150542335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578155330	chr3:150542356-150542357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184748995	chr3:150542367-150542368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563875821	chr3:150542402-150542403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116721023	chr3:150542430-150542431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543300332	chr3:150542444-150542445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150540800-150541600	Enhancers	Fetal Lung	lung
2	chr3:150541000-150541400	Enhancers	Ovary	ovary
3	chr3:150541200-150541600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:150541400-150543400	Weak transcription	Ovary	ovary
5	chr3:150541600-150541800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:150541600-150543200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:150541800-150544000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:150542800-150544400	Enhancers	Right Ventricle	heart
9	chr3:150543000-150544600	Enhancers	Fetal Muscle Leg	muscle
10	chr3:150543200-150543600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:150543200-150543800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr3:150543200-150544200	Enhancers	Fetal Muscle Trunk	muscle
13	chr3:150543200-150544400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr3:150543200-150544600	Enhancers	Left Ventricle	heart
15	chr3:150543400-150543600	Enhancers	Ovary	ovary
16	chr3:150543600-150543800	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr3:150543600-150544000	Enhancers	Fetal Heart	heart
18	chr3:150543600-150544000	Weak transcription	Ovary	ovary
19	chr3:150543600-150544600	Enhancers	Right Atrium	heart
20	chr3:150543600-150546000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:150543800-150544000	Active TSS	Brain Anterior Caudate	brain
22	chr3:150544000-150544400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:150544000-150544400	Enhancers	Ovary	ovary
24	chr3:150544200-150544400	Enhancers	Spleen	Spleen
25	chr3:150544200-150544800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr3:150544400-150550400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:150544800-150545000	Enhancers	Fetal Muscle Trunk	muscle
28	chr3:150546000-150546600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:150546000-150547600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:150546200-150546600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:150546200-150547600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:150546400-150546600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:150546600-150547400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:150546800-150547000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr3:150547000-150548000	Enhancers	HepG2	liver
36	chr3:150547400-150548200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:150547400-150548200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr3:150548000-150548400	Flanking Active TSS	HepG2	liver
39	chr3:150550400-150550600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:150550600-150556200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:150556200-150556800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:150556400-150556600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr3:150556400-150556600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:150556600-150556800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
45	chr3:150556800-150558400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:150558400-150558600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
47	chr3:150558400-150558800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
48	chr3:150558400-150559200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:150558600-150558800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr3:150558600-150559000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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