Variant report

Variant	nsv1011771
Chromosome Location	chr3:162726432-162900102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:729)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:729 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr3:162774683-162774995	Hela-S3	cervix:	n/a	n/a
2	BRCA1	chr3:162774855-162774871	HepG2	liver:	n/a	n/a
3	CEBPB	chr3:162815303-162815572	A549	lung:	n/a	chr3:162815435-162815446
4	CEBPB	chr3:162893798-162893837	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr3:162815262-162815596	HepG2	liver:	n/a	chr3:162815435-162815446
6	CEBPB	chr3:162774590-162774941	A549	lung:	n/a	n/a
7	CEBPB	chr3:162729522-162729600	A549	lung:	n/a	n/a
8	CEBPB	chr3:162897199-162897419	A549	lung:	n/a	n/a
9	CEBPB	chr3:162789480-162789977	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr3:162774571-162774995	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr3:162729092-162729733	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr3:162729383-162729666	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr3:162773968-162774176	HepG2	liver:	n/a	chr3:162774022-162774033
14	CEBPB	chr3:162856075-162856324	MCF-7	breast:	n/a	n/a
15	CEBPB	chr3:162774594-162775003	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr3:162729220-162729874	MCF-7	breast:	n/a	n/a
17	CEBPB	chr3:162815287-162815558	IMR90	lung:	n/a	chr3:162815435-162815446
18	CEBPB	chr3:162815267-162815649	MCF-7	breast:	n/a	chr3:162815435-162815446
19	CEBPB	chr3:162774587-162774998	MCF-7	breast:	n/a	n/a
20	CEBPB	chr3:162729049-162729851	MCF-7	breast:	n/a	n/a
21	CTCF	chr3:162774800-162774950	GM12864	blood:	n/a	n/a
22	CTCF	chr3:162774707-162774928	A549	lung:	n/a	n/a
23	CTCF	chr3:162774775-162775033	ECC-1	luminal epithelium:	n/a	n/a
24	CTCF	chr3:162774160-162774310	GM12872	blood:	n/a	n/a
25	CTCF	chr3:162774780-162774930	HRE	kidney:	n/a	n/a
26	CTCF	chr3:162774780-162774930	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr3:162774820-162774970	HAc	cerebellar:	n/a	n/a
28	CTCF	chr3:162774780-162774930	HepG2	liver:	n/a	n/a
29	CTCF	chr3:162774780-162774930	HL-60	blood:	n/a	n/a
30	CTCF	chr3:162760999-162761138	GM12878	blood:	n/a	n/a
31	CTCF	chr3:162774780-162774930	NB4	blood:	n/a	n/a
32	CTCF	chr3:162760985-162761103	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr3:162843760-162843910	BE2_C	brain:	n/a	n/a
34	CTCF	chr3:162774780-162774930	AG04449	skin:	n/a	n/a
35	CTCF	chr3:162774770-162774939	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr3:162774788-162774907	GM19240	blood:	n/a	n/a
37	CTCF	chr3:162760983-162761127	A549	lung:	n/a	n/a
38	CTCF	chr3:162761019-162761118	GM13977	blood:	n/a	n/a
39	CTCF	chr3:162857527-162857550	MCF-7	breast:	n/a	n/a
40	CTCF	chr3:162760982-162761196	HepG2	liver:	n/a	n/a
41	CTCF	chr3:162760940-162761090	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr3:162774593-162775060	IMR90	lung:	n/a	n/a
43	CTCF	chr3:162774760-162774910	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr3:162760911-162761146	A549	lung:	n/a	n/a
45	CTCF	chr3:162761040-162761190	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr3:162761020-162761170	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr3:162760980-162761130	HMF	breast:	n/a	n/a
48	CTCF	chr3:162772308-162772397	MCF-7	breast:	n/a	n/a
49	CTCF	chr3:162774780-162774930	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr3:162761120-162761270	HRE	kidney:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162774576..162775267-chr3:162991199..162992106,3	MCF-7	breast:
2	chr3:162781747..162783965-chr3:162788037..162790015,2	MCF-7	breast:
3	chr3:162776529..162777484-chr3:163340191..163340771,2	MCF-7	breast:
4	chr3:162755966..162757761-chr3:162760804..162762764,2	MCF-7	breast:
5	chr3:162774415..162775478-chr3:163207241..163208645,5	MCF-7	breast:
6	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:
7	chr14:60627662..60628534-chr3:162740219..162740719,2	MCF-7	breast:
8	chr3:162821263..162822976-chr3:162826872..162828945,2	MCF-7	breast:
9	chr3:162730866..162732605-chr3:162732763..162734314,2	MCF-7	breast:
10	chr3:162755966..162757761-chr3:162760804..162762764,2	MCF-7	breast:
11	chr3:162754967..162757825-chr3:162758379..162760616,2	MCF-7	breast:
12	chr3:162468849..162471720-chr3:162897232..162899564,2	K562	blood:
13	chr3:162781747..162783965-chr3:162788037..162790015,2	MCF-7	breast:
14	chr3:162730866..162732605-chr3:162732763..162734314,2	MCF-7	breast:
15	chr2:174218936..174220527-chr3:162835384..162836884,2	K562	blood:
16	chr3:162829065..162831690-chr3:162831998..162834078,2	MCF-7	breast:
17	chr3:162754967..162757825-chr3:162758379..162760616,2	MCF-7	breast:
18	chr3:162821263..162822976-chr3:162826872..162828945,2	MCF-7	breast:
19	chr3:156892021..156894345-chr3:162787273..162789725,2	MCF-7	breast:
20	chr3:162003324..162004086-chr3:162760294..162761113,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SI-4	chr3:162845711-162845859	ENSG00000241369
2	lnc-OTOL1-2	chr3:162744184-162744286	ENSG00000241168.1
3	lnc-SI-4	chr3:162895031-162895889	ENSG00000241369
4	lnc-OTOL1-9	chr3:162833217-162833974	NONHSAT093027
5	lnc-OTOL1-2	chr3:162744184-162744286	NONHSAT093026
6	lnc-SI-4	chr3:162895689-162895889	ENSG00000241369

No data

Variant related genes	Relation type
ENSG00000244571	TF binding region
ENSG00000241168	TF binding region
ENSG00000238398	TF binding region
ENSG00000243176	chromatin interactions
ENSG00000144354	chromatin interactions
ENSG00000244571	chromatin interactions

Extended variants
information (count: 2558 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2558 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113319132	chr3:162735411-162735412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112618151	chr3:162735423-162735424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535994291	chr3:162735451-162735452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549058671	chr3:162735510-162735511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7642479	chr3:162735564-162735565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143773062	chr3:162735582-162735583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147456845	chr3:162735583-162735584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574674395	chr3:162735589-162735590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111367738	chr3:162735608-162735609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542142908	chr3:162735623-162735624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534698983	chr3:162735626-162735627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190024368	chr3:162735632-162735633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1586501	chr3:162735677-162735678	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs35786055	chr3:162735734-162735735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397719674	chr3:162735741-162735742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150805385	chr3:162735742-162735743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552977652	chr3:162735817-162735818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138299814	chr3:162735826-162735827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541767779	chr3:162735839-162735840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368266863	chr3:162735847-162735848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561768465	chr3:162735865-162735866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116486868	chr3:162735892-162735893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564506043	chr3:162735898-162735899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183140525	chr3:162735940-162735941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141872252	chr3:162735968-162735969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533710231	chr3:162735975-162735976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6548345	chr3:162735991-162735992	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560577468	chr3:162736029-162736030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529282658	chr3:162736050-162736051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548921897	chr3:162736073-162736074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114759495	chr3:162736132-162736133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531675097	chr3:162736162-162736163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550386895	chr3:162736163-162736164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570550162	chr3:162736186-162736187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529072896	chr3:162736200-162736201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139855687	chr3:162736210-162736211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186936984	chr3:162736213-162736214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149819960	chr3:162736241-162736242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566711426	chr3:162736248-162736249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535126006	chr3:162736315-162736316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539422197	chr3:162736358-162736359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2129836	chr3:162736382-162736383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs191778087	chr3:162736403-162736404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541848344	chr3:162736427-162736428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375872966	chr3:162736438-162736439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2129837	chr3:162736444-162736445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558437326	chr3:162736449-162736450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578105008	chr3:162736510-162736511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2129838	chr3:162736513-162736514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs146375733	chr3:162736531-162736532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162735400-162745200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:162735600-162736400	Enhancers	Fetal Heart	heart
3	chr3:162736600-162737400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:162741000-162765600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:162745200-162745600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr3:162745600-162746000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:162752200-162752800	Enhancers	Dnd41	blood
8	chr3:162752800-162753200	Weak transcription	Dnd41	blood
9	chr3:162753200-162753400	Enhancers	Dnd41	blood
10	chr3:162753400-162756000	Weak transcription	Dnd41	blood
11	chr3:162756000-162756800	Enhancers	Dnd41	blood
12	chr3:162756800-162757200	Weak transcription	Dnd41	blood
13	chr3:162757200-162758000	Enhancers	Dnd41	blood
14	chr3:162762000-162763200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:162762600-162763400	Enhancers	Adipose Nuclei	Adipose
16	chr3:162762600-162764000	Enhancers	Dnd41	blood
17	chr3:162764000-162764400	Flanking Active TSS	Dnd41	blood
18	chr3:162764400-162765000	Enhancers	Dnd41	blood
19	chr3:162765000-162769000	Weak transcription	Dnd41	blood
20	chr3:162765600-162766000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:162769000-162770200	Enhancers	Dnd41	blood
22	chr3:162771600-162772000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:162775000-162776400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:162775400-162775800	Enhancers	Colon Smooth Muscle	Colon
25	chr3:162775400-162776000	Enhancers	Stomach Smooth Muscle	stomach
26	chr3:162775600-162776200	Enhancers	Adipose Nuclei	Adipose
27	chr3:162775600-162776400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:162775600-162776600	Enhancers	Fetal Stomach	stomach
29	chr3:162775600-162776600	Enhancers	Rectal Smooth Muscle	rectum
30	chr3:162775800-162776200	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr3:162776000-162776200	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr3:162776000-162776400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:162776000-162776600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr3:162776000-162776600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr3:162776200-162776600	Enhancers	Fetal Lung	lung
36	chr3:162776200-162776600	Enhancers	Fetal Muscle Leg	muscle
37	chr3:162776200-162776600	Active TSS	Stomach Smooth Muscle	stomach
38	chr3:162776200-162776800	Enhancers	Colon Smooth Muscle	Colon
39	chr3:162776600-162777600	Weak transcription	Fetal Stomach	stomach
40	chr3:162777600-162777800	Enhancers	Fetal Stomach	stomach
41	chr3:162789000-162789600	Enhancers	Hela-S3	cervix
42	chr3:162789400-162789600	Weak transcription	Aorta	Aorta
43	chr3:162789400-162789800	Enhancers	Fetal Lung	lung
44	chr3:162789600-162789800	Enhancers	Aorta	Aorta
45	chr3:162789800-162790800	Weak transcription	Aorta	Aorta
46	chr3:162790600-162792200	ZNF genes & repeats	Dnd41	blood
47	chr3:162790800-162792000	ZNF genes & repeats	Aorta	Aorta
48	chr3:162791000-162792000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:162791200-162792000	ZNF genes & repeats	Spleen	Spleen
50	chr3:162791800-162792000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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