Variant report

Variant	nsv877082
Chromosome Location	chr3:84320674-84570758
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	ARID3A	chr3:84359301-84359721	K562	blood:	n/a	n/a
2	ARID3A	chr3:84355882-84356927	K562	blood:	n/a	n/a
3	BHLHE40	chr3:84357564-84358045	K562	blood:	n/a	n/a
4	BHLHE40	chr3:84367720-84367757	K562	blood:	n/a	n/a
5	CCNT2	chr3:84359539-84360032	K562	blood:	n/a	n/a
6	CEBPB	chr3:84518301-84518506	HepG2	liver:	n/a	chr3:84518398-84518409
7	CEBPB	chr3:84401449-84401838	HepG2	liver:	n/a	chr3:84401594-84401605
8	CEBPB	chr3:84401416-84401835	A549	lung:	n/a	chr3:84401594-84401605
9	CEBPB	chr3:84493061-84493358	HepG2	liver:	n/a	chr3:84493298-84493309 chr3:84493187-84493198
10	CEBPB	chr3:84401444-84401867	IMR90	lung:	n/a	chr3:84401594-84401605
11	CEBPB	chr3:84401430-84401670	H1-hESC	embryonic stem cell:	n/a	chr3:84401594-84401605
12	CEBPB	chr3:84372480-84372733	K562	blood:	n/a	chr3:84372559-84372572 chr3:84372559-84372572 chr3:84372561-84372572 chr3:84372559-84372570 chr3:84372559-84372572
13	CEBPB	chr3:84435855-84436087	IMR90	lung:	n/a	chr3:84435985-84435998
14	CEBPB	chr3:84386224-84386245	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr3:84367531-84367839	K562	blood:	n/a	n/a
16	CEBPB	chr3:84424332-84424656	K562	blood:	n/a	chr3:84424511-84424522 chr3:84424475-84424486
17	CEBPB	chr3:84420372-84420654	HepG2	liver:	n/a	chr3:84420503-84420514
18	CEBPB	chr3:84424300-84424593	A549	lung:	n/a	chr3:84424511-84424522 chr3:84424475-84424486
19	CEBPB	chr3:84441522-84441865	IMR90	lung:	n/a	chr3:84441699-84441710 chr3:84441701-84441710 chr3:84441701-84441710
20	CEBPB	chr3:84441548-84441877	HepG2	liver:	n/a	chr3:84441699-84441710 chr3:84441701-84441710 chr3:84441701-84441710
21	CEBPB	chr3:84372399-84372707	HepG2	liver:	n/a	chr3:84372559-84372572 chr3:84372559-84372572 chr3:84372561-84372572 chr3:84372559-84372570 chr3:84372559-84372572
22	CEBPB	chr3:84401433-84401795	K562	blood:	n/a	chr3:84401594-84401605
23	CEBPB	chr3:84424343-84424540	H1-hESC	embryonic stem cell:	n/a	chr3:84424511-84424522 chr3:84424475-84424486
24	CEBPB	chr3:84424315-84424664	HepG2	liver:	n/a	chr3:84424511-84424522 chr3:84424475-84424486
25	CEBPB	chr3:84441546-84441860	A549	lung:	n/a	chr3:84441699-84441710 chr3:84441701-84441710 chr3:84441701-84441710
26	CEBPB	chr3:84424307-84424650	IMR90	lung:	n/a	chr3:84424511-84424522 chr3:84424475-84424486
27	CHD2	chr3:84365215-84367038	K562	blood:	n/a	n/a
28	CHD2	chr3:84367313-84367694	K562	blood:	n/a	n/a
29	CTCF	chr3:84367726-84367813	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr3:84367720-84367870	BE2_C	brain:	n/a	n/a
31	CTCF	chr3:84395548-84395602	LNCaP	prostate:	n/a	n/a
32	CTCF	chr3:84542998-84543132	GM13976	blood:	n/a	n/a
33	CTCF	chr3:84526493-84526531	LNCaP	prostate:	n/a	n/a
34	CTCF	chr3:84559349-84559406	MCF-7	breast:	n/a	n/a
35	CTCF	chr3:84559320-84559419	HepG2	liver:	n/a	n/a
36	CTCF	chr3:84559260-84559410	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr3:84559280-84559430	MCF-7	breast:	n/a	n/a
38	CTCF	chr3:84367748-84367832	GM12878	blood:	n/a	n/a
39	CTCF	chr3:84402580-84402595	GM20000	blood:	n/a	n/a
40	CTCF	chr3:84559260-84559410	MCF-7	breast:	n/a	n/a
41	CTCF	chr3:84367700-84367850	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr3:84478920-84479070	Caco-2	colon:	n/a	n/a
43	CTCF	chr3:84559280-84559430	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr3:84440123-84440219	Fibrobl	skin:	n/a	n/a
45	CTCF	chr3:84329020-84329170	BE2_C	brain:	n/a	n/a
46	CTCF	chr3:84411375-84411392	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr3:84488243-84488298	MCF-7	breast:	n/a	n/a
48	CTCF	chr3:84559300-84559450	BE2_C	brain:	n/a	n/a
49	CTCF	chr3:84367740-84367890	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr3:84367580-84367730	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:84417663..84419504-chr3:84428051..84430045,2	K562	blood:
2	chr3:84357730..84359734-chr3:84366154..84368442,2	K562	blood:
3	chr3:84361413..84364247-chr3:84367578..84369122,2	K562	blood:
4	chr3:84312486..84313370-chr3:84322396..84322940,2	K562	blood:
5	chr3:84417663..84419504-chr3:84428051..84430045,2	K562	blood:
6	chr3:84353604..84355835-chr3:84358362..84361257,3	K562	blood:
7	chr3:84366037..84367790-chr3:84378525..84380184,2	K562	blood:
8	chr3:84294925..84296767-chr3:84321826..84324650,2	K562	blood:
9	chr3:84317854..84319580-chr3:84322579..84324579,2	K562	blood:
10	chr3:84367002..84369596-chr3:84374915..84377162,2	K562	blood:
11	chr3:84494646..84496609-chr3:84500255..84502714,2	K562	blood:
12	chr3:84295391..84297544-chr3:84358043..84362398,3	K562	blood:
13	chr3:84356909..84360562-chr3:84364606..84368872,4	K562	blood:
14	chr3:84292652..84295673-chr3:84353499..84356092,3	K562	blood:
15	chr3:84367213..84368807-chr3:84372186..84374961,2	K562	blood:
16	chr3:84294165..84297747-chr3:84356381..84359543,4	K562	blood:
17	chr3:84291635..84294526-chr3:84360495..84362082,2	K562	blood:
18	chr3:84367213..84368807-chr3:84372186..84374961,2	K562	blood:
19	chr3:84357730..84359734-chr3:84366154..84368442,2	K562	blood:
20	chr3:84494646..84496609-chr3:84500255..84502714,2	K562	blood:
21	chr3:84435082..84438227-chr3:84442146..84444726,3	MCF-7	breast:
22	chr3:84353604..84355835-chr3:84358362..84361257,3	K562	blood:
23	chr3:84179427..84182289-chr3:84355686..84357544,2	K562	blood:
24	chr3:84435082..84438227-chr3:84442146..84444726,3	MCF-7	breast:
25	chr3:84292652..84296661-chr3:84352861..84356092,4	K562	blood:
26	chr3:84361413..84364247-chr3:84367578..84369122,2	K562	blood:
27	chr3:84318285..84321102-chr3:84329948..84332818,2	K562	blood:
28	chr3:84366037..84367790-chr3:84378525..84380184,2	K562	blood:
29	chr3:84367002..84369596-chr3:84374915..84377162,2	K562	blood:
30	chr3:84356909..84360562-chr3:84364606..84368872,4	K562	blood:
31	chr3:84295040..84297747-chr3:84356130..84357881,2	K562	blood:
32	chr3:84318285..84321102-chr3:84329948..84332818,2	K562	blood:

Variant related genes	Relation type
ENSG00000266652	TF binding region
ENSG00000221380	TF binding region

Extended variants
information (count: 1368 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1368 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191868820	chr3:84338010-84338011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528699813	chr3:84338018-84338019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569541626	chr3:84338041-84338042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529235052	chr3:84338076-84338077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536495419	chr3:84338081-84338082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555360973	chr3:84338108-84338109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542550384	chr3:84338214-84338215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372967131	chr3:84338238-84338239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559309608	chr3:84338305-84338306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534305776	chr3:84338309-84338310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552679798	chr3:84338345-84338346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183370424	chr3:84338380-84338381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532295668	chr3:84338411-84338412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551526287	chr3:84338412-84338413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544845483	chr3:84338417-84338418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563299854	chr3:84338493-84338494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575498706	chr3:84338520-84338521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200895929	chr3:84338528-84338529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146079393	chr3:84338557-84338558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138867536	chr3:84338575-84338576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs118159265	chr3:84338614-84338615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550394499	chr3:84338615-84338616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141412331	chr3:84338659-84338660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565418402	chr3:84338688-84338689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570139428	chr3:84338736-84338737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374461575	chr3:84338781-84338782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569322295	chr3:84338785-84338786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199701444	chr3:84339452-84339453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs5850636	chr3:84339453-84339454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs546191222	chr3:84339467-84339468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs148861417	chr3:84341010-84341011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553893864	chr3:84341023-84341024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117637447	chr3:84341045-84341046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566065887	chr3:84341113-84341114	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs545996338	chr3:84341235-84341236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564293138	chr3:84341237-84341238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576683798	chr3:84341265-84341266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181477133	chr3:84341272-84341273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562226856	chr3:84341292-84341293	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs185082993	chr3:84341302-84341303	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs541845824	chr3:84341321-84341322	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs142503392	chr3:84341375-84341376	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs367616887	chr3:84341485-84341486	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs190364452	chr3:84341504-84341505	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs552407079	chr3:84341549-84341550	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs150938096	chr3:84341560-84341561	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs56662038	chr3:84341587-84341588	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550084834	chr3:84341597-84341598	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs77324822	chr3:84341612-84341613	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs539429938	chr3:84342397-84342398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84338000-84338800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:84341000-84341600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:84350800-84351200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:84353000-84360000	Active TSS	K562	blood
5	chr3:84391600-84391800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:84396400-84397000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr3:84396800-84397200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:84396800-84397200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:84397000-84397800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:84436400-84437400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:84436600-84437000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:84484000-84485000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:84484400-84485000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:84484400-84485200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:84484600-84485000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:84484600-84485000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:84484800-84485200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:84485000-84488800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:84485000-84493000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:84485200-84488600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:84488600-84493000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:84488800-84493600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:84489400-84489800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:84489800-84490800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:84490800-84491000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:84491600-84492600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr3:84492800-84494000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:84493000-84493200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:84493600-84494600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:84494800-84495000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:84510800-84511200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr3:84525800-84526400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:84536400-84537200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:84537200-84538400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:84538400-84538600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr3:84538400-84538800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:84538400-84538800	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr3:84538600-84538800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:84538800-84539000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr3:84541400-84541800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:84547600-84547800	Enhancers	HSMM	muscle
42	chr3:84547600-84548000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr3:84547800-84548200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:84553600-84554400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:84553800-84554200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr3:84558200-84562600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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