Variant report

Variant	nsv1007133
Chromosome Location	chr4:96556072-96614235
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	BRCA1	chr4:96603085-96603089	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr4:96560210-96560732	HepG2	liver:	n/a	chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560342 chr4:96560331-96560340 chr4:96560555-96560566 chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560340
3	CEBPB	chr4:96560136-96560732	ECC-1	luminal epithelium:	n/a	chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560342 chr4:96560331-96560340 chr4:96560555-96560566 chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560340
4	CEBPB	chr4:96560311-96560737	H1-hESC	embryonic stem cell:	n/a	chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560342 chr4:96560331-96560340 chr4:96560555-96560566 chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560340
5	CEBPB	chr4:96560285-96560783	MCF-7	breast:	n/a	chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560342 chr4:96560331-96560340 chr4:96560555-96560566 chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560340
6	CEBPB	chr4:96560401-96560681	K562	blood:	n/a	chr4:96560555-96560566
7	CEBPB	chr4:96578513-96578622	A549	lung:	n/a	n/a
8	CEBPB	chr4:96560276-96560665	A549	lung:	n/a	chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560342 chr4:96560331-96560340 chr4:96560555-96560566 chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560340
9	CEBPB	chr4:96560127-96560815	ECC-1	luminal epithelium:	n/a	chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560342 chr4:96560331-96560340 chr4:96560555-96560566 chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560340
10	CEBPB	chr4:96597411-96597724	HepG2	liver:	n/a	chr4:96597565-96597576
11	CEBPB	chr4:96560232-96560743	A549	lung:	n/a	chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560342 chr4:96560331-96560340 chr4:96560555-96560566 chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560340
12	CEBPB	chr4:96597434-96597706	A549	lung:	n/a	chr4:96597565-96597576
13	CEBPB	chr4:96597442-96597710	IMR90	lung:	n/a	chr4:96597565-96597576
14	CEBPB	chr4:96560136-96560766	Hela-S3	cervix:	n/a	chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560342 chr4:96560331-96560340 chr4:96560555-96560566 chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560340
15	CEBPB	chr4:96560260-96560742	IMR90	lung:	n/a	chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560342 chr4:96560331-96560340 chr4:96560555-96560566 chr4:96560329-96560342 chr4:96560331-96560340 chr4:96560331-96560340
16	CEBPB	chr4:96578583-96578682	HepG2	liver:	n/a	n/a
17	CEBPB	chr4:96597442-96597596	H1-hESC	embryonic stem cell:	n/a	chr4:96597565-96597576
18	CTCF	chr4:96558280-96558430	SK-N-SH_RA	brain:	n/a	chr4:96558374-96558387
19	CTCF	chr4:96558046-96558595	SK-N-SH	brain:	n/a	chr4:96558374-96558387
20	CTCF	chr4:96558340-96558490	HA-sp	spinal cord:	n/a	chr4:96558374-96558387
21	CTCF	chr4:96558290-96558437	IMR90	lung:	n/a	chr4:96558374-96558387
22	CTCF	chr4:96558300-96558450	NHEK	skin:	n/a	chr4:96558374-96558387
23	CTCF	chr4:96558320-96558470	HPF	lung:	n/a	chr4:96558374-96558387
24	CTCF	chr4:96558280-96558430	HEEpiC	esophagus:	n/a	chr4:96558374-96558387
25	CTCF	chr4:96558340-96558490	GM12873	blood:	n/a	chr4:96558374-96558387
26	CTCF	chr4:96558340-96558490	AoAF	blood vessel:	n/a	chr4:96558374-96558387
27	CTCF	chr4:96558300-96558450	HCFaa	heart:	n/a	chr4:96558374-96558387
28	CTCF	chr4:96558320-96558470	HCPEpiC	choroid plexus:	n/a	chr4:96558374-96558387
29	CTCF	chr4:96558329-96558408	Hela-S3	cervix:	n/a	chr4:96558374-96558387
30	CTCF	chr4:96558320-96558470	HVMF	connective:	n/a	chr4:96558374-96558387
31	CTCF	chr4:96558260-96558410	NHEK	skin:	n/a	chr4:96558374-96558387
32	CTCF	chr4:96558280-96558430	HRPEpiC	eye:	n/a	chr4:96558374-96558387
33	CTCF	chr4:96558240-96558390	HAc	cerebellar:	n/a	chr4:96558374-96558387
34	CTCF	chr4:96558320-96558470	HCT-116	colon:	n/a	chr4:96558374-96558387
35	CTCF	chr4:96558260-96558410	A549	lung:	n/a	chr4:96558374-96558387
36	CTCF	chr4:96558280-96558430	HEK293	kidney:	n/a	chr4:96558374-96558387
37	CTCF	chr4:96583464-96583563	Lung_OC	lung:	n/a	n/a
38	CTCF	chr4:96558300-96558450	SK-N-SH_RA	brain:	n/a	chr4:96558374-96558387
39	CTCF	chr4:96558298-96558457	Pancreas_OC	pancreas:	n/a	chr4:96558374-96558387
40	CTCF	chr4:96558280-96558430	Caco-2	colon:	n/a	chr4:96558374-96558387
41	CTCF	chr4:96558215-96558564	H1-hESC	embryonic stem cell:	n/a	chr4:96558374-96558387
42	CTCF	chr4:96558237-96558467	H1-hESC	embryonic stem cell:	n/a	chr4:96558374-96558387
43	CTCF	chr4:96558300-96558450	AG04450	lung:	n/a	chr4:96558374-96558387
44	CTCF	chr4:96558308-96558390	Kidney_OC	kidney:	n/a	chr4:96558374-96558387
45	CTCF	chr4:96558288-96558465	HepG2	liver:	n/a	chr4:96558374-96558387
46	CTCF	chr4:96558240-96558390	HVMF	connective:	n/a	chr4:96558374-96558387
47	CTCF	chr4:96558340-96558490	MCF-7	breast:	n/a	chr4:96558374-96558387
48	CTCF	chr4:96558380-96558530	HMEC	breast:	n/a	n/a
49	CTCF	chr4:96558320-96558470	K562	blood:	n/a	chr4:96558374-96558387
50	CTCF	chr4:96558300-96558450	RPTEC	kidney:	n/a	chr4:96558374-96558387

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:96557966..96558741-chr4:97273098..97274003,3	MCF-7	breast:
2	chr1:149223221..149225022-chr4:96577789..96580768,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC5C-2	chr4:96566103-96566444	NONHSAT097463

Variant related genes	Relation type
RPL30P6	TF binding region
ENSG00000206737	chromatin interactions

Extended variants
information (count: 1160 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552490709	chr4:96556077-96556078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144407562	chr4:96556091-96556092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535740976	chr4:96556128-96556129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34523614	chr4:96556135-96556136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562841029	chr4:96556138-96556139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531786112	chr4:96556192-96556193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551611614	chr4:96556325-96556326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571434310	chr4:96556372-96556373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183231143	chr4:96556402-96556403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534102509	chr4:96556452-96556453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73839739	chr4:96556466-96556467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74374292	chr4:96556467-96556468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79733322	chr4:96556490-96556491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373482294	chr4:96556524-96556525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187179390	chr4:96556543-96556544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556270047	chr4:96556576-96556577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74577166	chr4:96556593-96556594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576057272	chr4:96556616-96556617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7681706	chr4:96556658-96556659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557943918	chr4:96556671-96556672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535240526	chr4:96556690-96556691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191648783	chr4:96556743-96556744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140699621	chr4:96556775-96556776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553849685	chr4:96556778-96556779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182319788	chr4:96556812-96556813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574029560	chr4:96556813-96556814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7682279	chr4:96556855-96556856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs138714976	chr4:96556859-96556860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34021407	chr4:96556864-96556865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371918899	chr4:96556865-96556866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142838378	chr4:96556866-96556867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75762377	chr4:96556867-96556868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377460564	chr4:96556883-96556884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182193394	chr4:96556905-96556906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116631151	chr4:96556937-96556938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576852893	chr4:96556965-96556966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527466687	chr4:96556969-96556970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545845881	chr4:96557030-96557031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556480874	chr4:96557035-96557036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547752323	chr4:96557087-96557088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192223318	chr4:96557097-96557098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536499746	chr4:96557113-96557114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549518439	chr4:96557148-96557149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185750400	chr4:96557165-96557166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73839740	chr4:96557172-96557173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11930177	chr4:96557215-96557216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538367380	chr4:96557246-96557247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1436590	chr4:96557247-96557248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571551780	chr4:96557303-96557304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534125220	chr4:96557305-96557306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96550400-96560000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:96557800-96558200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr4:96557800-96558600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:96557800-96558600	Enhancers	Brain Substantia Nigra	brain
5	chr4:96558000-96558200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:96558000-96558400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:96558000-96558600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:96558000-96558600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:96558000-96558600	Enhancers	Fetal Stomach	stomach
10	chr4:96558200-96558400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:96558200-96558600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:96558200-96558600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:96558200-96558600	Enhancers	Brain Anterior Caudate	brain
14	chr4:96558200-96558600	Enhancers	Brain Cingulate Gyrus	brain
15	chr4:96558200-96561600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:96558400-96558600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:96558400-96558600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr4:96558400-96558600	Enhancers	HMEC	breast
19	chr4:96558400-96561800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:96558600-96559600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:96558600-96559800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:96558600-96559800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:96558600-96560000	Weak transcription	Brain Substantia Nigra	brain
24	chr4:96558600-96560200	Weak transcription	Brain Anterior Caudate	brain
25	chr4:96558600-96560200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr4:96558600-96560400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:96558600-96561600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:96558600-96561800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:96558600-96561800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:96558600-96561800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:96558800-96560000	Weak transcription	HMEC	breast
32	chr4:96559200-96559800	Enhancers	Dnd41	blood
33	chr4:96559600-96560000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:96559600-96560000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr4:96559600-96560400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr4:96559800-96560000	Active TSS	Brain Hippocampus Middle	brain
37	chr4:96559800-96560600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:96559800-96561000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr4:96559800-96561000	Enhancers	Brain Cingulate Gyrus	brain
40	chr4:96559800-96561600	Flanking Active TSS	Dnd41	blood
41	chr4:96559800-96562200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:96559800-96562400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:96560000-96560200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr4:96560000-96560400	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr4:96560000-96560400	Active TSS	Brain Substantia Nigra	brain
46	chr4:96560000-96560600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:96560000-96560600	Enhancers	HMEC	breast
48	chr4:96560000-96560800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:96560000-96560800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr4:96560000-96562600	Enhancers	Cortex derived primary cultured neurospheres	brain

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