Variant report

Variant	nsv879568
Chromosome Location	chr4:92244300-92429961
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	BACH1	chr4:92371141-92371176	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr4:92279590-92279870	GM12878	blood:	n/a	n/a
3	BATF	chr4:92280369-92280568	GM12878	blood:	n/a	n/a
4	BATF	chr4:92246684-92246980	GM12878	blood:	n/a	n/a
5	BATF	chr4:92279593-92279805	GM12878	blood:	n/a	n/a
6	BATF	chr4:92246616-92246958	GM12878	blood:	n/a	n/a
7	BCL11A	chr4:92279611-92279846	GM12878	blood:	n/a	n/a
8	BHLHE40	chr4:92294742-92295009	GM12878	blood:	n/a	n/a
9	BHLHE40	chr4:92264987-92264999	GM12878	blood:	n/a	n/a
10	CEBPB	chr4:92312781-92312966	A549	lung:	n/a	chr4:92312859-92312870
11	CEBPB	chr4:92395659-92395925	IMR90	lung:	n/a	chr4:92395784-92395795 chr4:92395783-92395796 chr4:92395782-92395799
12	CEBPB	chr4:92272250-92272485	K562	blood:	n/a	chr4:92272388-92272399 chr4:92272386-92272399 chr4:92272386-92272397 chr4:92272388-92272397
13	CEBPB	chr4:92297229-92297583	IMR90	lung:	n/a	chr4:92297393-92297404
14	CEBPB	chr4:92272267-92272556	HepG2	liver:	n/a	chr4:92272388-92272399 chr4:92272386-92272399 chr4:92272386-92272397 chr4:92272388-92272397
15	CEBPB	chr4:92260282-92260576	HepG2	liver:	n/a	chr4:92260436-92260447
16	CEBPB	chr4:92313543-92313708	H1-hESC	embryonic stem cell:	n/a	chr4:92313648-92313661 chr4:92313650-92313661 chr4:92313648-92313661 chr4:92313648-92313661 chr4:92313648-92313659
17	CEBPB	chr4:92327169-92327544	HepG2	liver:	n/a	chr4:92327334-92327345 chr4:92327332-92327343 chr4:92327332-92327345 chr4:92327371-92327384 chr4:92327334-92327345 chr4:92327332-92327345 chr4:92327371-92327382
18	CEBPB	chr4:92402711-92402722	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr4:92365377-92365619	A549	lung:	n/a	chr4:92365545-92365556
20	CEBPB	chr4:92272244-92272571	IMR90	lung:	n/a	chr4:92272388-92272399 chr4:92272386-92272399 chr4:92272386-92272397 chr4:92272388-92272397
21	CEBPB	chr4:92351080-92351167	HepG2	liver:	n/a	n/a
22	CEBPB	chr4:92395716-92395913	H1-hESC	embryonic stem cell:	n/a	chr4:92395784-92395795 chr4:92395783-92395796 chr4:92395782-92395799
23	CEBPB	chr4:92297294-92297549	A549	lung:	n/a	chr4:92297393-92297404
24	CEBPB	chr4:92371778-92371978	HepG2	liver:	n/a	chr4:92371862-92371873
25	CEBPB	chr4:92327182-92327522	A549	lung:	n/a	chr4:92327334-92327345 chr4:92327332-92327343 chr4:92327332-92327345 chr4:92327371-92327384 chr4:92327334-92327345 chr4:92327332-92327345 chr4:92327371-92327382
26	CEBPB	chr4:92395659-92395920	HepG2	liver:	n/a	chr4:92395784-92395795 chr4:92395783-92395796 chr4:92395782-92395799
27	CEBPB	chr4:92313557-92313782	HepG2	liver:	n/a	chr4:92313648-92313661 chr4:92313650-92313661 chr4:92313648-92313661 chr4:92313648-92313661 chr4:92313648-92313659
28	CEBPB	chr4:92312751-92312980	HepG2	liver:	n/a	chr4:92312859-92312870
29	CEBPB	chr4:92297357-92297424	H1-hESC	embryonic stem cell:	n/a	chr4:92297393-92297404
30	CEBPB	chr4:92327232-92327485	IMR90	lung:	n/a	chr4:92327334-92327345 chr4:92327332-92327343 chr4:92327332-92327345 chr4:92327371-92327384 chr4:92327334-92327345 chr4:92327332-92327345 chr4:92327371-92327382
31	CEBPB	chr4:92258443-92258660	HepG2	liver:	n/a	n/a
32	CEBPB	chr4:92365399-92365706	HepG2	liver:	n/a	chr4:92365545-92365556
33	CEBPB	chr4:92297222-92297557	HepG2	liver:	n/a	chr4:92297393-92297404
34	CHD2	chr4:92258506-92258507	GM12878	blood:	n/a	n/a
35	CTCF	chr4:92423660-92423810	GM12865	blood:	n/a	n/a
36	CTCF	chr4:92423620-92423770	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr4:92423640-92423790	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr4:92271120-92271270	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr4:92423686-92423765	GM19239	blood:	n/a	n/a
40	CTCF	chr4:92368468-92368664	GM12878	blood:	n/a	n/a
41	CTCF	chr4:92280494-92280526	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr4:92423560-92423710	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr4:92423632-92423830	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr4:92423621-92423816	MCF-7	breast:	n/a	n/a
45	CTCF	chr4:92409880-92410030	GM12878	blood:	n/a	n/a
46	CTCF	chr4:92423680-92423830	BE2_C	brain:	n/a	n/a
47	CTCF	chr4:92263350-92263410	Medullo	brain:	n/a	n/a
48	CTCF	chr4:92409820-92409970	GM12870	blood:	n/a	n/a
49	CTCF	chr4:92423580-92423730	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr4:92423620-92423770	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:92341986..92344370-chr4:92347861..92350317,2	MCF-7	breast:
2	chr4:92249209..92252138-chr4:92252795..92255607,2	MCF-7	breast:
3	chr4:92313682..92316029-chr4:92318721..92321306,2	MCF-7	breast:
4	chr4:92256031..92258951-chr4:92265643..92267671,2	MCF-7	breast:
5	chr17:56708841..56709425-chr4:92369580..92370294,2	Hela-S3	cervix:
6	chr4:92256031..92258951-chr4:92265643..92267671,2	MCF-7	breast:
7	chr12:30949150..30949851-chr4:92369989..92370606,2	Hela-S3	cervix:
8	chr4:92313682..92316029-chr4:92318721..92321306,2	MCF-7	breast:
9	chr4:92034306..92035417-chr4:92423226..92424074,5	MCF-7	breast:
10	chr4:92249209..92252138-chr4:92252795..92255607,2	MCF-7	breast:
11	chr4:92341986..92344370-chr4:92347861..92350317,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249049	TF binding region
ENSG00000212195	chromatin interactions

Extended variants
information (count: 836 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542271658	chr4:92246206-92246207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561957576	chr4:92246207-92246208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191533881	chr4:92246214-92246215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181224160	chr4:92246335-92246336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371255259	chr4:92246340-92246341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3762827	chr4:92246344-92246345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185335662	chr4:92246367-92246368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566683311	chr4:92246396-92246397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190590693	chr4:92246441-92246442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367597047	chr4:92246442-92246443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182726242	chr4:92246504-92246505	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs116294821	chr4:92246522-92246523	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs1528572	chr4:92246541-92246542	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs3762829	chr4:92246547-92246548	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs187800901	chr4:92246577-92246578	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs145771843	chr4:92246605-92246606	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs1528573	chr4:92246681-92246682	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1528574	chr4:92246693-92246694	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541639216	chr4:92246706-92246707	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs548396852	chr4:92246711-92246712	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs1528575	chr4:92246811-92246812	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191942507	chr4:92246821-92246822	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs116072522	chr4:92246884-92246885	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs35664066	chr4:92246897-92246898	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs564094223	chr4:92246967-92246968	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549463415	chr4:92246977-92246978	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs533455376	chr4:92246993-92246994	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs1528576	chr4:92247051-92247052	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1528577	chr4:92247095-92247096	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs140624423	chr4:92247119-92247120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs10718334	chr4:92247138-92247139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs1528578	chr4:92247173-92247174	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536420824	chr4:92247230-92247231	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs2178222	chr4:92247337-92247338	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145682148	chr4:92247357-92247358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs138256643	chr4:92247368-92247369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs552887465	chr4:92247369-92247370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs1969532	chr4:92247487-92247488	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539768488	chr4:92247537-92247538	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs376841461	chr4:92247542-92247543	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs142760661	chr4:92247607-92247608	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs143394817	chr4:92247615-92247616	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs148366250	chr4:92247623-92247624	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs183051338	chr4:92247647-92247648	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs575697279	chr4:92247652-92247653	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs537912458	chr4:92247684-92247685	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs187538648	chr4:92247746-92247747	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs577643092	chr4:92247761-92247762	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs192576588	chr4:92247796-92247797	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs141530041	chr4:92247797-92247798	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
lymphocytic leukemia	21291569	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
Chronic lymphocytic leukemia	18922857	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
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92246200-92246800	Enhancers	NH-A	brain
2	chr4:92246200-92247000	Enhancers	HUVEC	blood vessel
3	chr4:92247400-92248600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr4:92247800-92248800	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr4:92247800-92249200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:92248000-92248400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:92248000-92248400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr4:92248000-92248400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr4:92248000-92248600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:92248600-92249000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chr4:92251800-92252200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:92252000-92252400	Enhancers	NH-A	brain
13	chr4:92276400-92279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:92279800-92280200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:92279800-92280200	Enhancers	Pancreas	Pancrea
16	chr4:92279800-92281000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr4:92290000-92290600	Enhancers	Fetal Kidney	kidney
18	chr4:92303200-92303800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:92303200-92304000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr4:92326800-92327000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:92333600-92333800	ZNF genes & repeats	Pancreas	Pancrea
22	chr4:92348000-92348400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:92348000-92348600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:92348200-92348600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:92348200-92348600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:92348200-92348600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:92348200-92348800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:92348200-92348800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:92369800-92372000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:92370000-92370600	Enhancers	NH-A	brain
31	chr4:92370000-92370800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:92370000-92370800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:92370200-92370400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:92370200-92370600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:92370400-92371200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:92370400-92371600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:92370600-92375200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:92371200-92371400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:92371400-92375000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr4:92372000-92375000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:92373800-92374200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:92375000-92375400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:92375000-92375400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:92375000-92375400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:92375000-92375800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr4:92375200-92375600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:92408000-92408800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr4:92408200-92408600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr4:92408200-92408600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr4:92408200-92408800	Enhancers	HUES64 Cell Line	embryonic stem cell

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