Variant report

Variant	nsv1013422
Chromosome Location	chr4:78226107-78255427
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	chr4:78230084-78230356	Hela-S3	cervix:	n/a	n/a
2	CBX3	chr4:78253883-78254139	K562	blood:	n/a	n/a
3	CBX3	chr4:78253824-78254202	K562	blood:	n/a	n/a
4	CBX3	chr4:78253746-78254319	HCT-116	colon:	n/a	n/a
5	CEBPB	chr4:78227010-78227248	Hela-S3	cervix:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
6	CEBPB	chr4:78226987-78227290	HepG2	liver:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
7	CEBPB	chr4:78226971-78227260	K562	blood:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
8	CEBPB	chr4:78226915-78227276	MCF-7	breast:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
9	CHD2	chr4:78254095-78254505	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr4:78230108-78230195	HepG2	liver:	n/a	n/a
11	CTCF	chr4:78230160-78230310	HMEC	breast:	n/a	n/a
12	CTCF	chr4:78230120-78230270	GM12873	blood:	n/a	n/a
13	CTCF	chr4:78229988-78230352	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr4:78230100-78230336	Gliobla	brain:	n/a	n/a
15	CTCF	chr4:78230111-78230317	LNCaP	prostate:	n/a	n/a
16	CTCF	chr4:78230160-78230310	HMF	breast:	n/a	n/a
17	CTCF	chr4:78227020-78227170	GM12801	blood:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
18	CTCF	chr4:78230078-78230338	GM12878	blood:	n/a	n/a
19	CTCF	chr4:78230200-78230350	GM12869	blood:	n/a	n/a
20	CTCF	chr4:78226980-78227130	MCF-7	breast:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
21	CTCF	chr4:78230126-78230318	GM10248	blood:	n/a	n/a
22	CTCF	chr4:78230091-78230321	LNCaP	prostate:	n/a	n/a
23	CTCF	chr4:78230200-78230350	NB4	blood:	n/a	n/a
24	CTCF	chr4:78230160-78230310	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr4:78230080-78230245	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr4:78230140-78230290	AG10803	skin:	n/a	n/a
27	CTCF	chr4:78230100-78230250	AG09309	skin:	n/a	n/a
28	CTCF	chr4:78230120-78230270	AG10803	skin:	n/a	n/a
29	CTCF	chr4:78230100-78230250	NHEK	skin:	n/a	n/a
30	CTCF	chr4:78230021-78230415	K562	blood:	n/a	n/a
31	CTCF	chr4:78227000-78227150	HMEC	breast:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
32	CTCF	chr4:78230160-78230310	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr4:78230180-78230330	MCF-7	breast:	n/a	n/a
34	CTCF	chr4:78230160-78230310	GM12868	blood:	n/a	n/a
35	CTCF	chr4:78226965-78227155	GM12878	blood:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
36	CTCF	chr4:78230120-78230270	GM12865	blood:	n/a	n/a
37	CTCF	chr4:78230083-78230334	MCF-7	breast:	n/a	n/a
38	CTCF	chr4:78226867-78227314	MCF-7	breast:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
39	CTCF	chr4:78230120-78230270	HPF	lung:	n/a	n/a
40	CTCF	chr4:78229986-78230389	HepG2	liver:	n/a	n/a
41	CTCF	chr4:78230180-78230330	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr4:78230080-78230230	K562	blood:	n/a	n/a
43	CTCF	chr4:78227040-78227190	GM12871	blood:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
44	CTCF	chr4:78226960-78227110	GM12871	blood:	n/a	n/a
45	CTCF	chr4:78229999-78230289	A549	lung:	n/a	n/a
46	CTCF	chr4:78230157-78230312	Fibrobl	skin:	n/a	n/a
47	CTCF	chr4:78230100-78230250	BE2_C	brain:	n/a	n/a
48	CTCF	chr4:78230120-78230270	GM12878	blood:	n/a	n/a
49	CTCF	chr4:78227140-78227290	HMEC	breast:	n/a	n/a
50	CTCF	chr4:78230140-78230290	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:78158067..78160012-chr4:78227264..78228770,2	MCF-7	breast:
2	chr4:78161188..78162532-chr4:78229476..78230856,15	MCF-7	breast:
3	chr4:78230184..78230702-chr4:78278364..78278865,2	MCF-7	breast:
4	chr4:78229797..78230625-chr4:78279333..78280102,3	MCF-7	breast:
5	chr4:78161284..78162458-chr4:78229777..78230742,7	K562	blood:
6	chr4:78236163..78238480-chr4:78287943..78289669,2	K562	blood:
7	chr4:78161398..78162211-chr4:78229720..78230660,3	MCF-7	breast:
8	chr4:78161311..78162711-chr4:78226629..78227614,14	MCF-7	breast:
9	chr4:78161416..78162110-chr4:78226527..78227315,3	MCF-7	breast:
10	chr4:78162165..78163774-chr4:78227168..78228953,2	MCF-7	breast:
11	chr4:78155252..78157365-chr4:78224145..78227144,3	MCF-7	breast:
12	chr4:78160754..78162321-chr4:78226906..78228617,2	MCF-7	breast:
13	chr4:77973179..77974099-chr4:78229775..78230650,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNI-5	chr4:78232550-78233264	NONHSAT097052

Variant related genes	Relation type
ENSG00000250006	TF binding region

Extended variants
information (count: 1457 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1457 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10012774	chr4:78226107-78226108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562006404	chr4:78226108-78226109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73827304	chr4:78226114-78226115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541201599	chr4:78226121-78226122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140592851	chr4:78226136-78226137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10012879	chr4:78226242-78226243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs193234221	chr4:78226243-78226244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562503407	chr4:78226254-78226255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10034292	chr4:78226266-78226267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs548215720	chr4:78226297-78226298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112598456	chr4:78226316-78226317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185697291	chr4:78226326-78226327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574095146	chr4:78226333-78226334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9991953	chr4:78226351-78226352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs547577519	chr4:78226383-78226384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114473593	chr4:78226392-78226393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539898167	chr4:78226398-78226399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10026741	chr4:78226415-78226416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150492706	chr4:78226418-78226419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535414338	chr4:78226433-78226434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10029024	chr4:78226488-78226489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572371778	chr4:78226516-78226517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543882233	chr4:78226546-78226547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145341391	chr4:78226573-78226574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142588021	chr4:78226644-78226645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4373184	chr4:78226650-78226651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs34631795	chr4:78226655-78226656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146468332	chr4:78226685-78226686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562402590	chr4:78226703-78226704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574540560	chr4:78226706-78226707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540177735	chr4:78226733-78226734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548179548	chr4:78226813-78226814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76373250	chr4:78226862-78226863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574746886	chr4:78226864-78226865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76947231	chr4:78226895-78226896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547400844	chr4:78226904-78226905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567322427	chr4:78226917-78226918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73827305	chr4:78227033-78227034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs375295400	chr4:78227048-78227049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539293510	chr4:78227095-78227096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560346769	chr4:78227144-78227145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139154276	chr4:78227159-78227160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570025148	chr4:78227187-78227188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12650240	chr4:78227226-78227227	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs188162146	chr4:78227260-78227261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34576808	chr4:78227308-78227309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12650208	chr4:78227309-78227310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs12647087	chr4:78227317-78227318	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191524017	chr4:78227322-78227323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543604799	chr4:78227343-78227344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78222600-78227400	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:78222800-78226600	Weak transcription	Stomach Mucosa	stomach
3	chr4:78222800-78226800	Weak transcription	Pancreas	Pancrea
4	chr4:78224800-78226800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:78226600-78227000	Enhancers	Stomach Mucosa	stomach
6	chr4:78226800-78227000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:78226800-78227800	Enhancers	Pancreas	Pancrea
8	chr4:78227400-78227800	Enhancers	Fetal Muscle Leg	muscle
9	chr4:78228200-78228600	Enhancers	HSMMtube	muscle
10	chr4:78228600-78231600	Weak transcription	HSMMtube	muscle
11	chr4:78230000-78230200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:78231600-78232800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:78231600-78232800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:78231600-78233000	Enhancers	HSMMtube	muscle
15	chr4:78231800-78233000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:78232000-78232600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:78232000-78233200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:78232200-78232400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:78232200-78232600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:78232200-78232800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:78233000-78233200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:78233200-78240600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:78240600-78241200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:78241200-78251400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:78252800-78254000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:78253400-78254800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr4:78255400-78256400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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