Variant report

Variant	nsv1003935
Chromosome Location	chr4:78181108-78255427
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	chr4:78253824-78254202	K562	blood:	n/a	n/a
3	CBX3	chr4:78253883-78254139	K562	blood:	n/a	n/a
4	CBX3	chr4:78253746-78254319	HCT-116	colon:	n/a	n/a
5	CEBPB	chr4:78226987-78227290	HepG2	liver:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
6	CEBPB	chr4:78215400-78215689	HepG2	liver:	n/a	chr4:78215544-78215555
7	CEBPB	chr4:78215392-78215580	K562	blood:	n/a	chr4:78215544-78215555
8	CEBPB	chr4:78227010-78227248	Hela-S3	cervix:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
9	CEBPB	chr4:78226971-78227260	K562	blood:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
10	CEBPB	chr4:78215423-78215638	IMR90	lung:	n/a	chr4:78215544-78215555
11	CEBPB	chr4:78226915-78227276	MCF-7	breast:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
12	CHD2	chr4:78254095-78254505	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr4:78230108-78230195	HepG2	liver:	n/a	n/a
14	CTCF	chr4:78230120-78230270	AG09319	gingival:	n/a	n/a
15	CTCF	chr4:78230140-78230290	NHEK	skin:	n/a	n/a
16	CTCF	chr4:78230180-78230330	MCF-7	breast:	n/a	n/a
17	CTCF	chr4:78230160-78230310	HCT-116	colon:	n/a	n/a
18	CTCF	chr4:78230160-78230310	GM12871	blood:	n/a	n/a
19	CTCF	chr4:78230106-78230306	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr4:78230102-78230339	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr4:78230100-78230250	AG04450	lung:	n/a	n/a
22	CTCF	chr4:78230096-78230325	GM13977	blood:	n/a	n/a
23	CTCF	chr4:78230119-78230307	GM10266	blood:	n/a	n/a
24	CTCF	chr4:78230120-78230270	HepG2	liver:	n/a	n/a
25	CTCF	chr4:78230140-78230290	AG10803	skin:	n/a	n/a
26	CTCF	chr4:78230120-78230270	BE2_C	brain:	n/a	n/a
27	CTCF	chr4:78230200-78230350	HCM	heart:	n/a	n/a
28	CTCF	chr4:78230160-78230310	HAc	cerebellar:	n/a	n/a
29	CTCF	chr4:78217678-78217736	LNCaP	prostate:	n/a	n/a
30	CTCF	chr4:78230144-78230308	NHEK	skin:	n/a	n/a
31	CTCF	chr4:78230029-78230389	IMR90	lung:	n/a	n/a
32	CTCF	chr4:78188194-78188260	NHEK	skin:	n/a	n/a
33	CTCF	chr4:78230120-78230270	GM12868	blood:	n/a	n/a
34	CTCF	chr4:78227100-78227250	GM12864	blood:	n/a	chr4:78227101-78227119 chr4:78227103-78227116
35	CTCF	chr4:78230140-78230290	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr4:78197303-78197420	K562	blood:	n/a	n/a
37	CTCF	chr4:78230220-78230370	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr4:78230173-78230299	A549	lung:	n/a	n/a
39	CTCF	chr4:78230160-78230310	GM12875	blood:	n/a	n/a
40	CTCF	chr4:78227000-78227150	HMEC	breast:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
41	CTCF	chr4:78230080-78230245	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr4:78230035-78230349	A549	lung:	n/a	n/a
43	CTCF	chr4:78230220-78230370	HCT-116	colon:	n/a	n/a
44	CTCF	chr4:78230120-78230270	GM12871	blood:	n/a	n/a
45	CTCF	chr4:78226867-78227314	MCF-7	breast:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
46	CTCF	chr4:78227044-78227166	NHEK	skin:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
47	CTCF	chr4:78230120-78230270	NHDF-neo	bronchial:	n/a	n/a
48	CTCF	chr4:78230120-78230270	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr4:78206420-78206570	HPF	lung:	n/a	n/a
50	CTCF	chr4:78230580-78230730	HCM	heart:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:78162165..78163774-chr4:78227168..78228953,2	MCF-7	breast:
2	chr4:78236163..78238480-chr4:78287943..78289669,2	K562	blood:
3	chr4:78229797..78230625-chr4:78279333..78280102,3	MCF-7	breast:
4	chr4:77973179..77974099-chr4:78229775..78230650,3	K562	blood:
5	chr4:78177354..78179710-chr4:78180664..78183643,2	MCF-7	breast:
6	chr4:78161398..78162211-chr4:78229720..78230660,3	MCF-7	breast:
7	chr4:78158067..78160012-chr4:78227264..78228770,2	MCF-7	breast:
8	chr4:78174499..78176837-chr4:78205161..78207032,2	MCF-7	breast:
9	chr4:78182930..78185790-chr4:78187841..78189605,2	K562	blood:
10	chr4:78161311..78162711-chr4:78226629..78227614,14	MCF-7	breast:
11	chr4:78230184..78230702-chr4:78278364..78278865,2	MCF-7	breast:
12	chr4:78155252..78157365-chr4:78224145..78227144,3	MCF-7	breast:
13	chr4:78160754..78162321-chr4:78226906..78228617,2	MCF-7	breast:
14	chr4:78161416..78162110-chr4:78226527..78227315,3	MCF-7	breast:
15	chr4:78161188..78162532-chr4:78229476..78230856,15	MCF-7	breast:
16	chr4:78161284..78162458-chr4:78229777..78230742,7	K562	blood:
17	chr4:78182930..78185790-chr4:78187841..78189605,2	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: 3798 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:3798 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs716201	chr4:78181108-78181109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191915526	chr4:78181114-78181115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79911758	chr4:78181115-78181116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184300466	chr4:78181134-78181135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547781026	chr4:78181140-78181141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571011057	chr4:78181155-78181156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190164559	chr4:78181187-78181188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182286565	chr4:78181220-78181221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187349967	chr4:78181248-78181249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79580329	chr4:78181259-78181260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189311807	chr4:78181269-78181270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554680012	chr4:78181292-78181293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574483382	chr4:78181295-78181296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116274884	chr4:78181311-78181312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553774311	chr4:78181371-78181372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577053686	chr4:78181380-78181381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs736600	chr4:78181403-78181404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs368863371	chr4:78181404-78181405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562320034	chr4:78181411-78181412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531373556	chr4:78181419-78181420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs888981	chr4:78181435-78181436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145509164	chr4:78181445-78181446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527788474	chr4:78181458-78181459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570898487	chr4:78181465-78181466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180961907	chr4:78181477-78181478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185527002	chr4:78181511-78181512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548735170	chr4:78181515-78181516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550507556	chr4:78181520-78181521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560821329	chr4:78181533-78181534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190290541	chr4:78181566-78181567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12507235	chr4:78181627-78181628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144058585	chr4:78181629-78181630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs736601	chr4:78181653-78181654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148253435	chr4:78181662-78181663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577536731	chr4:78181684-78181685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182826082	chr4:78181713-78181714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141194339	chr4:78181719-78181720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186082415	chr4:78181734-78181735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545415766	chr4:78181776-78181777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556003960	chr4:78181784-78181785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2194122	chr4:78181802-78181803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs73826800	chr4:78181846-78181847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561964636	chr4:78181866-78181867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527774794	chr4:78181867-78181868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371006366	chr4:78181898-78181899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538673609	chr4:78181904-78181905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150755496	chr4:78181925-78181926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191704175	chr4:78181927-78181928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570314673	chr4:78181938-78181939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552076119	chr4:78181991-78181992	Weak transcription	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78180000-78190200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:78181000-78181400	Enhancers	Adipose Nuclei	Adipose
3	chr4:78181400-78182400	Weak transcription	Adipose Nuclei	Adipose
4	chr4:78182400-78182600	Enhancers	Adipose Nuclei	Adipose
5	chr4:78184400-78184800	Enhancers	Placenta	Placenta
6	chr4:78184800-78186200	Weak transcription	Placenta	Placenta
7	chr4:78186200-78186600	Enhancers	HMEC	breast
8	chr4:78186200-78186800	Enhancers	Placenta	Placenta
9	chr4:78186600-78190400	Weak transcription	HMEC	breast
10	chr4:78186800-78188600	Weak transcription	Placenta	Placenta
11	chr4:78188600-78190600	Enhancers	Placenta	Placenta
12	chr4:78190200-78191000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:78190200-78191000	Bivalent Enhancer	HSMMtube	muscle
14	chr4:78190200-78191400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:78190400-78191000	Enhancers	HMEC	breast
16	chr4:78190400-78191600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr4:78190600-78191000	Weak transcription	Placenta	Placenta
18	chr4:78191000-78193600	Enhancers	Placenta	Placenta
19	chr4:78191000-78200000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:78193600-78205400	Weak transcription	Placenta	Placenta
21	chr4:78199600-78201200	Enhancers	HMEC	breast
22	chr4:78200000-78200800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:78200000-78201000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:78200000-78201000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:78200000-78201000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:78203200-78203600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:78203400-78203800	Enhancers	Adipose Nuclei	Adipose
28	chr4:78205200-78205600	Enhancers	HSMMtube	muscle
29	chr4:78205200-78205800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:78205400-78205800	Enhancers	Placenta	Placenta
31	chr4:78205800-78211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:78210400-78210600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:78210600-78221800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:78213200-78214600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:78214400-78214600	Enhancers	Placenta	Placenta
36	chr4:78214600-78214800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr4:78214600-78215200	Weak transcription	Placenta	Placenta
38	chr4:78215200-78216000	Enhancers	Placenta	Placenta
39	chr4:78219000-78222200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:78219600-78219800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:78219600-78219800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
42	chr4:78219600-78219800	Enhancers	Primary hematopoietic stem cells	blood
43	chr4:78219600-78219800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr4:78219600-78219800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:78219800-78222400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:78221400-78221600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:78221400-78221800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:78221600-78222400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:78221600-78222800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:78221800-78222200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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