Variant report

Variant	nsv999304
Chromosome Location	chr4:78204224-78255427
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	chr4:78253746-78254319	HCT-116	colon:	n/a	n/a
3	CBX3	chr4:78253883-78254139	K562	blood:	n/a	n/a
4	CBX3	chr4:78253824-78254202	K562	blood:	n/a	n/a
5	CEBPB	chr4:78215423-78215638	IMR90	lung:	n/a	chr4:78215544-78215555
6	CEBPB	chr4:78215392-78215580	K562	blood:	n/a	chr4:78215544-78215555
7	CEBPB	chr4:78227010-78227248	Hela-S3	cervix:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
8	CEBPB	chr4:78215400-78215689	HepG2	liver:	n/a	chr4:78215544-78215555
9	CEBPB	chr4:78226971-78227260	K562	blood:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
10	CEBPB	chr4:78226987-78227290	HepG2	liver:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
11	CEBPB	chr4:78226915-78227276	MCF-7	breast:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
12	CHD2	chr4:78230108-78230195	HepG2	liver:	n/a	n/a
13	CHD2	chr4:78254095-78254505	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr4:78230140-78230290	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr4:78230096-78230311	T-47D	breast:	n/a	n/a
16	CTCF	chr4:78230100-78230250	AG09309	skin:	n/a	n/a
17	CTCF	chr4:78226960-78227110	GM12864	blood:	n/a	n/a
18	CTCF	chr4:78230060-78230210	WI-38	lung:	n/a	n/a
19	CTCF	chr4:78229902-78230535	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr4:78226860-78227010	RPTEC	kidney:	n/a	n/a
21	CTCF	chr4:78230064-78230350	Medullo	brain:	n/a	n/a
22	CTCF	chr4:78230140-78230290	GM12873	blood:	n/a	n/a
23	CTCF	chr4:78230120-78230270	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr4:78227000-78227150	SAEC	small airway:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
25	CTCF	chr4:78230120-78230270	NHDF-neo	bronchial:	n/a	n/a
26	CTCF	chr4:78230160-78230310	GM12868	blood:	n/a	n/a
27	CTCF	chr4:78230120-78230270	AG10803	skin:	n/a	n/a
28	CTCF	chr4:78230080-78230324	HepG2	liver:	n/a	n/a
29	CTCF	chr4:78230200-78230350	NB4	blood:	n/a	n/a
30	CTCF	chr4:78230220-78230370	HCT-116	colon:	n/a	n/a
31	CTCF	chr4:78227089-78227207	IMR90	lung:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
32	CTCF	chr4:78230120-78230270	HEK293	kidney:	n/a	n/a
33	CTCF	chr4:78230080-78230230	GM12872	blood:	n/a	n/a
34	CTCF	chr4:78230160-78230310	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr4:78230081-78230330	K562	blood:	n/a	n/a
36	CTCF	chr4:78229885-78230483	A549	lung:	n/a	n/a
37	CTCF	chr4:78230216-78230242	MCF-7	breast:	n/a	n/a
38	CTCF	chr4:78230100-78230250	HVMF	connective:	n/a	n/a
39	CTCF	chr4:78229988-78230352	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr4:78227040-78227190	SAEC	small airway:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
41	CTCF	chr4:78226960-78227110	GM12871	blood:	n/a	n/a
42	CTCF	chr4:78230100-78230250	Caco-2	colon:	n/a	n/a
43	CTCF	chr4:78230160-78230310	HCT-116	colon:	n/a	n/a
44	CTCF	chr4:78217678-78217736	LNCaP	prostate:	n/a	n/a
45	CTCF	chr4:78230160-78230310	AG09309	skin:	n/a	n/a
46	CTCF	chr4:78230080-78230230	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr4:78229900-78230050	AG04450	lung:	n/a	n/a
48	CTCF	chr4:78227062-78227175	Gliobla	brain:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
49	CTCF	chr4:78227023-78227188	MCF-7	breast:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
50	CTCF	chr4:78227042-78227044	LNCaP	prostate:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:78161416..78162110-chr4:78226527..78227315,3	MCF-7	breast:
2	chr4:77973179..77974099-chr4:78229775..78230650,3	K562	blood:
3	chr4:78155252..78157365-chr4:78224145..78227144,3	MCF-7	breast:
4	chr4:78230184..78230702-chr4:78278364..78278865,2	MCF-7	breast:
5	chr4:78161398..78162211-chr4:78229720..78230660,3	MCF-7	breast:
6	chr4:78162165..78163774-chr4:78227168..78228953,2	MCF-7	breast:
7	chr4:78229797..78230625-chr4:78279333..78280102,3	MCF-7	breast:
8	chr4:78160754..78162321-chr4:78226906..78228617,2	MCF-7	breast:
9	chr4:78174499..78176837-chr4:78205161..78207032,2	MCF-7	breast:
10	chr4:78158067..78160012-chr4:78227264..78228770,2	MCF-7	breast:
11	chr4:78236163..78238480-chr4:78287943..78289669,2	K562	blood:
12	chr4:78161188..78162532-chr4:78229476..78230856,15	MCF-7	breast:
13	chr4:78161311..78162711-chr4:78226629..78227614,14	MCF-7	breast:
14	chr4:78161284..78162458-chr4:78229777..78230742,7	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: 2628 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:2628 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548392101	chr4:78204232-78204233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377172874	chr4:78204241-78204242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181429134	chr4:78204250-78204251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139937790	chr4:78204313-78204314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113011924	chr4:78204369-78204370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186960837	chr4:78204402-78204403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191704543	chr4:78204417-78204418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181830856	chr4:78204433-78204434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10033006	chr4:78204434-78204435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542044853	chr4:78204440-78204441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186332519	chr4:78204506-78204507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10023087	chr4:78204516-78204517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548489543	chr4:78204574-78204575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140509947	chr4:78204586-78204587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34240642	chr4:78204589-78204590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559576982	chr4:78204602-78204603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559823011	chr4:78204608-78204609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531969606	chr4:78204616-78204617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545438394	chr4:78204705-78204706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146710491	chr4:78204714-78204715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369060816	chr4:78204771-78204772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531666319	chr4:78204777-78204778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548209948	chr4:78204781-78204782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568202095	chr4:78204822-78204823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568376876	chr4:78204833-78204834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527504354	chr4:78204864-78204865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547903509	chr4:78204914-78204915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182222550	chr4:78204941-78204942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186200202	chr4:78204950-78204951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77269627	chr4:78204952-78204953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569969727	chr4:78204991-78204992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536116088	chr4:78205003-78205004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555786405	chr4:78205021-78205022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191391943	chr4:78205063-78205064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183111320	chr4:78205065-78205066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553446292	chr4:78205125-78205126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576557218	chr4:78205135-78205136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545378177	chr4:78205170-78205171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17400095	chr4:78205171-78205172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs575950302	chr4:78205286-78205287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17400116	chr4:78205304-78205305	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369947463	chr4:78205324-78205325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527477383	chr4:78205329-78205330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547638710	chr4:78205343-78205344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142516628	chr4:78205344-78205345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2194128	chr4:78205370-78205371	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs112113463	chr4:78205391-78205392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569989731	chr4:78205404-78205405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539185014	chr4:78205407-78205408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141085562	chr4:78205436-78205437	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78193600-78205400	Weak transcription	Placenta	Placenta
2	chr4:78205200-78205600	Enhancers	HSMMtube	muscle
3	chr4:78205200-78205800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:78205400-78205800	Enhancers	Placenta	Placenta
5	chr4:78205800-78211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:78210400-78210600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:78210600-78221800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:78213200-78214600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:78214400-78214600	Enhancers	Placenta	Placenta
10	chr4:78214600-78214800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr4:78214600-78215200	Weak transcription	Placenta	Placenta
12	chr4:78215200-78216000	Enhancers	Placenta	Placenta
13	chr4:78219000-78222200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:78219600-78219800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:78219600-78219800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
16	chr4:78219600-78219800	Enhancers	Primary hematopoietic stem cells	blood
17	chr4:78219600-78219800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr4:78219600-78219800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:78219800-78222400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:78221400-78221600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:78221400-78221800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:78221600-78222400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:78221600-78222800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:78221800-78222200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:78221800-78222400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:78221800-78222800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:78221800-78222800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:78221800-78222800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:78221800-78222800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:78221800-78222800	Enhancers	Stomach Mucosa	stomach
31	chr4:78222000-78222400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:78222000-78222400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr4:78222000-78222600	Enhancers	Fetal Muscle Leg	muscle
34	chr4:78222000-78222600	Enhancers	HSMMtube	muscle
35	chr4:78222000-78223000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr4:78222200-78222600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:78222200-78222600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:78222200-78222600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:78222200-78222600	Enhancers	Fetal Muscle Trunk	muscle
40	chr4:78222200-78222800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:78222200-78222800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:78222200-78222800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:78222400-78222600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:78222400-78222800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:78222400-78222800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:78222400-78222800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:78222400-78222800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr4:78222400-78222800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:78222400-78222800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr4:78222400-78222800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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