Variant report

Variant	nsv432613
Chromosome Location	chr4:78169507-78234279
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	BHLHE40	chr4:78169965-78170247	HepG2	liver:	n/a	n/a
2	BRCA1	chr4:78230084-78230356	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr4:78171884-78171912	HepG2	liver:	n/a	n/a
4	CEBPB	chr4:78227010-78227248	Hela-S3	cervix:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
5	CEBPB	chr4:78215423-78215638	IMR90	lung:	n/a	chr4:78215544-78215555
6	CEBPB	chr4:78226987-78227290	HepG2	liver:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
7	CEBPB	chr4:78215400-78215689	HepG2	liver:	n/a	chr4:78215544-78215555
8	CEBPB	chr4:78226971-78227260	K562	blood:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
9	CEBPB	chr4:78215392-78215580	K562	blood:	n/a	chr4:78215544-78215555
10	CEBPB	chr4:78226915-78227276	MCF-7	breast:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
11	CHD2	chr4:78230108-78230195	HepG2	liver:	n/a	n/a
12	CTCF	chr4:78227080-78227230	Hela-S3	cervix:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
13	CTCF	chr4:78188204-78188241	GM19239	blood:	n/a	n/a
14	CTCF	chr4:78230118-78230284	GM20000	blood:	n/a	n/a
15	CTCF	chr4:78230126-78230318	GM10248	blood:	n/a	n/a
16	CTCF	chr4:78230140-78230290	GM12865	blood:	n/a	n/a
17	CTCF	chr4:78188191-78188253	MCF-7	breast:	n/a	n/a
18	CTCF	chr4:78198560-78198710	HepG2	liver:	n/a	chr4:78198641-78198650
19	CTCF	chr4:78230086-78230316	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr4:78230160-78230310	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr4:78170580-78170730	HepG2	liver:	n/a	chr4:78170664-78170685 chr4:78170669-78170687 chr4:78170675-78170684
22	CTCF	chr4:78230160-78230310	GM12870	blood:	n/a	n/a
23	CTCF	chr4:78170620-78170770	A549	lung:	n/a	chr4:78170664-78170685 chr4:78170669-78170687 chr4:78170675-78170684
24	CTCF	chr4:78230120-78230270	AG10803	skin:	n/a	n/a
25	CTCF	chr4:78170674-78170739	LNCaP	prostate:	n/a	chr4:78170675-78170684
26	CTCF	chr4:78230144-78230308	NHEK	skin:	n/a	n/a
27	CTCF	chr4:78230080-78230324	HepG2	liver:	n/a	n/a
28	CTCF	chr4:78230140-78230290	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr4:78230140-78230290	NHEK	skin:	n/a	n/a
30	CTCF	chr4:78197280-78197430	MCF-7	breast:	n/a	n/a
31	CTCF	chr4:78197240-78197390	NHEK	skin:	n/a	n/a
32	CTCF	chr4:78188140-78188290	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr4:78230201-78230293	GM19238	blood:	n/a	n/a
34	CTCF	chr4:78230096-78230311	T-47D	breast:	n/a	n/a
35	CTCF	chr4:78230111-78230317	LNCaP	prostate:	n/a	n/a
36	CTCF	chr4:78230160-78230310	GM12871	blood:	n/a	n/a
37	CTCF	chr4:78170560-78170710	HMF	breast:	n/a	chr4:78170664-78170685 chr4:78170669-78170687 chr4:78170675-78170684
38	CTCF	chr4:78170660-78170810	HEEpiC	esophagus:	n/a	chr4:78170664-78170685 chr4:78170669-78170687 chr4:78170675-78170684
39	CTCF	chr4:78230140-78230290	GM12874	blood:	n/a	n/a
40	CTCF	chr4:78230091-78230321	LNCaP	prostate:	n/a	n/a
41	CTCF	chr4:78230083-78230334	MCF-7	breast:	n/a	n/a
42	CTCF	chr4:78230160-78230310	GM12874	blood:	n/a	n/a
43	CTCF	chr4:78230120-78230270	AG04449	skin:	n/a	n/a
44	CTCF	chr4:78230200-78230350	GM12866	blood:	n/a	n/a
45	CTCF	chr4:78170600-78170750	BE2_C	brain:	n/a	chr4:78170664-78170685 chr4:78170669-78170687 chr4:78170675-78170684
46	CTCF	chr4:78230220-78230370	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr4:78230160-78230310	GM12868	blood:	n/a	n/a
48	CTCF	chr4:78230120-78230270	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr4:78227023-78227188	MCF-7	breast:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
50	CTCF	chr4:78217678-78217736	LNCaP	prostate:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:78158067..78160012-chr4:78227264..78228770,2	MCF-7	breast:
2	chr4:78177354..78179710-chr4:78180664..78183643,2	MCF-7	breast:
3	chr4:78177354..78179710-chr4:78180664..78183643,2	MCF-7	breast:
4	chr4:78161188..78162532-chr4:78229476..78230856,15	MCF-7	breast:
5	chr4:78182930..78185790-chr4:78187841..78189605,2	K562	blood:
6	chr4:78174499..78176837-chr4:78205161..78207032,2	MCF-7	breast:
7	chr4:78160754..78162321-chr4:78226906..78228617,2	MCF-7	breast:
8	chr4:78182930..78185790-chr4:78187841..78189605,2	K562	blood:
9	chr4:78161311..78162711-chr4:78226629..78227614,14	MCF-7	breast:
10	chr4:78155252..78157365-chr4:78224145..78227144,3	MCF-7	breast:
11	chr4:77973179..77974099-chr4:78229775..78230650,3	K562	blood:
12	chr4:78161416..78162110-chr4:78226527..78227315,3	MCF-7	breast:
13	chr4:78230184..78230702-chr4:78278364..78278865,2	MCF-7	breast:
14	chr4:78161284..78162458-chr4:78229777..78230742,7	K562	blood:
15	chr4:78162165..78163774-chr4:78227168..78228953,2	MCF-7	breast:
16	chr4:78229797..78230625-chr4:78279333..78280102,3	MCF-7	breast:
17	chr4:78161398..78162211-chr4:78229720..78230660,3	MCF-7	breast:
18	chr4:78155142..78157870-chr4:78168469..78170209,2	MCF-7	breast:
19	chr4:78174499..78176837-chr4:78205161..78207032,2	MCF-7	breast:

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: 3098 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:3098 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41375744	chr4:78169507-78169508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573897631	chr4:78169563-78169564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191895608	chr4:78169588-78169589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184370782	chr4:78169589-78169590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536961641	chr4:78169615-78169616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373234003	chr4:78169618-78169619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561956903	chr4:78169619-78169620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559512053	chr4:78169722-78169723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77576234	chr4:78169727-78169728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551953918	chr4:78169736-78169737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527475872	chr4:78169749-78169750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565270901	chr4:78169754-78169755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530964503	chr4:78169761-78169762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11097745	chr4:78169776-78169777	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567835108	chr4:78169823-78169824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72866403	chr4:78169839-78169840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79341113	chr4:78169894-78169895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs80261781	chr4:78169903-78169904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555065373	chr4:78169945-78169946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144753769	chr4:78169968-78169969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534324875	chr4:78169970-78169971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570886175	chr4:78170013-78170014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114078974	chr4:78170015-78170016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556929972	chr4:78170027-78170028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573815817	chr4:78170061-78170062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73826792	chr4:78170078-78170079	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9307253	chr4:78170081-78170082	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573117999	chr4:78170095-78170096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545505034	chr4:78170096-78170097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73826793	chr4:78170201-78170202	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539053734	chr4:78170234-78170235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7377897	chr4:78170317-78170318	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs190405271	chr4:78170351-78170352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561337277	chr4:78170391-78170392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139868955	chr4:78170399-78170400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4859761	chr4:78170419-78170420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538389629	chr4:78170443-78170444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2216631	chr4:78170469-78170470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs375844118	chr4:78170470-78170471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568672088	chr4:78170482-78170483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182096794	chr4:78170501-78170502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4406045	chr4:78170557-78170558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs375764975	chr4:78170577-78170578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145351814	chr4:78170598-78170599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536149107	chr4:78170635-78170636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554462626	chr4:78170744-78170745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147838828	chr4:78170750-78170751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562173171	chr4:78170751-78170752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187610616	chr4:78170769-78170770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115300670	chr4:78170774-78170775	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78168600-78170000	Enhancers	Pancreas	Pancrea
2	chr4:78169800-78170400	Enhancers	HepG2	liver
3	chr4:78169800-78170800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:78170000-78170400	Enhancers	Gastric	stomach
5	chr4:78170000-78170400	Weak transcription	Pancreas	Pancrea
6	chr4:78170400-78173000	Enhancers	Pancreas	Pancrea
7	chr4:78172000-78172200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:78172000-78172400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:78175000-78176000	Enhancers	Placenta	Placenta
10	chr4:78176000-78176800	Weak transcription	Placenta	Placenta
11	chr4:78176000-78177000	Enhancers	Fetal Intestine Small	intestine
12	chr4:78176800-78177600	Enhancers	Placenta	Placenta
13	chr4:78180000-78190200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:78181000-78181400	Enhancers	Adipose Nuclei	Adipose
15	chr4:78181400-78182400	Weak transcription	Adipose Nuclei	Adipose
16	chr4:78182400-78182600	Enhancers	Adipose Nuclei	Adipose
17	chr4:78184400-78184800	Enhancers	Placenta	Placenta
18	chr4:78184800-78186200	Weak transcription	Placenta	Placenta
19	chr4:78186200-78186600	Enhancers	HMEC	breast
20	chr4:78186200-78186800	Enhancers	Placenta	Placenta
21	chr4:78186600-78190400	Weak transcription	HMEC	breast
22	chr4:78186800-78188600	Weak transcription	Placenta	Placenta
23	chr4:78188600-78190600	Enhancers	Placenta	Placenta
24	chr4:78190200-78191000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:78190200-78191000	Bivalent Enhancer	HSMMtube	muscle
26	chr4:78190200-78191400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:78190400-78191000	Enhancers	HMEC	breast
28	chr4:78190400-78191600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr4:78190600-78191000	Weak transcription	Placenta	Placenta
30	chr4:78191000-78193600	Enhancers	Placenta	Placenta
31	chr4:78191000-78200000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:78193600-78205400	Weak transcription	Placenta	Placenta
33	chr4:78199600-78201200	Enhancers	HMEC	breast
34	chr4:78200000-78200800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:78200000-78201000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:78200000-78201000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:78200000-78201000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:78203200-78203600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:78203400-78203800	Enhancers	Adipose Nuclei	Adipose
40	chr4:78205200-78205600	Enhancers	HSMMtube	muscle
41	chr4:78205200-78205800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:78205400-78205800	Enhancers	Placenta	Placenta
43	chr4:78205800-78211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:78210400-78210600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:78210600-78221800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:78213200-78214600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr4:78214400-78214600	Enhancers	Placenta	Placenta
48	chr4:78214600-78214800	Enhancers	H9 Cell Line	embryonic stem cell
49	chr4:78214600-78215200	Weak transcription	Placenta	Placenta
50	chr4:78215200-78216000	Enhancers	Placenta	Placenta

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