Variant report

Variant	nsv879828
Chromosome Location	chr4:118408638-118491496
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	CEBPB	chr4:118470846-118471144	H1-hESC	embryonic stem cell:	n/a	chr4:118470987-118471000 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470987-118471000 chr4:118470989-118471000 chr4:118470989-118470998 chr4:118470987-118470998
2	CEBPB	chr4:118419534-118419879	IMR90	lung:	n/a	chr4:118419712-118419723
3	CEBPB	chr4:118470874-118471170	K562	blood:	n/a	chr4:118470987-118471000 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470987-118471000 chr4:118470989-118471000 chr4:118470989-118470998 chr4:118470987-118470998
4	CEBPB	chr4:118486322-118486565	HepG2	liver:	n/a	n/a
5	CEBPB	chr4:118419554-118419881	A549	lung:	n/a	chr4:118419712-118419723
6	CEBPB	chr4:118470821-118471168	IMR90	lung:	n/a	chr4:118470987-118471000 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470987-118471000 chr4:118470989-118471000 chr4:118470989-118470998 chr4:118470987-118470998
7	CEBPB	chr4:118419537-118419901	HepG2	liver:	n/a	chr4:118419712-118419723
8	CEBPB	chr4:118470825-118471177	HepG2	liver:	n/a	chr4:118470987-118471000 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470987-118471000 chr4:118470989-118471000 chr4:118470989-118470998 chr4:118470987-118470998
9	CEBPB	chr4:118419609-118419809	H1-hESC	embryonic stem cell:	n/a	chr4:118419712-118419723
10	CEBPB	chr4:118466288-118466589	HepG2	liver:	n/a	chr4:118466462-118466473
11	CEBPB	chr4:118470819-118471146	A549	lung:	n/a	chr4:118470987-118471000 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470987-118471000 chr4:118470989-118471000 chr4:118470989-118470998 chr4:118470987-118470998
12	CTCF	chr4:118481520-118481670	HEEpiC	esophagus:	n/a	n/a
13	CTCF	chr4:118481580-118481730	HMEC	breast:	n/a	n/a
14	CTCF	chr4:118437640-118437790	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr4:118481520-118481670	MCF-7	breast:	n/a	n/a
16	CTCF	chr4:118481480-118481870	IMR90	lung:	n/a	n/a
17	CTCF	chr4:118461019-118461102	NHEK	skin:	n/a	n/a
18	CTCF	chr4:118481540-118481690	HCT-116	colon:	n/a	n/a
19	CTCF	chr4:118437646-118437844	IMR90	lung:	n/a	n/a
20	CTCF	chr4:118481581-118481781	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr4:118437660-118437810	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr4:118481589-118481767	Medullo	brain:	n/a	n/a
23	CTCF	chr4:118437701-118437748	Gliobla	brain:	n/a	n/a
24	CTCF	chr4:118437580-118437830	BE2_C	brain:	n/a	n/a
25	CTCF	chr4:118481580-118481730	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr4:118481520-118481670	BE2_C	brain:	n/a	n/a
27	CTCF	chr4:118481600-118481750	HRE	kidney:	n/a	n/a
28	CTCF	chr4:118481632-118481729	LNCaP	prostate:	n/a	n/a
29	CTCF	chr4:118481740-118481890	BE2_C	brain:	n/a	n/a
30	CTCF	chr4:118481492-118481842	GM12878	blood:	n/a	n/a
31	CTCF	chr4:118481620-118481770	AG04450	lung:	n/a	n/a
32	CTCF	chr4:118481820-118481970	AG04450	lung:	n/a	n/a
33	CTCF	chr4:118481540-118481690	RPTEC	kidney:	n/a	n/a
34	CTCF	chr4:118437520-118437670	AG04450	lung:	n/a	n/a
35	CTCF	chr4:118481580-118481730	AG04449	skin:	n/a	n/a
36	CTCF	chr4:118461027-118461092	GM12892	blood:	n/a	n/a
37	CTCF	chr4:118481520-118481670	HMEC	breast:	n/a	n/a
38	CTCF	chr4:118481600-118481750	RPTEC	kidney:	n/a	n/a
39	CTCF	chr4:118481622-118481748	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr4:118481680-118481830	HPF	lung:	n/a	n/a
41	CTCF	chr4:118481617-118481719	GM12878	blood:	n/a	n/a
42	CTCF	chr4:118437714-118437740	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr4:118481473-118481988	HCT-116	colon:	n/a	n/a
44	CTCF	chr4:118453220-118453263	GM10266	blood:	n/a	n/a
45	CTCF	chr4:118481580-118481730	AG04450	lung:	n/a	n/a
46	CTCF	chr4:118437520-118437670	BE2_C	brain:	n/a	n/a
47	CTCF	chr4:118481616-118481766	LNCaP	prostate:	n/a	n/a
48	CTCF	chr4:118481640-118481790	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr4:118481560-118481710	GM06990	blood:	n/a	n/a
50	CTCF	chr4:118437600-118437750	AG04450	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	4:118414019-118416561..4:118706981-118715929	Hela-S3	cervix:
2	4:118471614-118473329..4:118473525-118474828	Hela-S3	cervix:
3	4:118454469-118464115..4:118706981-118715929	H1-hESC	embryonic stem cell:	embryo
4	4:118428948-118429401..4:118429401-118431437	H1-hESC	embryonic stem cell:	embryo
5	chr4:118473427..118475701-chr4:118478526..118481071,2	K562	blood:
6	4:118471614-118473329..4:118473525-118474828	Hela-S3	cervix:
7	4:118428948-118429401..4:118541860-118551269	H1-hESC	embryonic stem cell:	embryo
8	4:118454469-118464115..4:118659345-118667424	H1-hESC	embryonic stem cell:	embryo
9	4:118320200-118324249..4:118414019-118416561	Hela-S3	cervix:
10	4:118424109-118425531..4:118428948-118429401	K562	blood:
11	4:118428948-118429401..4:118429401-118431437	H1-hESC	embryonic stem cell:	embryo
12	4:118319405-118319911..4:118454469-118464115	H1-hESC	embryonic stem cell:	embryo
13	chr4:118473427..118475701-chr4:118478526..118481071,2	K562	blood:
14	4:118357351-118360885..4:118437019-118438281	H1-hESC	embryonic stem cell:	embryo
15	4:118424109-118425531..4:118428948-118429401	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRAM1L1-4	chr4:118461916-118461967	NONHSAT097961
2	lnc-NDST3-4	chr4:118461252-118461728	ENSG00000236922
3	lnc-TRAM1L1-4	chr4:118456449-118456752	NONHSAT097961
4	lnc-TRAM1L1-4	chr4:118455201-118455293	NONHSAT097961
5	lnc-TRAM1L1-4	chr4:118455756-118455837	NONHSAT097961

Variant related genes	Relation type
ENSG00000236922	TF binding region

Extended variants
information (count: 759 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:759 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181814400	chr4:118412211-118412212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538652434	chr4:118412232-118412233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201111896	chr4:118412233-118412234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147391902	chr4:118412261-118412262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566055065	chr4:118412265-118412266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17867435	chr4:118412270-118412271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187102733	chr4:118412274-118412275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190990489	chr4:118412275-118412276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139709751	chr4:118412286-118412287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575074126	chr4:118412296-118412297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537781179	chr4:118412317-118412318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201059957	chr4:118412333-118412334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556771166	chr4:118412361-118412362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9993338	chr4:118412387-118412388	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576060288	chr4:118412428-118412429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545039566	chr4:118412432-118412433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535916360	chr4:118412438-118412439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79858807	chr4:118412444-118412445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564337975	chr4:118412473-118412474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572075039	chr4:118412484-118412485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530761596	chr4:118412501-118412502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541218442	chr4:118412506-118412507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560968541	chr4:118412508-118412509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183549433	chr4:118412510-118412511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17861218	chr4:118412521-118412522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34828872	chr4:118412528-118412529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34001502	chr4:118412529-118412530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144286800	chr4:118412530-118412531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386401265	chr4:118412541-118412542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532629478	chr4:118412580-118412581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543268851	chr4:118412601-118412602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554764400	chr4:118412633-118412634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114693475	chr4:118412635-118412636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397805495	chr4:118412656-118412657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201958476	chr4:118412657-118412658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566140018	chr4:118412703-118412704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376492928	chr4:118412732-118412733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548753997	chr4:118412735-118412736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568519979	chr4:118412744-118412745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537643688	chr4:118412787-118412788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17867434	chr4:118412823-118412824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17861988	chr4:118412844-118412845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150597778	chr4:118412886-118412887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571197833	chr4:118412914-118412915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185116581	chr4:118412955-118412956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530802209	chr4:118412960-118412961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558316500	chr4:118412976-118412977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111838357	chr4:118413056-118413057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17861219	chr4:118413062-118413063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370305492	chr4:118413104-118413105	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118412200-118413000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr4:118412200-118413200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:118412600-118413000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:118412600-118413000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:118412600-118413200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:118412600-118413200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:118412600-118413600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:118412600-118413600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:118412800-118413200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:118413000-118413400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:118414200-118414600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:118414200-118414800	Enhancers	NHEK	skin
13	chr4:118414400-118414800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:118417600-118418000	Enhancers	Colon Smooth Muscle	Colon
15	chr4:118434400-118436000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:118435400-118435800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:118435400-118436200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:118435600-118436200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:118435600-118436200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:118435800-118436200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:118436000-118437000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:118437000-118437200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:118437200-118437400	ZNF genes & repeats	Psoas Muscle	Psoas
24	chr4:118449400-118449800	Enhancers	Fetal Brain Male	brain
25	chr4:118449800-118454200	Weak transcription	Fetal Brain Male	brain
26	chr4:118450600-118451000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:118450600-118451000	Enhancers	Liver	Liver
28	chr4:118450600-118451000	Enhancers	HSMMtube	muscle
29	chr4:118451000-118454000	Weak transcription	Liver	Liver
30	chr4:118454000-118455400	Enhancers	Liver	Liver
31	chr4:118454200-118454400	Enhancers	Fetal Brain Male	brain
32	chr4:118454400-118454800	Weak transcription	Fetal Brain Male	brain
33	chr4:118454800-118455000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:118454800-118455200	Enhancers	Fetal Brain Male	brain
35	chr4:118455000-118459800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:118455400-118455800	Weak transcription	Liver	Liver
37	chr4:118455800-118457400	Enhancers	Liver	Liver
38	chr4:118459800-118460000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:118460000-118460400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:118460200-118461000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:118460400-118461200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:118466200-118466600	Enhancers	Liver	Liver
43	chr4:118470600-118470800	Enhancers	Brain Angular Gyrus	brain
44	chr4:118470600-118471000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr4:118470600-118471000	Active TSS	Brain Anterior Caudate	brain
46	chr4:118470600-118471000	Enhancers	Brain Hippocampus Middle	brain
47	chr4:118470600-118471000	Enhancers	Small Intestine	intestine
48	chr4:118470600-118471400	Enhancers	Fetal Kidney	kidney
49	chr4:118470600-118471600	Enhancers	Fetal Lung	lung
50	chr4:118470800-118471600	Enhancers	Colon Smooth Muscle	Colon

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