Variant report

Variant	esv1843942
Chromosome Location	chr4:119324381-119387097
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	BATF	chr4:119340543-119341192	GM12878	blood:	n/a	chr4:119340900-119340911
2	BATF	chr4:119346684-119346850	GM12878	blood:	n/a	n/a
3	BATF	chr4:119340637-119341181	GM12878	blood:	n/a	chr4:119340900-119340911
4	BATF	chr4:119349910-119350272	GM12878	blood:	n/a	n/a
5	BCL11A	chr4:119357419-119357683	GM12878	blood:	n/a	n/a
6	BCL11A	chr4:119346839-119347055	GM12878	blood:	n/a	n/a
7	BCL11A	chr4:119345259-119345545	GM12878	blood:	n/a	n/a
8	BCL11A	chr4:119340615-119341149	GM12878	blood:	n/a	chr4:119340900-119340909
9	BCL11A	chr4:119348069-119348301	GM12878	blood:	n/a	n/a
10	BCL11A	chr4:119349658-119349869	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:119340729-119341128	GM12878	blood:	n/a	chr4:119340900-119340909
12	BCL11A	chr4:119347436-119347664	GM12878	blood:	n/a	n/a
13	BCL11A	chr4:119366080-119366250	GM12878	blood:	n/a	n/a
14	BCL3	chr4:119382599-119382899	GM12878	blood:	n/a	n/a
15	CEBPB	chr4:119331341-119331666	IMR90	lung:	n/a	n/a
16	CEBPB	chr4:119337044-119337239	IMR90	lung:	n/a	n/a
17	CEBPB	chr4:119382583-119382910	IMR90	lung:	n/a	chr4:119382722-119382733
18	CEBPB	chr4:119376054-119376279	IMR90	lung:	n/a	n/a
19	CEBPB	chr4:119340970-119341155	Hela-S3	cervix:	n/a	chr4:119340996-119341007 chr4:119341094-119341111 chr4:119340996-119341009
20	CEBPB	chr4:119340964-119341126	HepG2	liver:	n/a	chr4:119340996-119341007 chr4:119341094-119341111 chr4:119340996-119341009
21	CEBPB	chr4:119340977-119341100	IMR90	lung:	n/a	chr4:119340996-119341007 chr4:119340996-119341009
22	CEBPB	chr4:119338475-119338816	IMR90	lung:	n/a	n/a
23	CEBPB	chr4:119351771-119351934	K562	blood:	n/a	n/a
24	CHD2	chr4:119345423-119345555	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr4:119345365-119345439	Spleen_OC	spleen:	n/a	n/a
26	CTCF	chr4:119344940-119345090	SAEC	small airway:	n/a	n/a
27	CTCF	chr4:119353160-119353310	HEK293	kidney:	n/a	n/a
28	CTCF	chr4:119371523-119371617	Gliobla	brain:	n/a	n/a
29	CTCF	chr4:119345276-119345547	Medullo	brain:	n/a	n/a
30	CTCF	chr4:119345380-119345530	HMEC	breast:	n/a	n/a
31	CTCF	chr4:119349722-119349782	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr4:119345331-119345507	GM12878	blood:	n/a	n/a
33	CTCF	chr4:119353300-119353450	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr4:119353200-119353350	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr4:119345320-119345470	RPTEC	kidney:	n/a	n/a
36	CTCF	chr4:119353285-119353314	K562	blood:	n/a	n/a
37	CTCF	chr4:119344940-119345090	BJ	skin:	n/a	n/a
38	CTCF	chr4:119345320-119345470	GM12870	blood:	n/a	n/a
39	CTCF	chr4:119353220-119353370	MCF-7	breast:	n/a	n/a
40	CTCF	chr4:119345306-119345469	HepG2	liver:	n/a	n/a
41	CTCF	chr4:119345267-119345541	MCF-7	breast:	n/a	n/a
42	CTCF	chr4:119345314-119345496	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr4:119345380-119345530	BJ	skin:	n/a	n/a
44	CTCF	chr4:119345300-119345450	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr4:119345320-119345470	HCM	heart:	n/a	n/a
46	CTCF	chr4:119374118-119374125	LNCaP	prostate:	n/a	n/a
47	CTCF	chr4:119371579-119371615	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr4:119386916-119386964	Lung_OC	lung:	n/a	n/a
49	CTCF	chr4:119345282-119345520	GM19238	blood:	n/a	n/a
50	CTCF	chr4:119345295-119345522	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119198536..119201399-chr4:119334515..119337557,3	MCF-7	breast:
2	chr4:119199281..119200962-chr4:119368800..119371509,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDST3-3	chr4:119350138-119350584	XLOC_003661
2	lnc-NDST3-3	chr4:119349734-119350000	XLOC_003661
3	lnc-NDST3-3	chr4:119348948-119349038	XLOC_003661

Variant related genes	Relation type
CEP170P1	TF binding region
NDUFS5P5	TF binding region
ENSG00000269893	chromatin interactions

Extended variants
information (count: 1251 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1251 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6843909	chr4:119324399-119324400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552554712	chr4:119324407-119324408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187342181	chr4:119324468-119324469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535758922	chr4:119324490-119324491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191807567	chr4:119324514-119324515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6821273	chr4:119324515-119324516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544699887	chr4:119324519-119324520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184349139	chr4:119324532-119324533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146378092	chr4:119324541-119324542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540585009	chr4:119324564-119324565	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs138475304	chr4:119324571-119324572	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs190064251	chr4:119324573-119324574	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs62328889	chr4:119324574-119324575	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs562925836	chr4:119324583-119324584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531827348	chr4:119324636-119324637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553805290	chr4:119324655-119324656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193216563	chr4:119324693-119324694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570167839	chr4:119324747-119324748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542664072	chr4:119324755-119324756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539158610	chr4:119324795-119324796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114645616	chr4:119324811-119324812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566487274	chr4:119324837-119324838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573574937	chr4:119324846-119324847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555666842	chr4:119324852-119324853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185688808	chr4:119324864-119324865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189365165	chr4:119324919-119324920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111709162	chr4:119324920-119324921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557987758	chr4:119324931-119324932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181013904	chr4:119324950-119324951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540744901	chr4:119324951-119324952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552875357	chr4:119325004-119325005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs574015255	chr4:119325005-119325006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs185439208	chr4:119325019-119325020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs563243840	chr4:119325021-119325022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531886552	chr4:119325039-119325040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs551522563	chr4:119325047-119325048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs199837715	chr4:119325066-119325067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs571019275	chr4:119325144-119325145	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs188391558	chr4:119325167-119325168	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs181215527	chr4:119325169-119325170	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs141978594	chr4:119325171-119325172	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs185757417	chr4:119325180-119325181	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs569125410	chr4:119325190-119325191	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs191662765	chr4:119325191-119325192	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs557949131	chr4:119325194-119325195	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs571487512	chr4:119325195-119325196	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs184005025	chr4:119325214-119325215	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs554282806	chr4:119325220-119325221	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs575766930	chr4:119325257-119325258	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs542961091	chr4:119325274-119325275	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119319600-119325000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:119325000-119325800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:119325800-119334800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:119331000-119331600	Enhancers	HMEC	breast
5	chr4:119331000-119332000	Enhancers	NHEK	skin
6	chr4:119331200-119331600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:119331200-119331600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:119331200-119331600	Enhancers	NH-A	brain
9	chr4:119331200-119331800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:119331200-119332000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:119331200-119332000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:119331200-119332000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:119331600-119337400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:119334800-119335000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:119334800-119335000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:119335000-119336800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:119336800-119337000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:119337400-119339200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:119337600-119339400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:119338000-119339200	Enhancers	HMEC	breast
21	chr4:119338000-119339400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:119338000-119339400	Enhancers	NHEK	skin
23	chr4:119338200-119338600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:119338400-119338600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:119338400-119338800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:119338400-119338800	Enhancers	Osteobl	bone
27	chr4:119338400-119339000	Enhancers	HSMMtube	muscle
28	chr4:119338400-119339400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:119338600-119339000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:119338600-119339200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:119338600-119339200	Enhancers	Liver	Liver
32	chr4:119338600-119339800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:119338800-119339200	Bivalent Enhancer	Osteobl	bone
34	chr4:119339200-119339400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:119339200-119340600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:119340600-119340800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:119340600-119341000	Active TSS	Osteobl	bone
38	chr4:119340800-119345400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:119344200-119345600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:119345400-119345600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:119345400-119345800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:119345400-119345800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:119345400-119345800	Enhancers	Dnd41	blood
44	chr4:119345600-119345800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:119346200-119347000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:119355000-119356200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:119355200-119355600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr4:119356000-119356800	Enhancers	Fetal Muscle Leg	muscle
49	chr4:119363400-119363800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr4:119363400-119363800	Enhancers	HUES6 Cell Line	embryonic stem cell

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