Variant report

Variant	esv3409183
Chromosome Location	chr4:95498279-95500302
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	FOS	chr4:95499702-95499859	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr4:95499677-95499909	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr4:95499659-95499897	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr4:95499650-95499932	MCF10A-Er-Src	breast:	n/a	n/a
5	MAFK	chr4:95499787-95499998	HepG2	liver:	n/a	n/a
6	MAX	chr4:95498338-95498520	H1-hESC	embryonic stem cell:	n/a	chr4:95498477-95498486
7	MXI1	chr4:95499289-95499858	IMR90	lung:	n/a	n/a
8	MXI1	chr4:95498062-95498770	SK-N-SH	brain:	n/a	chr4:95498473-95498488 chr4:95498471-95498486
9	MYC	chr4:95499500-95499604	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr4:95499792-95499814	MCF10A-Er-Src	breast:	n/a	n/a
11	REST	chr4:95498412-95498611	SK-N-SH	brain:	n/a	chr4:95498562-95498572
12	REST	chr4:95499367-95499606	HL-60	blood:	n/a	n/a
13	REST	chr4:95499447-95499672	ECC-1	luminal epithelium:	n/a	n/a
14	REST	chr4:95499439-95499566	Hela-S3	cervix:	n/a	n/a
15	REST	chr4:95499361-95499605	SK-N-SH	brain:	n/a	n/a
16	STAT3	chr4:95499612-95499955	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr4:95499630-95500078	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr4:95499675-95499934	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:95498533..95501686-chr4:95504980..95507488,3	K562	blood:
2	chr4:95496466..95498455-chr4:95499358..95501705,2	K562	blood:
3	chr4:95372974..95374639-chr4:95498211..95500101,2	K562	blood:

Variant related genes	Relation type
PDLIM5	TF binding region
ENSG00000163110	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566179921	chr4:95498303-95498304	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs77564896	chr4:95498314-95498315	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs190320179	chr4:95498328-95498329	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115892415	chr4:95498329-95498330	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs554541020	chr4:95498339-95498340	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs574591443	chr4:95498370-95498371	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536885488	chr4:95498392-95498393	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557173390	chr4:95498394-95498395	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200776890	chr4:95498397-95498398	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs182498670	chr4:95498417-95498418	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565291843	chr4:95498428-95498429	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs572301334	chr4:95498458-95498459	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs541729160	chr4:95498487-95498488	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs185341910	chr4:95498506-95498507	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs530402688	chr4:95498568-95498569	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549988790	chr4:95498583-95498584	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370275862	chr4:95498596-95498597	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs66962894	chr4:95498618-95498619	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs10591059	chr4:95498629-95498630	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs35078286	chr4:95498634-95498635	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200186048	chr4:95498635-95498636	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563535973	chr4:95498636-95498637	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs190939607	chr4:95498657-95498658	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs114559414	chr4:95498671-95498672	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs565358309	chr4:95498731-95498732	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374614153	chr4:95498732-95498733	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs11349007	chr4:95498733-95498734	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs397994573	chr4:95498754-95498755	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs372336123	chr4:95498776-95498777	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556537404	chr4:95498785-95498786	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376622396	chr4:95498802-95498803	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548154340	chr4:95498897-95498898	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568293739	chr4:95498901-95498902	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371329396	chr4:95498972-95498973	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs76189901	chr4:95498975-95498976	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557234971	chr4:95498976-95498977	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs202216090	chr4:95499279-95499280	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200022751	chr4:95499280-95499281	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570622100	chr4:95499290-95499291	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs577440478	chr4:95499307-95499308	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs578198321	chr4:95499358-95499359	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs62316471	chr4:95499467-95499468	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs559063167	chr4:95499478-95499479	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs572417961	chr4:95499589-95499590	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs541099284	chr4:95499640-95499641	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs560487969	chr4:95499663-95499664	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs117909321	chr4:95499718-95499719	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs371268005	chr4:95499726-95499727	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs572504367	chr4:95499733-95499734	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs1389161	chr4:95499742-95499743	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95483400-95524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:95484000-95507400	Weak transcription	Hela-S3	cervix
3	chr4:95489000-95507400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:95489200-95506800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr4:95489200-95507400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:95489200-95509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr4:95489400-95506200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:95489600-95508200	Weak transcription	GM12878-XiMat	blood
9	chr4:95489600-95522800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:95489600-95539200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:95492000-95502200	Weak transcription	Fetal Intestine Small	intestine
12	chr4:95493000-95498400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:95493200-95540200	Weak transcription	Small Intestine	intestine
14	chr4:95493200-95584800	Weak transcription	Primary B cells from cord blood	blood
15	chr4:95494000-95506200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:95495200-95506800	Weak transcription	Fetal Stomach	stomach
17	chr4:95496000-95501800	Weak transcription	Fetal Lung	lung
18	chr4:95496200-95498600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
19	chr4:95496800-95499800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:95497000-95498400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:95497000-95498600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr4:95497000-95499800	Enhancers	Colon Smooth Muscle	Colon
23	chr4:95497200-95498800	Enhancers	Rectal Smooth Muscle	rectum
24	chr4:95497200-95500200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:95497200-95500600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:95497200-95506400	Weak transcription	Left Ventricle	heart
27	chr4:95497200-95506800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:95497200-95506800	Weak transcription	Psoas Muscle	Psoas
29	chr4:95497200-95507400	Weak transcription	Primary T cells from cord blood	blood
30	chr4:95497200-95511000	Weak transcription	Ovary	ovary
31	chr4:95497200-95512600	Weak transcription	Aorta	Aorta
32	chr4:95497200-95512600	Weak transcription	Pancreas	Pancrea
33	chr4:95497200-95513800	Weak transcription	Right Ventricle	heart
34	chr4:95497200-95516200	Weak transcription	Right Atrium	heart
35	chr4:95497200-95520000	Weak transcription	Spleen	Spleen
36	chr4:95497200-95524600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:95497200-95524600	Weak transcription	Gastric	stomach
38	chr4:95497200-95524600	Weak transcription	Lung	lung
39	chr4:95497200-95526000	Weak transcription	Brain Angular Gyrus	brain
40	chr4:95497200-95553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:95497200-95569400	Weak transcription	Esophagus	oesophagus
42	chr4:95497400-95498400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:95497400-95498400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr4:95497400-95498800	Enhancers	HUVEC	blood vessel
45	chr4:95497400-95499400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:95497400-95499600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:95497400-95502400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr4:95497400-95505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr4:95497400-95505000	Weak transcription	Brain Substantia Nigra	brain
50	chr4:95497400-95506000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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