Variant report

Variant	esv3403991
Chromosome Location	chr4:88300228-88301776
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	POLR2A	chr4:88300335-88300518	Hela-S3	cervix:	n/a	n/a
2	ZNF274	chr4:88300796-88301067	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:88300751..88302443-chr4:88312199..88314936,2	K562	blood:
2	chr4:88293477..88300868-chr4:88308814..88313684,7	K562	blood:
3	chr4:88299456..88302215-chr4:88302964..88305080,2	K562	blood:

Variant related genes	Relation type
HSD17B11	TF binding region
ENSG00000198189	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147008470	chr4:88300283-88300284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192890800	chr4:88300317-88300318	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185485042	chr4:88300403-88300404	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554871440	chr4:88300415-88300416	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542032134	chr4:88300439-88300440	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188697540	chr4:88300440-88300441	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112399155	chr4:88300528-88300529	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111460183	chr4:88300536-88300537	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs9684766	chr4:88300540-88300541	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs116917413	chr4:88300545-88300546	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs76403170	chr4:88300562-88300563	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559404665	chr4:88300601-88300602	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147651572	chr4:88300603-88300604	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142151617	chr4:88300620-88300621	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146014932	chr4:88300624-88300625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112987626	chr4:88300639-88300640	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs537759988	chr4:88300675-88300676	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs9684778	chr4:88300716-88300717	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113121594	chr4:88300735-88300736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535418910	chr4:88300817-88300818	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4331743	chr4:88300826-88300827	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs201405261	chr4:88300841-88300842	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs193289310	chr4:88300854-88300855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568155588	chr4:88300922-88300923	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543688836	chr4:88300925-88300926	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs62319107	chr4:88300935-88300936	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546050636	chr4:88300936-88300937	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs9307034	chr4:88300940-88300941	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62319108	chr4:88300949-88300950	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531524089	chr4:88300950-88300951	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561942506	chr4:88300951-88300952	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs199807847	chr4:88300983-88300984	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372232287	chr4:88300986-88300987	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374599577	chr4:88300990-88300991	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557197931	chr4:88300999-88301000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368308538	chr4:88301006-88301007	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372059409	chr4:88301008-88301009	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs61523111	chr4:88301018-88301019	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533327168	chr4:88301022-88301023	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs61358928	chr4:88301023-88301024	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370319097	chr4:88301024-88301025	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538008432	chr4:88301028-88301029	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368096846	chr4:88301029-88301030	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371702183	chr4:88301032-88301033	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs546098013	chr4:88301038-88301039	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557743967	chr4:88301046-88301047	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201105605	chr4:88301059-88301060	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114056144	chr4:88301088-88301089	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370632741	chr4:88301156-88301157	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs146266790	chr4:88301190-88301191	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	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
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88254800-88311800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:88256200-88310600	Weak transcription	Right Ventricle	heart
3	chr4:88257800-88311800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:88267400-88308000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:88267800-88306000	Weak transcription	Fetal Brain Female	brain
6	chr4:88274400-88303400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr4:88276200-88311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:88276400-88302800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:88282600-88303200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:88287400-88308000	Weak transcription	Spleen	Spleen
11	chr4:88290400-88305600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:88290800-88301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:88291000-88306000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:88291000-88309000	Weak transcription	Right Atrium	heart
15	chr4:88293000-88304800	Weak transcription	Brain Germinal Matrix	brain
16	chr4:88293000-88306800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:88293000-88307200	Weak transcription	Pancreas	Pancrea
18	chr4:88293000-88307600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:88293000-88308000	Weak transcription	Colonic Mucosa	Colon
20	chr4:88293000-88308800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:88293000-88309600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:88293000-88311200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:88293200-88302000	Weak transcription	Ovary	ovary
24	chr4:88293200-88308000	Weak transcription	Left Ventricle	heart
25	chr4:88293200-88309600	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:88293200-88309600	Weak transcription	Gastric	stomach
27	chr4:88293200-88311400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:88293400-88304800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:88293400-88308000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:88293400-88309800	Weak transcription	Brain Anterior Caudate	brain
31	chr4:88294000-88300800	Weak transcription	Fetal Brain Male	brain
32	chr4:88294000-88302200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:88294000-88309400	Weak transcription	NHLF	lung
34	chr4:88294000-88309600	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:88294000-88311000	Weak transcription	HSMM	muscle
36	chr4:88294200-88302400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:88294200-88304800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:88294200-88307200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:88294200-88310800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:88294400-88303000	Weak transcription	Fetal Lung	lung
41	chr4:88294600-88308000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:88294800-88302400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr4:88294800-88303000	Weak transcription	Small Intestine	intestine
44	chr4:88294800-88308000	Weak transcription	Lung	lung
45	chr4:88294800-88309400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr4:88295000-88302400	Weak transcription	Primary T cells from cord blood	blood
47	chr4:88295000-88305600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:88295000-88305800	Weak transcription	Brain Angular Gyrus	brain
49	chr4:88295000-88308000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:88295200-88302400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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