Variant report

Variant	esv3513968
Chromosome Location	chr4:88268125-88274401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr4:88273641-88273978	A549	lung:	n/a	n/a
2	FOXA2	chr4:88273539-88274208	A549	lung:	n/a	n/a
3	POLR2A	chr4:88274216-88274276	K562	blood:	n/a	n/a
4	POLR2A	chr4:88274276-88274373	Hela-S3	cervix:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88274390..88275203-chr4:88387077..88388072,3	K562	blood:
2	chr4:88274380..88275024-chr4:88386955..88387766,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT9-1	chr4:88273499-88273744	expReg_chr4_4651_+

No data

Variant related genes	Relation type
ENSG00000255723	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528066988	chr4:88268202-88268203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184294687	chr4:88268211-88268212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554987506	chr4:88268221-88268222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373127384	chr4:88268256-88268257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55882062	chr4:88268267-88268268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13105267	chr4:88268268-88268269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202008928	chr4:88268269-88268270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56808195	chr4:88268270-88268271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13132871	chr4:88268271-88268272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576651228	chr4:88268282-88268283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs70957224	chr4:88268288-88268289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13105100	chr4:88268289-88268290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7689292	chr4:88268341-88268342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367940270	chr4:88268383-88268384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558733617	chr4:88268432-88268433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113304502	chr4:88268789-88268790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113023408	chr4:88268803-88268804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201211511	chr4:88268920-88268921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202140208	chr4:88269354-88269355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200374579	chr4:88269595-88269596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577377007	chr4:88269996-88269997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372126964	chr4:88270051-88270052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201193178	chr4:88270087-88270088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374272898	chr4:88270178-88270179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368382375	chr4:88271927-88271928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541232052	chr4:88272056-88272057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201927264	chr4:88272228-88272229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372694675	chr4:88272487-88272488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559638611	chr4:88272622-88272623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200354302	chr4:88272632-88272633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11097132	chr4:88273304-88273305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10856863	chr4:88273387-88273388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12374361	chr4:88273413-88273414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11097133	chr4:88273491-88273492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11097134	chr4:88273531-88273532	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs10856864	chr4:88273585-88273586	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs10049866	chr4:88273589-88273590	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs10433938	chr4:88273595-88273596	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs11097135	chr4:88273636-88273637	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs11097136	chr4:88273648-88273649	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs12108406	chr4:88273682-88273683	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs9715070	chr4:88273708-88273709	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs9715485	chr4:88273727-88273728	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs12108532	chr4:88273735-88273736	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs9715063	chr4:88273758-88273759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10433939	chr4:88273763-88273764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12108409	chr4:88273767-88273768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9715064	chr4:88273775-88273776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10433940	chr4:88273784-88273785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11097137	chr4:88273787-88273788	Weak transcription	n/a	n/a	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
Breast cancer	22522925	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

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88253800-88274600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:88254800-88311800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:88255000-88268200	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:88255000-88292400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:88255200-88274400	Weak transcription	GM12878-XiMat	blood
6	chr4:88255200-88285600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:88255200-88293800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:88255800-88278200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:88256000-88274800	Weak transcription	A549	lung
10	chr4:88256200-88292800	Weak transcription	Gastric	stomach
11	chr4:88256200-88310600	Weak transcription	Right Ventricle	heart
12	chr4:88257000-88291000	Weak transcription	HUVEC	blood vessel
13	chr4:88257800-88311800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:88258000-88278000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:88258000-88285400	Weak transcription	Small Intestine	intestine
16	chr4:88259200-88277200	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:88259200-88283000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:88261000-88280000	Weak transcription	Left Ventricle	heart
19	chr4:88261000-88283200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:88261200-88285000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:88262200-88280200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:88262600-88274200	Weak transcription	K562	blood
23	chr4:88262600-88274400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:88263000-88274600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:88263000-88274600	Weak transcription	Colonic Mucosa	Colon
26	chr4:88263000-88277000	Weak transcription	Lung	lung
27	chr4:88263000-88277000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:88263000-88278000	Weak transcription	Stomach Mucosa	stomach
29	chr4:88263000-88280000	Weak transcription	Pancreas	Pancrea
30	chr4:88263200-88281600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:88263600-88274600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:88264000-88277000	Weak transcription	HSMM	muscle
33	chr4:88264200-88285600	Weak transcription	Spleen	Spleen
34	chr4:88264400-88279800	Weak transcription	Hela-S3	cervix
35	chr4:88265800-88268200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:88266000-88268200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr4:88266200-88285000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:88266400-88275000	Weak transcription	Aorta	Aorta
39	chr4:88266400-88278200	Weak transcription	Brain Angular Gyrus	brain
40	chr4:88266400-88292200	Weak transcription	Fetal Brain Male	brain
41	chr4:88266600-88275000	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:88266600-88275200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:88266600-88275200	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:88266600-88278000	Weak transcription	Thymus	Thymus
45	chr4:88266600-88288200	Weak transcription	Brain Germinal Matrix	brain
46	chr4:88267200-88274600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:88267200-88281400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr4:88267400-88274200	Weak transcription	Dnd41	blood
49	chr4:88267400-88274400	Weak transcription	Fetal Lung	lung
50	chr4:88267400-88274400	Weak transcription	Rectal Mucosa Donor 29	rectum

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