Variant report

Variant	esv3353406
Chromosome Location	chr4:131895396-131918235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72524014..72524697-chr4:131897075..131897575,2	Hela-S3	cervix:
2	chr4:131891594..131894034-chr4:131900622..131902132,2	K562	blood:

Variant related genes	Relation type
ENSG00000067225	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143206123	chr4:131897094-131897095	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546453044	chr4:131897114-131897115	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1948720	chr4:131897140-131897141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530387083	chr4:131897160-131897161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550166101	chr4:131897183-131897184	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189473445	chr4:131897212-131897213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368501397	chr4:131897262-131897263	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182167503	chr4:131897378-131897379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147546186	chr4:131897384-131897385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74480933	chr4:131897418-131897419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs539482836	chr4:131897461-131897462	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77918815	chr4:131897488-131897489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559559043	chr4:131906226-131906227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538193236	chr4:131906283-131906284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112185076	chr4:131906308-131906309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575933489	chr4:131906507-131906508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538502168	chr4:131906509-131906510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369726524	chr4:131906545-131906546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534020331	chr4:131906581-131906582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554268362	chr4:131906603-131906604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541788124	chr4:131906635-131906636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548110017	chr4:131906688-131906689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149613864	chr4:131906700-131906701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376920751	chr4:131906701-131906702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143415150	chr4:131906719-131906720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556394201	chr4:131906730-131906731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183810077	chr4:131906740-131906741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543771506	chr4:131906741-131906742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554255098	chr4:131906747-131906748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574403425	chr4:131906770-131906771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539951550	chr4:131906775-131906776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78418330	chr4:131906793-131906794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558485901	chr4:131906806-131906807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546020056	chr4:131906813-131906814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562740889	chr4:131906815-131906816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531653194	chr4:131906880-131906881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548498938	chr4:131906892-131906893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568340271	chr4:131906903-131906904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527730976	chr4:131906957-131906958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572174571	chr4:131906971-131906972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547534548	chr4:131906992-131906993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540848113	chr4:131906996-131906997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560671718	chr4:131907007-131907008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556354867	chr4:131907026-131907027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7665562	chr4:131907090-131907091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535727750	chr4:131907179-131907180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556075109	chr4:131907203-131907204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574174471	chr4:131907209-131907210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574344489	chr4:131907234-131907235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs193039259	chr4:131907261-131907262	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	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
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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131906200-131907600	Enhancers	HUVEC	blood vessel
2	chr4:131906600-131906800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr4:131906600-131907000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr4:131906600-131907000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:131915200-131915600	Enhancers	Fetal Kidney	kidney
6	chr4:131916600-131917600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:131918200-131918400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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