Variant report

Variant	esv2759303
Chromosome Location	chr4:172324334-172367611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:172215180..172217206-chr4:172338805..172340584,2	K562	blood:
2	chr4:172358064..172360029-chr4:172362493..172364651,2	MCF-7	breast:
3	chr4:172358064..172360029-chr4:172362493..172364651,2	MCF-7	breast:

Extended variants
information (count: 120 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11934821	chr4:172324334-172324335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552489297	chr4:172324382-172324383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76888167	chr4:172324452-172324453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552742609	chr4:172324469-172324470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533546425	chr4:172324490-172324491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544345195	chr4:172324504-172324505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567264593	chr4:172324542-172324543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536316337	chr4:172324543-172324544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555971961	chr4:172324621-172324622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576228630	chr4:172324626-172324627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375728347	chr4:172324665-172324666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138628415	chr4:172324672-172324673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191335665	chr4:172324707-172324708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572332370	chr4:172324740-172324741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541455086	chr4:172324749-172324750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561310214	chr4:172324779-172324780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75456121	chr4:172324803-172324804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182982379	chr4:172324806-172324807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563618782	chr4:172324812-172324813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563019379	chr4:172324813-172324814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532611727	chr4:172324831-172324832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142811943	chr4:172324839-172324840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559628464	chr4:172324870-172324871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528725442	chr4:172324899-172324900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547098548	chr4:172324907-172324908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10005647	chr4:172324944-172324945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9994038	chr4:172324959-172324960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549895796	chr4:172324976-172324977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569721063	chr4:172324991-172324992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188730303	chr4:172325041-172325042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558753080	chr4:172325046-172325047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193297513	chr4:172325086-172325087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530523157	chr4:172325166-172325167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147401478	chr4:172325172-172325173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112316274	chr4:172325180-172325181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139590226	chr4:172325199-172325200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184975202	chr4:172325201-172325202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143523730	chr4:172325242-172325243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17199134	chr4:172325253-172325254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190264269	chr4:172325291-172325292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546002372	chr4:172325294-172325295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143903147	chr4:172325318-172325319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535384069	chr4:172325370-172325371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375469686	chr4:172325405-172325406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528638692	chr4:172325406-172325407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112838052	chr4:172325435-172325436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562242016	chr4:172325443-172325444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34867138	chr4:172325479-172325480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111613629	chr4:172325480-172325481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148614525	chr4:172325522-172325523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172322400-172326400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:172326000-172326600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:172326400-172326600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr4:172326600-172327400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:172327400-172327600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:172367400-172368800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:172367600-172368600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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