Variant report

Variant	esv3401886
Chromosome Location	chr4:171880271-171913562
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	chr4:171911858..171912761-chr4:172706205..172707181,4	MCF-7	breast:
2	chr4:171912038..171912871-chr4:172107600..172108526,5	MCF-7	breast:

Extended variants
information (count: 507 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114417378	chr4:171892681-171892682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368550505	chr4:171892682-171892683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112967094	chr4:171892693-171892694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553476790	chr4:171892729-171892730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72704638	chr4:171892742-171892743	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576959626	chr4:171892747-171892748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182127661	chr4:171892748-171892749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559568618	chr4:171892786-171892787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567100605	chr4:171892800-171892801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528775318	chr4:171892812-171892813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186806113	chr4:171892826-171892827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143974041	chr4:171892849-171892850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560896160	chr4:171892857-171892858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529670765	chr4:171892863-171892864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148636911	chr4:171892925-171892926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12643126	chr4:171892942-171892943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12639966	chr4:171892945-171892946	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552390885	chr4:171892985-171892986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375343341	chr4:171892994-171892995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114500560	chr4:171893084-171893085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142075668	chr4:171893121-171893122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72704640	chr4:171893128-171893129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2661918	chr4:171893134-171893135	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2567952	chr4:171893150-171893151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs193225956	chr4:171893166-171893167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185614905	chr4:171893225-171893226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72704641	chr4:171893233-171893234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189190974	chr4:171893236-171893237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76071089	chr4:171893275-171893276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542483992	chr4:171893315-171893316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111648898	chr4:171893317-171893318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34436241	chr4:171893335-171893336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575918612	chr4:171893339-171893340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564643718	chr4:171893341-171893342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543436656	chr4:171893376-171893377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2661917	chr4:171893393-171893394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532204800	chr4:171893411-171893412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147775917	chr4:171893424-171893425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559469541	chr4:171893439-171893440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28464750	chr4:171893441-171893442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28430585	chr4:171893442-171893443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528291201	chr4:171893459-171893460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548400240	chr4:171893470-171893471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149909148	chr4:171893496-171893497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536996489	chr4:171893527-171893528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199499343	chr4:171893549-171893550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370630886	chr4:171893551-171893552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201525320	chr4:171893557-171893558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199664503	chr4:171893559-171893560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7665579	chr4:171893561-171893562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
primary effusion lymphomas	17116491	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
Basal cell lymphoma	17053054	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171892600-171893200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr4:171892800-171893200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:171893200-171901000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:171899800-171901000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:171900000-171900400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:171901000-171901200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:171909000-171909200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:171909000-171909600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:171909200-171912400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:171910600-171910800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:171912400-171912800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:171912400-171913000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:171912400-171913200	Enhancers	Primary hematopoietic stem cells	blood
14	chr4:171912400-171913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:171912400-171913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:171912600-171912800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:171912600-171912800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:171912600-171913000	Enhancers	Gastric	stomach

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