Variant report

Variant	esv3344673
Chromosome Location	chr4:110517203-110520701
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	chr4:110518488..110520568-chr4:110541257..110543563,2	K562	blood:

Extended variants
information (count: 148 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537566539	chr4:110517309-110517310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540380440	chr4:110517330-110517331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557349276	chr4:110517401-110517402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35998464	chr4:110517443-110517444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536294397	chr4:110517455-110517456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369315337	chr4:110517463-110517464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373702742	chr4:110517545-110517546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573088113	chr4:110517663-110517664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs197227	chr4:110517697-110517698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558352642	chr4:110517702-110517703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574960647	chr4:110517740-110517741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532698072	chr4:110517755-110517756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71603037	chr4:110517824-110517825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560502971	chr4:110517826-110517827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201018453	chr4:110517878-110517879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34738167	chr4:110517879-110517880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200799643	chr4:110517880-110517881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201118702	chr4:110517881-110517882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199843081	chr4:110517895-110517896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370979572	chr4:110517896-110517897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529638893	chr4:110517911-110517912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539890899	chr4:110517922-110517923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202185130	chr4:110517957-110517958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11726776	chr4:110518033-110518034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530046486	chr4:110518043-110518044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28650838	chr4:110518085-110518086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528813074	chr4:110518086-110518087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146048183	chr4:110518096-110518097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565485452	chr4:110518105-110518106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548244068	chr4:110518141-110518142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530977060	chr4:110518143-110518144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551089100	chr4:110518220-110518221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567798878	chr4:110518254-110518255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536633547	chr4:110518304-110518305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371629401	chr4:110518327-110518328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546705827	chr4:110518345-110518346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112614720	chr4:110518425-110518426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566731443	chr4:110518437-110518438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530491234	chr4:110518441-110518442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538572823	chr4:110518463-110518464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558289667	chr4:110518494-110518495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs197226	chr4:110518523-110518524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560994303	chr4:110518669-110518670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575100235	chr4:110518687-110518688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571275857	chr4:110518696-110518697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201772489	chr4:110518736-110518737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554235279	chr4:110518780-110518781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574484087	chr4:110518781-110518782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540205287	chr4:110518786-110518787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559917428	chr4:110518822-110518823	Weak transcription	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
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110508800-110523200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:110510600-110522800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:110510800-110524200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:110510800-110530800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:110511000-110521600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:110511000-110527200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:110511400-110524400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:110512200-110519600	Weak transcription	Thymus	Thymus
9	chr4:110512200-110521200	Weak transcription	Dnd41	blood
10	chr4:110512400-110530000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:110512800-110520000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:110512800-110520200	Weak transcription	Primary T cells from cord blood	blood
13	chr4:110512800-110524000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:110512800-110524200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:110513000-110520600	Weak transcription	Fetal Thymus	thymus
16	chr4:110513000-110520800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:110513400-110517600	Weak transcription	Placenta	Placenta
18	chr4:110514600-110519800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:110514800-110519800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:110514800-110520400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:110515400-110519800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:110515600-110519800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:110515600-110520000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:110517600-110517800	Enhancers	Placenta	Placenta
25	chr4:110519600-110519800	Enhancers	Thymus	Thymus
26	chr4:110519800-110520600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
27	chr4:110519800-110521800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr4:110519800-110521800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr4:110519800-110522000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr4:110519800-110524400	Weak transcription	Thymus	Thymus
31	chr4:110520000-110520400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:110520000-110521800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:110520200-110521800	Enhancers	Primary T cells from cord blood	blood
34	chr4:110520200-110521800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr4:110520400-110520600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr4:110520400-110522600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:110520600-110521000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:110520600-110521000	Enhancers	Fetal Thymus	thymus
39	chr4:110520600-110521800	Enhancers	Primary T helper cells PMA-I stimulated	--

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