Variant report

Variant	esv3419646
Chromosome Location	chr4:151410152-151411550
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	chr4:151411373..151413789-chr4:151414045..151416361,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553154156	chr4:151410168-151410169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573007075	chr4:151410186-151410187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376731524	chr4:151410219-151410220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535422446	chr4:151410231-151410232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565730615	chr4:151410241-151410242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188166921	chr4:151410283-151410284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111216235	chr4:151410298-151410299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192920974	chr4:151410303-151410304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184593311	chr4:151410307-151410308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149584421	chr4:151410319-151410320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375228848	chr4:151410320-151410321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368385913	chr4:151410327-151410328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372286850	chr4:151410329-151410330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371757513	chr4:151410330-151410331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144986583	chr4:151410351-151410352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200610697	chr4:151410361-151410362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189140199	chr4:151410377-151410378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555372710	chr4:151410380-151410381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147003210	chr4:151410415-151410416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376041445	chr4:151410417-151410418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192054872	chr4:151410439-151410440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369009778	chr4:151410441-151410442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575897131	chr4:151410444-151410445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111216488	chr4:151410457-151410458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376529900	chr4:151410463-151410464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564295749	chr4:151410473-151410474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185035625	chr4:151410531-151410532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370096307	chr4:151410545-151410546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540425671	chr4:151410547-151410548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189394425	chr4:151410555-151410556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181007750	chr4:151410569-151410570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186063748	chr4:151410579-151410580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188979117	chr4:151410593-151410594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181399952	chr4:151410603-151410604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540768098	chr4:151410614-151410615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186211969	chr4:151410617-151410618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374375133	chr4:151410627-151410628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561491781	chr4:151410650-151410651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376811829	chr4:151410666-151410667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111216382	chr4:151410684-151410685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9760903	chr4:151410691-151410692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71635780	chr4:151410706-151410707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9761768	chr4:151410716-151410717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9760905	chr4:151410717-151410718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371020460	chr4:151410732-151410733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376873371	chr4:151410737-151410738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs70941410	chr4:151410741-151410742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547953100	chr4:151410750-151410751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9761772	chr4:151410758-151410759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9760913	chr4:151410759-151410760	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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151356600-151411200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr4:151364600-151414800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:151374400-151419000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:151377000-151412400	Weak transcription	Liver	Liver
5	chr4:151381400-151411400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:151382400-151422400	Weak transcription	Adipose Nuclei	Adipose
7	chr4:151385400-151442200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:151387600-151412600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:151387600-151419000	Weak transcription	K562	blood
10	chr4:151387800-151423000	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:151390600-151411400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:151391800-151411400	Weak transcription	Fetal Intestine Large	intestine
13	chr4:151392200-151413000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:151392200-151414800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:151392200-151424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:151395200-151416800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:151395400-151424000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:151397400-151411000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:151398600-151411200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:151398600-151415000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:151399400-151411200	Weak transcription	GM12878-XiMat	blood
22	chr4:151399400-151411400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:151399600-151413000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr4:151400000-151434200	Weak transcription	Primary T cells from cord blood	blood
25	chr4:151400400-151422000	Weak transcription	Osteobl	bone
26	chr4:151406200-151416200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:151407000-151411200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:151407000-151412600	Weak transcription	Fetal Kidney	kidney
29	chr4:151407200-151411200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:151408400-151411200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:151408400-151413200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:151408400-151413800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr4:151408400-151422200	Weak transcription	Primary B cells from cord blood	blood
34	chr4:151408800-151412600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:151409000-151422000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:151409000-151456600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:151410000-151444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:151411000-151412200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr4:151411200-151411400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr4:151411200-151411600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:151411200-151412000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:151411200-151412000	Strong transcription	GM12878-XiMat	blood
43	chr4:151411200-151412200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:151411200-151412400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:151411400-151412200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:151411400-151412200	Strong transcription	Fetal Intestine Large	intestine

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