Variant report

Variant	esv3429218
Chromosome Location	chr4:151409502-151412000
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:
2	chr4:151411570..151413992-chr4:151416571..151418811,2	MCF-7	breast:

Extended variants
information (count: 125 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62344698	chr4:151409535-151409536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568772571	chr4:151409568-151409569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145438749	chr4:151409594-151409595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557288200	chr4:151409629-151409630	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577252760	chr4:151409674-151409675	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546011211	chr4:151409677-151409678	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553331351	chr4:151409682-151409683	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572944680	chr4:151409720-151409721	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541832727	chr4:151409801-151409802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77303886	chr4:151409852-151409853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576108697	chr4:151409861-151409862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548832522	chr4:151409883-151409884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374915179	chr4:151409888-151409889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200305668	chr4:151409899-151409900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35641885	chr4:151409909-151409910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386401861	chr4:151409913-151409914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530727760	chr4:151409918-151409919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371125916	chr4:151409919-151409920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560512676	chr4:151409920-151409921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564151259	chr4:151409923-151409924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573951480	chr4:151409924-151409925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77532739	chr4:151409932-151409933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75325369	chr4:151409935-151409936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148821140	chr4:151409936-151409937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528847020	chr4:151409949-151409950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187635453	chr4:151409998-151409999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568738198	chr4:151410019-151410020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527528930	chr4:151410021-151410022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191420531	chr4:151410044-151410045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564200763	chr4:151410048-151410049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113325252	chr4:151410077-151410078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571007057	chr4:151410091-151410092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539916351	chr4:151410103-151410104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561605619	chr4:151410111-151410112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184433486	chr4:151410126-151410127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553154156	chr4:151410168-151410169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573007075	chr4:151410186-151410187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376731524	chr4:151410219-151410220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535422446	chr4:151410231-151410232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565730615	chr4:151410241-151410242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188166921	chr4:151410283-151410284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111216235	chr4:151410298-151410299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192920974	chr4:151410303-151410304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184593311	chr4:151410307-151410308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149584421	chr4:151410319-151410320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375228848	chr4:151410320-151410321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368385913	chr4:151410327-151410328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372286850	chr4:151410329-151410330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371757513	chr4:151410330-151410331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144986583	chr4:151410351-151410352	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:56 , 50 per page) page: 1 2

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	chr4:151376200-151409600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:151377000-151412400	Weak transcription	Liver	Liver
6	chr4:151380000-151409600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:151381400-151411400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:151382400-151422400	Weak transcription	Adipose Nuclei	Adipose
9	chr4:151384600-151409800	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:151385400-151442200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:151387600-151409800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:151387600-151412600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:151387600-151419000	Weak transcription	K562	blood
14	chr4:151387800-151423000	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:151390600-151411400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:151391800-151411400	Weak transcription	Fetal Intestine Large	intestine
17	chr4:151392200-151413000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:151392200-151414800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:151392200-151424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:151395200-151416800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:151395400-151424000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:151396200-151409600	Weak transcription	Dnd41	blood
23	chr4:151397400-151411000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:151398600-151411200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:151398600-151415000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:151399400-151411200	Weak transcription	GM12878-XiMat	blood
27	chr4:151399400-151411400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:151399600-151413000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr4:151400000-151434200	Weak transcription	Primary T cells from cord blood	blood
30	chr4:151400400-151422000	Weak transcription	Osteobl	bone
31	chr4:151406200-151416200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:151406400-151410000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:151407000-151411200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:151407000-151412600	Weak transcription	Fetal Kidney	kidney
35	chr4:151407200-151411200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:151408400-151411200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:151408400-151413200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr4:151408400-151413800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr4:151408400-151422200	Weak transcription	Primary B cells from cord blood	blood
40	chr4:151408800-151412600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:151409000-151422000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:151409000-151456600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:151409600-151409800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr4:151410000-151444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:151411000-151412200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr4:151411200-151411400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr4:151411200-151411600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:151411200-151412000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr4:151411200-151412000	Strong transcription	GM12878-XiMat	blood
50	chr4:151411200-151412200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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