Variant report

Variant	esv3420103
Chromosome Location	chr4:151171702-151173500
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	chr4:151171638..151173880-chr4:151176140..151178185,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140593233	chr4:151171712-151171713	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551402398	chr4:151171730-151171731	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569622157	chr4:151171753-151171754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77963286	chr4:151171757-151171758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537791021	chr4:151171777-151171778	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145717225	chr4:151171782-151171783	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553870334	chr4:151171809-151171810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573513804	chr4:151171811-151171812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189678671	chr4:151171832-151171833	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555610673	chr4:151171838-151171839	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568105830	chr4:151171839-151171840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138388446	chr4:151171840-151171841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578157437	chr4:151171873-151171874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540362374	chr4:151171882-151171883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560646937	chr4:151171887-151171888	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529226829	chr4:151171919-151171920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556089840	chr4:151171929-151171930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79231520	chr4:151171943-151171944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531624799	chr4:151171948-151171949	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551730695	chr4:151171952-151171953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372278763	chr4:151171959-151171960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533998522	chr4:151171988-151171989	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374531643	chr4:151171994-151171995	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567375038	chr4:151172005-151172006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62344502	chr4:151172034-151172035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75937245	chr4:151172042-151172043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182734046	chr4:151172060-151172061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186640221	chr4:151172080-151172081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182063198	chr4:151172105-151172106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187019287	chr4:151172121-151172122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189989365	chr4:151172126-151172127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201941506	chr4:151172134-151172135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183730309	chr4:151172208-151172209	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs188319886	chr4:151172212-151172213	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs111216241	chr4:151172228-151172229	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs200273296	chr4:151172253-151172254	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs185544397	chr4:151172257-151172258	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs186948867	chr4:151172273-151172274	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200807542	chr4:151172280-151172281	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs200110174	chr4:151172294-151172295	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs555739932	chr4:151172295-151172296	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs535836712	chr4:151172296-151172297	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559835365	chr4:151172302-151172303	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs562346291	chr4:151172306-151172307	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs569234271	chr4:151172307-151172308	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs192339205	chr4:151172311-151172312	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs191475526	chr4:151172320-151172321	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs111216318	chr4:151172354-151172355	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs111216421	chr4:151172371-151172372	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs111216309	chr4:151172379-151172380	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Glioma	20126413	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151139600-151177400	Weak transcription	Brain Substantia Nigra	brain
2	chr4:151139600-151181000	Weak transcription	Brain Angular Gyrus	brain
3	chr4:151140000-151175000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:151142200-151172200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:151152400-151176400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:151156200-151173000	Weak transcription	Fetal Intestine Small	intestine
7	chr4:151156400-151174200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:151158000-151181000	Weak transcription	Fetal Heart	heart
9	chr4:151158200-151173000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:151159000-151173000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:151160000-151185400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:151161200-151173000	Weak transcription	Brain Anterior Caudate	brain
13	chr4:151161600-151177400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:151164000-151177400	Weak transcription	Placenta	Placenta
15	chr4:151166200-151175000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:151166400-151176400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:151166400-151176600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:151166400-151177800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:151166400-151178000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:151166400-151181000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:151166400-151199000	Weak transcription	Gastric	stomach
22	chr4:151166600-151173000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:151166600-151173200	Weak transcription	Fetal Lung	lung
24	chr4:151166600-151173600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:151166600-151175000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:151166600-151181000	Weak transcription	Fetal Kidney	kidney
27	chr4:151167400-151172000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr4:151167600-151172000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:151167600-151172000	Strong transcription	Brain Germinal Matrix	brain
30	chr4:151167600-151172000	Strong transcription	Fetal Stomach	stomach
31	chr4:151167600-151176600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:151167800-151171800	Strong transcription	Ovary	ovary
33	chr4:151168000-151171800	Strong transcription	Osteobl	bone
34	chr4:151168000-151178000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:151168200-151172000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:151168400-151173000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:151168800-151172000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:151169000-151171800	Strong transcription	Adipose Nuclei	Adipose
39	chr4:151169000-151171800	Strong transcription	NHLF	lung
40	chr4:151169000-151173000	Weak transcription	A549	lung
41	chr4:151169000-151174400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr4:151169400-151171800	Strong transcription	Aorta	Aorta
43	chr4:151169400-151171800	Strong transcription	Fetal Muscle Leg	muscle
44	chr4:151169800-151172000	Strong transcription	Spleen	Spleen
45	chr4:151169800-151172400	Weak transcription	HSMM	muscle
46	chr4:151169800-151181000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr4:151170000-151173600	Weak transcription	Left Ventricle	heart
48	chr4:151170000-151174000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:151170000-151187000	Weak transcription	NH-A	brain
50	chr4:151170000-151199000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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