Variant report

Variant	esv3397255
Chromosome Location	chr4:147207758-147207990
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	chr4:147207605..147209216-chr4:147213050..147215531,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111437999	chr4:147207760-147207761	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs79902441	chr4:147207768-147207769	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs556910926	chr4:147207772-147207773	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs78981884	chr4:147207779-147207780	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77282259	chr4:147207784-147207785	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs112601206	chr4:147207797-147207798	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs75456032	chr4:147207803-147207804	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62327815	chr4:147207804-147207805	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs76473832	chr4:147207808-147207809	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs576935515	chr4:147207811-147207812	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs546141539	chr4:147207821-147207822	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs75392730	chr4:147207827-147207828	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78925156	chr4:147207832-147207833	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs528103888	chr4:147207834-147207835	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs76704381	chr4:147207845-147207846	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200668341	chr4:147207851-147207852	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs75299446	chr4:147207853-147207854	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs77798528	chr4:147207856-147207857	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs74317454	chr4:147207877-147207878	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs75700118	chr4:147207885-147207886	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112525095	chr4:147207901-147207902	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs373786394	chr4:147207906-147207907	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112164286	chr4:147207940-147207941	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs75134813	chr4:147207941-147207942	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs200126141	chr4:147207943-147207944	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs77964938	chr4:147207953-147207954	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201972184	chr4:147207957-147207958	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62327816	chr4:147207975-147207976	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21633010	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147166000-147207800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:147167400-147209000	Weak transcription	Ovary	ovary
4	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:147174800-147207800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:147177400-147213400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:147178200-147207800	Weak transcription	Primary B cells from cord blood	blood
10	chr4:147179400-147217200	Weak transcription	Left Ventricle	heart
11	chr4:147179600-147214200	Weak transcription	Dnd41	blood
12	chr4:147180400-147233200	Weak transcription	Liver	Liver
13	chr4:147180600-147208200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:147186600-147212800	Weak transcription	Psoas Muscle	Psoas
15	chr4:147188400-147215200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:147197400-147213200	Weak transcription	K562	blood
17	chr4:147198000-147224000	Weak transcription	Fetal Intestine Small	intestine
18	chr4:147201000-147224800	Weak transcription	HMEC	breast
19	chr4:147201000-147225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:147201600-147209600	Weak transcription	NH-A	brain
22	chr4:147201600-147214600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:147204000-147220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:147204200-147208400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:147204200-147208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:147204200-147211400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:147204400-147208400	Weak transcription	NHEK	skin
28	chr4:147204600-147209800	Weak transcription	Brain Substantia Nigra	brain
29	chr4:147205600-147207800	Weak transcription	Brain Angular Gyrus	brain
30	chr4:147205600-147207800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:147205600-147208200	Weak transcription	HUVEC	blood vessel
32	chr4:147205600-147211600	Weak transcription	GM12878-XiMat	blood
33	chr4:147205600-147214000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:147205800-147208800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr4:147205800-147208800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr4:147205800-147217600	Weak transcription	Fetal Brain Female	brain
37	chr4:147206000-147216400	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:147206200-147213800	Weak transcription	Placenta	Placenta
39	chr4:147206200-147217600	Weak transcription	Fetal Brain Male	brain
40	chr4:147206200-147225400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:147206400-147210200	Strong transcription	Primary T cells from cord blood	blood
42	chr4:147206600-147208400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:147206600-147208400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:147206800-147208200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr4:147206800-147208200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:147206800-147208200	Strong transcription	Spleen	Spleen
47	chr4:147206800-147208400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:147206800-147209400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr4:147206800-147209400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr4:147206800-147209800	Strong transcription	Primary T cells fromperipheralblood	blood

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