Variant report

Variant	esv3429202
Chromosome Location	chr4:147205102-147209400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147209226..147212026-chr4:147214111..147217530,3	MCF-7	breast:
2	chr4:147207605..147209216-chr4:147213050..147215531,2	K562	blood:
3	chr4:147204351..147205909-chr4:147214280..147217001,2	K562	blood:

Extended variants
information (count: 222 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142833590	chr4:147205123-147205124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193207558	chr4:147205134-147205135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184780613	chr4:147205174-147205175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139581440	chr4:147205279-147205280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76140455	chr4:147205348-147205349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2062437	chr4:147205438-147205439	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571537278	chr4:147205442-147205443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534704790	chr4:147205500-147205501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73855124	chr4:147205509-147205510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188018999	chr4:147205569-147205570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537766332	chr4:147205573-147205574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557344269	chr4:147205577-147205578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180787148	chr4:147205604-147205605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146705447	chr4:147205608-147205609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545841241	chr4:147205611-147205612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185179514	chr4:147205634-147205635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547217660	chr4:147205655-147205656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72727996	chr4:147205664-147205665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567467098	chr4:147205690-147205691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140223246	chr4:147205727-147205728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534954340	chr4:147205747-147205748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529810369	chr4:147205764-147205765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550050302	chr4:147205826-147205827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189829413	chr4:147205850-147205851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13145354	chr4:147205853-147205854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532427585	chr4:147205870-147205871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551933968	chr4:147205902-147205903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565658840	chr4:147205954-147205955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535921809	chr4:147205960-147205961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534744775	chr4:147205988-147205989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371782562	chr4:147205989-147205990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144010252	chr4:147206002-147206003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144897883	chr4:147206023-147206024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375883086	chr4:147206030-147206031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148994569	chr4:147206040-147206041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557646295	chr4:147206192-147206193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181432243	chr4:147206347-147206348	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540101094	chr4:147206354-147206355	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552980393	chr4:147206372-147206373	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373862586	chr4:147206429-147206430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541939215	chr4:147206441-147206442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558100642	chr4:147206463-147206464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7686137	chr4:147206465-147206466	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574301580	chr4:147206479-147206480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186814188	chr4:147206486-147206487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35510715	chr4:147206487-147206488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563496332	chr4:147206493-147206494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73855125	chr4:147206507-147206508	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191580351	chr4:147206516-147206517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559407512	chr4:147206631-147206632	Weak transcription Strong transcription	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:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147164800-147207200	Weak transcription	Thymus	Thymus
2	chr4:147165000-147207200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:147165200-147207200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:147166000-147207800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:147166800-147207200	Weak transcription	Right Ventricle	heart
6	chr4:147167000-147207200	Weak transcription	Aorta	Aorta
7	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:147167400-147209000	Weak transcription	Ovary	ovary
9	chr4:147174200-147206800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:147174800-147207800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:147175800-147206800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:147176800-147207200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:147177400-147213400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr4:147178200-147207800	Weak transcription	Primary B cells from cord blood	blood
18	chr4:147179000-147207200	Weak transcription	Fetal Stomach	stomach
19	chr4:147179200-147206800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:147179200-147207200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:147179400-147205400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:147179400-147206800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:147179400-147217200	Weak transcription	Left Ventricle	heart
24	chr4:147179600-147214200	Weak transcription	Dnd41	blood
25	chr4:147180400-147206600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:147180400-147233200	Weak transcription	Liver	Liver
27	chr4:147180600-147208200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:147182600-147207200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr4:147184000-147206800	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:147184000-147207200	Weak transcription	Lung	lung
31	chr4:147184600-147207000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:147186600-147212800	Weak transcription	Psoas Muscle	Psoas
33	chr4:147188400-147215200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:147189200-147207600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:147193400-147206400	Weak transcription	Primary T cells from cord blood	blood
36	chr4:147194600-147207200	Weak transcription	Esophagus	oesophagus
37	chr4:147197200-147207200	Weak transcription	Pancreas	Pancrea
38	chr4:147197400-147206200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:147197400-147213200	Weak transcription	K562	blood
40	chr4:147197600-147207200	Weak transcription	Fetal Intestine Large	intestine
41	chr4:147198000-147224000	Weak transcription	Fetal Intestine Small	intestine
42	chr4:147200400-147205200	Weak transcription	GM12878-XiMat	blood
43	chr4:147200600-147206600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:147200800-147207400	Weak transcription	Fetal Kidney	kidney
45	chr4:147201000-147207200	Weak transcription	Fetal Lung	lung
46	chr4:147201000-147224800	Weak transcription	HMEC	breast
47	chr4:147201000-147225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:147201600-147209600	Weak transcription	NH-A	brain
50	chr4:147201600-147214600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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