Variant report

Variant	esv2581662
Chromosome Location	chr4:48660853-48662311
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	chr4:48659520..48661722-chr4:48662309..48664640,2	MCF-7	breast:
2	chr4:48659520..48661722-chr4:48662309..48664640,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144304286	chr4:48660858-48660859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577157514	chr4:48660865-48660866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552433127	chr4:48660873-48660874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78930849	chr4:48660882-48660883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1702800	chr4:48660885-48660886	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537838195	chr4:48660902-48660903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145222129	chr4:48660919-48660920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181952998	chr4:48660968-48660969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535536426	chr4:48660992-48660993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553945056	chr4:48661023-48661024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376051976	chr4:48661080-48661081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149144132	chr4:48661106-48661107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143219374	chr4:48661122-48661123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558076476	chr4:48661226-48661227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148293471	chr4:48661236-48661237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373097623	chr4:48661240-48661241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113031811	chr4:48661242-48661243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80238141	chr4:48661285-48661286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185131611	chr4:48661293-48661294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111981348	chr4:48661299-48661300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191124275	chr4:48661305-48661306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369196824	chr4:48661322-48661323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552491301	chr4:48661327-48661328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142759535	chr4:48661390-48661391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6815954	chr4:48661395-48661396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200639119	chr4:48661401-48661402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564435805	chr4:48661403-48661404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532538091	chr4:48661405-48661406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6837907	chr4:48661407-48661408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6815966	chr4:48661410-48661411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201399694	chr4:48661426-48661427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6815980	chr4:48661432-48661433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111445452	chr4:48661438-48661439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111274474	chr4:48661465-48661466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369887129	chr4:48661472-48661473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182839028	chr4:48661495-48661496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199764531	chr4:48661503-48661504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200522968	chr4:48661518-48661519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372098259	chr4:48661524-48661525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369746620	chr4:48661531-48661532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370044949	chr4:48661546-48661547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149915944	chr4:48661548-48661549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112327330	chr4:48661550-48661551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111938994	chr4:48661551-48661552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531838353	chr4:48661623-48661624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549770029	chr4:48661624-48661625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568325998	chr4:48661638-48661639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535965208	chr4:48661639-48661640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563067741	chr4:48661750-48661751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376069693	chr4:48661831-48661832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48637800-48664200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:48638000-48663000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:48638000-48664600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr4:48638400-48686200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:48638600-48666000	Weak transcription	Primary B cells from cord blood	blood
7	chr4:48645200-48679400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:48645400-48663400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:48645400-48664200	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:48645600-48664200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:48648800-48669200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:48653000-48666800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:48653000-48667600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:48653200-48665800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:48653400-48669200	Weak transcription	Gastric	stomach
16	chr4:48653800-48664600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:48654400-48669600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:48655800-48685600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr4:48656200-48664200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:48656200-48667600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:48656200-48670400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:48656600-48662000	Weak transcription	Small Intestine	intestine
23	chr4:48656600-48662400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:48656600-48665600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr4:48656600-48665800	Weak transcription	NHEK	skin
26	chr4:48656600-48666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:48656600-48667600	Weak transcription	Left Ventricle	heart
28	chr4:48656600-48667800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:48656600-48667800	Weak transcription	Primary T cells from cord blood	blood
30	chr4:48656600-48667800	Weak transcription	Psoas Muscle	Psoas
31	chr4:48656600-48669800	Weak transcription	Esophagus	oesophagus
32	chr4:48656600-48674200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:48656600-48680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:48657000-48666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:48657000-48666400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:48657200-48662000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:48657200-48662200	Weak transcription	Brain Anterior Caudate	brain
38	chr4:48657200-48663600	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:48657400-48662200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr4:48657400-48662400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:48657400-48663600	Weak transcription	Fetal Lung	lung
42	chr4:48657400-48664600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr4:48657400-48667000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr4:48657400-48667800	Weak transcription	Aorta	Aorta
45	chr4:48657400-48686000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:48657400-48688600	Weak transcription	Brain Angular Gyrus	brain
47	chr4:48657600-48662200	Weak transcription	Brain Substantia Nigra	brain
48	chr4:48657600-48662600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr4:48657600-48662800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:48657600-48663600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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