Variant report

Variant	esv6688
Chromosome Location	chr4:49109430-49152910
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	chr2:89879085..89879687-chr4:49152239..49152833,2	MCF-7	breast:

Extended variants
information (count: 7422 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:7422 , 50 per page) page: 1 2 3 4 5 6 7 ... 149

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545382574	chr4:49109442-49109443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs111215444	chr4:49109447-49109448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs376323684	chr4:49109450-49109451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs563688855	chr4:49109475-49109476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs78302695	chr4:49109501-49109502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs368464883	chr4:49109512-49109513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs371794765	chr4:49109516-49109517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs111204187	chr4:49109537-49109538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs62636157	chr4:49109541-49109542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs530689240	chr4:49109555-49109556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs549286886	chr4:49109565-49109566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs372837460	chr4:49109572-49109573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs200812156	chr4:49109573-49109574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs375001678	chr4:49109575-49109576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs201518941	chr4:49109576-49109577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs560913393	chr4:49109581-49109582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs377672680	chr4:49109582-49109583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs200338504	chr4:49109584-49109585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs28736836	chr4:49109586-49109587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs376001052	chr4:49109606-49109607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs369660085	chr4:49109610-49109611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs200778941	chr4:49109612-49109613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs186051873	chr4:49109624-49109625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs373124288	chr4:49109626-49109627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs376496263	chr4:49109628-49109629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs370901699	chr4:49109643-49109644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs375536020	chr4:49109646-49109647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs201744780	chr4:49109647-49109648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs368561092	chr4:49109648-49109649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369892111	chr4:49109667-49109668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs111204188	chr4:49109682-49109683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs373830639	chr4:49109686-49109687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376179511	chr4:49109688-49109689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs370968315	chr4:49109693-49109694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs370260007	chr4:49109695-49109696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200215197	chr4:49109705-49109706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs373330136	chr4:49109706-49109707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs62638564	chr4:49109712-49109713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs377548576	chr4:49109717-49109718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs62636158	chr4:49109721-49109722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs62636159	chr4:49109725-49109726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs28812500	chr4:49109726-49109727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs371044598	chr4:49109732-49109733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs111204189	chr4:49109740-49109741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs138142419	chr4:49109745-49109746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200053701	chr4:49109761-49109762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs141017835	chr4:49109767-49109768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs368213371	chr4:49109772-49109773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs367689763	chr4:49109785-49109786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200446958	chr4:49109800-49109801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1341 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49098200-49123400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:49098200-49123400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr4:49098200-49123400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr4:49098200-49123400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr4:49098200-49123600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr4:49098200-49123600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr4:49104200-49123400	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr4:49104200-49123600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr4:49104400-49110800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:49104400-49110800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr4:49104400-49110800	ZNF genes & repeats	Brain Hippocampus Middle	brain
12	chr4:49104400-49110800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr4:49104400-49110800	ZNF genes & repeats	Fetal Kidney	kidney
14	chr4:49104400-49110800	ZNF genes & repeats	Psoas Muscle	Psoas
15	chr4:49104400-49110800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
16	chr4:49104400-49113000	ZNF genes & repeats	Small Intestine	intestine
17	chr4:49104400-49113200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
18	chr4:49104400-49113400	ZNF genes & repeats	Left Ventricle	heart
19	chr4:49104400-49115600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
20	chr4:49104400-49123200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
21	chr4:49104400-49123200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr4:49104400-49123200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:49104400-49123200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:49104400-49123200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
25	chr4:49104400-49123200	ZNF genes & repeats	Fetal Lung	lung
26	chr4:49104400-49123200	ZNF genes & repeats	Pancreas	Pancrea
27	chr4:49104400-49123200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
28	chr4:49104400-49123400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:49104400-49123400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:49104400-49123400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr4:49104400-49123400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:49104400-49123400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:49104400-49123400	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr4:49104400-49123400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:49104400-49123400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:49104400-49123400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:49104400-49123400	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr4:49104400-49123400	ZNF genes & repeats	Liver	Liver
39	chr4:49104400-49123400	ZNF genes & repeats	Brain Anterior Caudate	brain
40	chr4:49104400-49123400	ZNF genes & repeats	Colonic Mucosa	Colon
41	chr4:49104400-49123400	ZNF genes & repeats	Colon Smooth Muscle	Colon
42	chr4:49104400-49123400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr4:49104400-49123400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
44	chr4:49104400-49123400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
45	chr4:49104400-49123400	ZNF genes & repeats	Dnd41	blood
46	chr4:49104400-49123600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr4:49104600-49110800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
48	chr4:49104600-49110800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:49104600-49110800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
50	chr4:49104600-49110800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood

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