Variant report

Variant	nsv820500
Chromosome Location	chr4:49092778-49169783
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: 12750 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:12750 , 50 per page) page: 1 2 3 4 5 6 7 ... 255

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547716602	chr4:49092831-49092832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75852726	chr4:49092845-49092846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142863353	chr4:49092867-49092868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573953178	chr4:49092883-49092884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541339512	chr4:49092905-49092906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566223796	chr4:49092924-49092925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559867310	chr4:49092930-49092931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533386446	chr4:49092993-49092994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551840125	chr4:49093010-49093011	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539556518	chr4:49093030-49093031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs547332637	chr4:49093034-49093035	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs563673958	chr4:49093051-49093052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs147426959	chr4:49093061-49093062	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs549352503	chr4:49093062-49093063	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs188326004	chr4:49093077-49093078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs576046488	chr4:49093087-49093088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs138151475	chr4:49093096-49093097	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs116755572	chr4:49093100-49093101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs149509129	chr4:49093157-49093158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs571405020	chr4:49093172-49093173	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs538496866	chr4:49093186-49093187	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs12503138	chr4:49093197-49093198	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574946366	chr4:49093225-49093226	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs535950313	chr4:49093230-49093231	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs75001245	chr4:49093246-49093247	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs140103721	chr4:49093255-49093256	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs62295241	chr4:49093262-49093263	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs74508470	chr4:49093264-49093265	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs62295242	chr4:49093265-49093266	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs201515294	chr4:49093271-49093272	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs62295243	chr4:49093275-49093276	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs202037653	chr4:49093289-49093290	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs370024525	chr4:49093294-49093295	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs76169268	chr4:49093295-49093296	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs373907294	chr4:49093296-49093297	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs374956449	chr4:49093297-49093298	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs201137429	chr4:49093299-49093300	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs78878458	chr4:49093306-49093307	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs202047808	chr4:49093316-49093317	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs368694480	chr4:49093317-49093318	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs373854504	chr4:49093323-49093324	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs377515150	chr4:49093334-49093335	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs370581071	chr4:49093338-49093339	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs373251986	chr4:49093342-49093343	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs377329335	chr4:49093346-49093347	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs62295245	chr4:49093349-49093350	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs189013934	chr4:49093374-49093375	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs62295246	chr4:49093381-49093382	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs201468303	chr4:49093383-49093384	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs370739615	chr4:49093386-49093387	ZNF genes & repeats Flanking Bivalent TSS/Enh	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:1824 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49085400-49093200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:49087400-49093200	Weak transcription	Left Ventricle	heart
3	chr4:49090000-49093200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:49093000-49095200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr4:49093200-49093600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
6	chr4:49093200-49093600	ZNF genes & repeats	Right Atrium	heart
7	chr4:49093200-49093600	ZNF genes & repeats	Osteobl	bone
8	chr4:49093200-49094000	ZNF genes & repeats	Hela-S3	cervix
9	chr4:49093200-49094200	Flanking Bivalent TSS/Enh	Gastric	stomach
10	chr4:49093200-49094600	ZNF genes & repeats	HSMMtube	muscle
11	chr4:49093200-49094600	ZNF genes & repeats	NHEK	skin
12	chr4:49093200-49094800	ZNF genes & repeats	HMEC	breast
13	chr4:49093200-49095000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr4:49093200-49095000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
15	chr4:49093200-49095000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr4:49093200-49095000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
17	chr4:49093200-49095000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
18	chr4:49093200-49095000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
19	chr4:49093200-49095000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr4:49093200-49095000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
21	chr4:49093200-49095000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:49093200-49095000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:49093200-49095000	ZNF genes & repeats	Brain Anterior Caudate	brain
24	chr4:49093200-49095000	ZNF genes & repeats	Brain Hippocampus Middle	brain
25	chr4:49093200-49095000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:49093200-49095000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr4:49093200-49095000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
28	chr4:49093200-49095000	ZNF genes & repeats	Placenta	Placenta
29	chr4:49093200-49095000	ZNF genes & repeats	Fetal Stomach	stomach
30	chr4:49093200-49095000	ZNF genes & repeats	Pancreas	Pancrea
31	chr4:49093200-49095000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
32	chr4:49093200-49095000	ZNF genes & repeats	Small Intestine	intestine
33	chr4:49093200-49095000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr4:49093200-49095000	ZNF genes & repeats	Dnd41	blood
35	chr4:49093200-49095000	ZNF genes & repeats	HUVEC	blood vessel
36	chr4:49093200-49095000	ZNF genes & repeats	K562	blood
37	chr4:49093200-49095000	ZNF genes & repeats	NHDF-Ad	bronchial
38	chr4:49093200-49095200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr4:49093200-49095200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:49093200-49095200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:49093200-49095200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:49093200-49095200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:49093200-49095200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:49093200-49095200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr4:49093200-49095200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr4:49093200-49095200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr4:49093200-49095200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
48	chr4:49093200-49095200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
49	chr4:49093200-49095200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:49093200-49095200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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