Variant report

Variant	esv1836697
Chromosome Location	chr4:78172733-78189012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78182930..78185790-chr4:78187841..78189605,2	K562	blood:
2	chr4:78182930..78185790-chr4:78187841..78189605,2	K562	blood:
3	chr4:78177354..78179710-chr4:78180664..78183643,2	MCF-7	breast:
4	chr4:78177354..78179710-chr4:78180664..78183643,2	MCF-7	breast:
5	chr4:78174499..78176837-chr4:78205161..78207032,2	MCF-7	breast:

Extended variants
information (count: 631 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:631 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4417998	chr4:78172733-78172734	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545624673	chr4:78172734-78172735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77617713	chr4:78172779-78172780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191647147	chr4:78172783-78172784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542086822	chr4:78172804-78172805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561623580	chr4:78172808-78172809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527596902	chr4:78172809-78172810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371019385	chr4:78172862-78172863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547150982	chr4:78172866-78172867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2216632	chr4:78172867-78172868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533249017	chr4:78172869-78172870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550040437	chr4:78172888-78172889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4254804	chr4:78172923-78172924	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535452636	chr4:78172925-78172926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115914111	chr4:78172930-78172931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184154409	chr4:78172941-78172942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535338712	chr4:78172945-78172946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72866414	chr4:78172958-78172959	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs578234440	chr4:78172983-78172984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546742428	chr4:78175005-78175006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560361383	chr4:78175074-78175075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528161872	chr4:78175084-78175085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188344831	chr4:78175108-78175109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4859762	chr4:78175112-78175113	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs140738986	chr4:78175118-78175119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550322530	chr4:78175158-78175159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192810536	chr4:78175159-78175160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72648545	chr4:78175169-78175170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185320338	chr4:78175180-78175181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553201870	chr4:78175229-78175230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149953998	chr4:78175232-78175233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539121109	chr4:78175252-78175253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559039333	chr4:78175261-78175262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575663901	chr4:78175286-78175287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs58058380	chr4:78175301-78175302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544552403	chr4:78175312-78175313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79811032	chr4:78175313-78175314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574788915	chr4:78175315-78175316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540562858	chr4:78175338-78175339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560295450	chr4:78175348-78175349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144189369	chr4:78175369-78175370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11728266	chr4:78175384-78175385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564961062	chr4:78175393-78175394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530531500	chr4:78175404-78175405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4241613	chr4:78175408-78175409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187643595	chr4:78175414-78175415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530008416	chr4:78175416-78175417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372602446	chr4:78175438-78175439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566651037	chr4:78175462-78175463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538800326	chr4:78175485-78175486	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78170400-78173000	Enhancers	Pancreas	Pancrea
2	chr4:78175000-78176000	Enhancers	Placenta	Placenta
3	chr4:78176000-78176800	Weak transcription	Placenta	Placenta
4	chr4:78176000-78177000	Enhancers	Fetal Intestine Small	intestine
5	chr4:78176800-78177600	Enhancers	Placenta	Placenta
6	chr4:78180000-78190200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:78181000-78181400	Enhancers	Adipose Nuclei	Adipose
8	chr4:78181400-78182400	Weak transcription	Adipose Nuclei	Adipose
9	chr4:78182400-78182600	Enhancers	Adipose Nuclei	Adipose
10	chr4:78184400-78184800	Enhancers	Placenta	Placenta
11	chr4:78184800-78186200	Weak transcription	Placenta	Placenta
12	chr4:78186200-78186600	Enhancers	HMEC	breast
13	chr4:78186200-78186800	Enhancers	Placenta	Placenta
14	chr4:78186600-78190400	Weak transcription	HMEC	breast
15	chr4:78186800-78188600	Weak transcription	Placenta	Placenta
16	chr4:78188600-78190600	Enhancers	Placenta	Placenta

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