Variant report

Variant	esv14749
Chromosome Location	chr4:106577867-106583120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106575884..106578355-chr4:106580539..106582862,2	K562	blood:
2	chr4:106577459..106579904-chr4:106585489..106587073,2	K562	blood:
3	chr4:106575884..106578355-chr4:106580539..106582862,2	K562	blood:

Extended variants
information (count: 231 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:231 , 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	rs550080212	chr4:106577874-106577875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191412460	chr4:106577878-106577879	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535727814	chr4:106577884-106577885	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139898447	chr4:106577889-106577890	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546032732	chr4:106577943-106577944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143395263	chr4:106578009-106578010	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10452180	chr4:106578044-106578045	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184405924	chr4:106578064-106578065	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370991423	chr4:106578081-106578082	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369791820	chr4:106578120-106578121	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62320291	chr4:106578139-106578140	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577133448	chr4:106578140-106578141	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4699192	chr4:106578151-106578152	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs545786491	chr4:106578174-106578175	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189335596	chr4:106578181-106578182	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558234384	chr4:106578185-106578186	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199591149	chr4:106578206-106578207	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200343666	chr4:106578208-106578209	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377360666	chr4:106578209-106578210	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200254310	chr4:106578260-106578261	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574848103	chr4:106578265-106578266	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576432405	chr4:106578271-106578272	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541752591	chr4:106578297-106578298	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561763010	chr4:106578306-106578307	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527249135	chr4:106578309-106578310	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541121456	chr4:106578355-106578356	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563992909	chr4:106578370-106578371	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117866657	chr4:106578392-106578393	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549992643	chr4:106578428-106578429	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569914316	chr4:106578453-106578454	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542264817	chr4:106578475-106578476	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544938104	chr4:106578546-106578547	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182128367	chr4:106578617-106578618	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372426127	chr4:106578656-106578657	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566068448	chr4:106578690-106578691	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555921103	chr4:106578700-106578701	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534680698	chr4:106578705-106578706	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374146745	chr4:106578749-106578750	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148598283	chr4:106578750-106578751	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1982346	chr4:106578754-106578755	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
41	rs189221666	chr4:106578755-106578756	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112816956	chr4:106578757-106578758	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146264732	chr4:106578765-106578766	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556442427	chr4:106578844-106578845	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181598596	chr4:106578857-106578858	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535746359	chr4:106578886-106578887	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200910688	chr4:106579025-106579026	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185822156	chr4:106579064-106579065	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572178810	chr4:106579065-106579066	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190190806	chr4:106579097-106579098	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106559400-106580000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:106559400-106580200	Weak transcription	Fetal Intestine Small	intestine
3	chr4:106559400-106602800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:106569800-106600400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:106574400-106585400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:106576600-106581400	Strong transcription	Fetal Intestine Large	intestine
7	chr4:106577800-106578200	Strong transcription	Pancreas	Pancrea
8	chr4:106577800-106578600	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr4:106577800-106579200	Enhancers	NHEK	skin
10	chr4:106578000-106578600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:106578000-106579000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:106578200-106579200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:106578200-106588200	Weak transcription	Pancreas	Pancrea
14	chr4:106578600-106580200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:106578600-106607000	Weak transcription	Small Intestine	intestine
16	chr4:106578800-106579400	Enhancers	HMEC	breast
17	chr4:106579000-106580600	Enhancers	Stomach Mucosa	stomach
18	chr4:106580000-106580400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:106580200-106580400	Strong transcription	Fetal Intestine Small	intestine
20	chr4:106580200-106580600	Enhancers	Gastric	stomach
21	chr4:106580200-106580600	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr4:106580400-106603400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:106580400-106613200	Weak transcription	Fetal Intestine Small	intestine
24	chr4:106580600-106588600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:106580600-106593800	Weak transcription	Gastric	stomach
26	chr4:106581400-106588200	Weak transcription	Fetal Intestine Large	intestine

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