Variant report

Variant	esv3364376
Chromosome Location	chr6:35103875-35105623
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	chr6:34924286..34927204-chr6:35101773..35103995,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200759685	chr6:35103893-35103894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529870463	chr6:35103903-35103904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371952210	chr6:35103918-35103919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202046288	chr6:35103950-35103951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374423102	chr6:35103955-35103956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199809733	chr6:35103966-35103967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370605224	chr6:35103968-35103969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549793202	chr6:35103973-35103974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374601449	chr6:35103980-35103981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11539275	chr6:35103991-35103992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564020275	chr6:35104015-35104016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12661389	chr6:35104018-35104019	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7756026	chr6:35104072-35104073	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181557937	chr6:35104118-35104119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565950260	chr6:35104120-35104121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528208924	chr6:35104132-35104133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186190026	chr6:35104150-35104151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568036360	chr6:35104190-35104191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528886585	chr6:35104224-35104225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190646220	chr6:35104249-35104250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201130491	chr6:35104259-35104260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569176507	chr6:35104278-35104279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55829099	chr6:35104293-35104294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181509496	chr6:35104308-35104309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386700109	chr6:35104331-35104332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186480087	chr6:35104333-35104334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191151567	chr6:35104334-35104335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369600291	chr6:35104366-35104367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533946673	chr6:35104432-35104433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62404565	chr6:35104489-35104490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56222941	chr6:35104771-35104772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377264448	chr6:35104934-35104935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370010008	chr6:35104935-35104936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542250969	chr6:35104949-35104950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557075718	chr6:35105060-35105061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575062627	chr6:35105090-35105091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546075956	chr6:35105102-35105103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564408414	chr6:35105112-35105113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528684771	chr6:35105164-35105165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368452869	chr6:35105167-35105168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535492113	chr6:35105203-35105204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561859908	chr6:35105248-35105249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537675951	chr6:35105283-35105284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528975315	chr6:35105347-35105348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550576741	chr6:35105392-35105393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530491204	chr6:35105432-35105433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372795191	chr6:35105445-35105446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550338829	chr6:35105476-35105477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568741146	chr6:35105480-35105481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183867558	chr6:35105496-35105497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21510904	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	17426248	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35103600-35104200	Enhancers	GM12878-XiMat	blood
2	chr6:35103800-35104000	Enhancers	Brain Cingulate Gyrus	brain
3	chr6:35103800-35104000	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr6:35103800-35104000	Enhancers	Ovary	ovary
5	chr6:35103800-35104200	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:35103800-35104200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:35104000-35104200	Enhancers	Adipose Nuclei	Adipose
8	chr6:35104000-35104200	Enhancers	Fetal Lung	lung
9	chr6:35104000-35108600	Weak transcription	Ovary	ovary
10	chr6:35104200-35105400	Weak transcription	Adipose Nuclei	Adipose
11	chr6:35104200-35108000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:35104200-35108000	Weak transcription	Fetal Lung	lung
13	chr6:35104400-35114000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:35105000-35108800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:35105400-35106000	Enhancers	Adipose Nuclei	Adipose
16	chr6:35105400-35106200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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