Variant report

Variant	esv2763983
Chromosome Location	chr6:55824452-55843660
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	chr6:55824417..55826728-chr6:55848243..55849781,2	K562	blood:

Extended variants
information (count: 539 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6459119	chr6:55824452-55824453	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532558859	chr6:55824514-55824515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375574169	chr6:55824534-55824535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552400693	chr6:55824539-55824540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141778018	chr6:55824547-55824548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12208505	chr6:55824553-55824554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150579251	chr6:55824599-55824600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6459120	chr6:55824670-55824671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs34132876	chr6:55824678-55824679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369178814	chr6:55824726-55824727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149706505	chr6:55824759-55824760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548410925	chr6:55824796-55824797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192320546	chr6:55824831-55824832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200021063	chr6:55824940-55824941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74685916	chr6:55824941-55824942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534966612	chr6:55824964-55824965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556926924	chr6:55824965-55824966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146580042	chr6:55824966-55824967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371178880	chr6:55824969-55824970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544537258	chr6:55824971-55824972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9382569	chr6:55825005-55825006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574587071	chr6:55825047-55825048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116798550	chr6:55825080-55825081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9396164	chr6:55825100-55825101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576808341	chr6:55825106-55825107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370378713	chr6:55825120-55825121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181920274	chr6:55825137-55825138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60746236	chr6:55825138-55825139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571993028	chr6:55825203-55825204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186165969	chr6:55825211-55825212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190923842	chr6:55825274-55825275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115805037	chr6:55825282-55825283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6902463	chr6:55825297-55825298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572645592	chr6:55825318-55825319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140076334	chr6:55825340-55825341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182137166	chr6:55825420-55825421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542291988	chr6:55825440-55825441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562079461	chr6:55825459-55825460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6922937	chr6:55825495-55825496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561283636	chr6:55825526-55825527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73446213	chr6:55825570-55825571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs80121843	chr6:55825587-55825588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533228074	chr6:55825599-55825600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369089599	chr6:55825600-55825601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370142780	chr6:55825690-55825691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77733702	chr6:55825747-55825748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143619425	chr6:55825786-55825787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386701404	chr6:55825797-55825798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6923318	chr6:55825798-55825799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115690854	chr6:55825830-55825831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55818600-55827600	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:55822600-55824600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:55823400-55828200	Weak transcription	Fetal Stomach	stomach
4	chr6:55823600-55828600	Weak transcription	Fetal Lung	lung
5	chr6:55827600-55828400	Enhancers	Colon Smooth Muscle	Colon
6	chr6:55828200-55828600	Enhancers	Fetal Stomach	stomach
7	chr6:55828400-55833800	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:55828600-55829200	Enhancers	Fetal Lung	lung
9	chr6:55828600-55833400	Weak transcription	Fetal Stomach	stomach
10	chr6:55829200-55833800	Weak transcription	Fetal Lung	lung
11	chr6:55833400-55834200	Enhancers	Fetal Stomach	stomach
12	chr6:55833800-55834000	Enhancers	Colon Smooth Muscle	Colon
13	chr6:55833800-55834800	Enhancers	Fetal Lung	lung
14	chr6:55834000-55834800	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:55834800-55835000	Enhancers	Colon Smooth Muscle	Colon
16	chr6:55835200-55835400	Enhancers	Fetal Heart	heart
17	chr6:55835400-55837000	Weak transcription	Fetal Heart	heart
18	chr6:55837000-55837600	Enhancers	Fetal Heart	heart
19	chr6:55837800-55838600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr6:55839400-55840000	Enhancers	HUVEC	blood vessel
21	chr6:55840800-55841000	Bivalent Enhancer	Lung	lung
22	chr6:55842400-55844000	Enhancers	Fetal Lung	lung

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