Variant report

Variant	esv3473862
Chromosome Location	chr6:24324953-24328068
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	chr6:24327848..24330728-chr6:24332422..24334175,2	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113605574	chr6:24324990-24324991	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs567517175	chr6:24324999-24325000	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs536557583	chr6:24325015-24325016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370509553	chr6:24325038-24325039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566798781	chr6:24325062-24325063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539099862	chr6:24325083-24325084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148899707	chr6:24325091-24325092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111539475	chr6:24325109-24325110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374543008	chr6:24325122-24325123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548432411	chr6:24325136-24325137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575350323	chr6:24325161-24325162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144165703	chr6:24325167-24325168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375719582	chr6:24325180-24325181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567160441	chr6:24325197-24325198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115207088	chr6:24325205-24325206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540614207	chr6:24325206-24325207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559301172	chr6:24325207-24325208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572779946	chr6:24325219-24325220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545074419	chr6:24325237-24325238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564944117	chr6:24325264-24325265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115895095	chr6:24325269-24325270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547502860	chr6:24325276-24325277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146524316	chr6:24325364-24325365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531390753	chr6:24325371-24325372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530012741	chr6:24325376-24325377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566757551	chr6:24325443-24325444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578074442	chr6:24325460-24325461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538621387	chr6:24325478-24325479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140975609	chr6:24325499-24325500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368465660	chr6:24325553-24325554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568965581	chr6:24325619-24325620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1417740	chr6:24325627-24325628	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372418519	chr6:24325633-24325634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368228478	chr6:24325638-24325639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74826230	chr6:24325662-24325663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534487233	chr6:24325663-24325664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554204120	chr6:24325665-24325666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13191367	chr6:24325680-24325681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181312430	chr6:24325685-24325686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144788122	chr6:24325699-24325700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537914609	chr6:24325700-24325701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148208189	chr6:24325728-24325729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568347955	chr6:24325768-24325769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575398372	chr6:24325787-24325788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556241500	chr6:24325802-24325803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140245048	chr6:24325804-24325805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12211069	chr6:24325883-24325884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs538623168	chr6:24325906-24325907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546787433	chr6:24325956-24325957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183953595	chr6:24325997-24325998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24316400-24326800	Weak transcription	Pancreas	Pancrea
2	chr6:24322400-24325400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr6:24322600-24325000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:24323200-24325000	Enhancers	NH-A	brain
5	chr6:24323600-24325000	Flanking Active TSS	HepG2	liver
6	chr6:24323600-24325600	Enhancers	A549	lung
7	chr6:24323800-24325400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:24324000-24325400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:24324200-24325000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:24324200-24329400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:24324400-24332000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:24324600-24325400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:24324600-24329200	Weak transcription	NHEK	skin
14	chr6:24324600-24330000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:24324600-24332000	Weak transcription	HMEC	breast
16	chr6:24324600-24332200	Weak transcription	HSMMtube	muscle
17	chr6:24324800-24325000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:24324800-24325000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:24324800-24325200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:24324800-24329000	Weak transcription	Fetal Kidney	kidney
21	chr6:24325000-24325400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr6:24325000-24329000	Weak transcription	NH-A	brain
23	chr6:24325000-24329400	Enhancers	HepG2	liver
24	chr6:24325600-24328200	Weak transcription	A549	lung
25	chr6:24326800-24327400	Enhancers	Pancreas	Pancrea
26	chr6:24327400-24327800	Enhancers	Fetal Brain Female	brain
27	chr6:24327400-24339200	Weak transcription	Pancreas	Pancrea
28	chr6:24327800-24328200	Weak transcription	Fetal Brain Female	brain

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