Variant report

Variant	esv3521898
Chromosome Location	chr6:29763303-29763531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:29760873..29763751-chr6:29786445..29789008,2	MCF-7	breast:
2	chr6:29763208..29764709-chr6:29776682..29778485,2	MCF-7	breast:
3	chr6:29762168..29764765-chr6:29782319..29784097,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78960639	chr6:29763303-29763304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9258407	chr6:29763307-29763308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13437595	chr6:29763308-29763309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9258408	chr6:29763311-29763312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201683757	chr6:29763315-29763316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58553945	chr6:29763316-29763317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs572637121	chr6:29763318-29763319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9258410	chr6:29763320-29763321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs9258411	chr6:29763324-29763325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9258412	chr6:29763328-29763329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9258413	chr6:29763332-29763333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9258414	chr6:29763336-29763337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9258415	chr6:29763340-29763341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9258416	chr6:29763344-29763345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9258417	chr6:29763348-29763349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9258418	chr6:29763352-29763353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9258419	chr6:29763356-29763357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs9258420	chr6:29763360-29763361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540841151	chr6:29763364-29763365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189795868	chr6:29763365-29763366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376962816	chr6:29763367-29763368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9258421	chr6:29763368-29763369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185057775	chr6:29763372-29763373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191040145	chr6:29763375-29763376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546856689	chr6:29763376-29763377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9258422	chr6:29763389-29763390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566693858	chr6:29763391-29763392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544562045	chr6:29763393-29763394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58686029	chr6:29763403-29763404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370134018	chr6:29763421-29763422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539020039	chr6:29763480-29763481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563224619	chr6:29763496-29763497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374513563	chr6:29763503-29763504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9258423	chr6:29763510-29763511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578105416	chr6:29763515-29763516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545654678	chr6:29763516-29763517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9258427	chr6:29763526-29763527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9258428	chr6:29763530-29763531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29760400-29764400	Weak transcription	Hela-S3	cervix
2	chr6:29761000-29765200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:29761200-29763800	Weak transcription	HMEC	breast
4	chr6:29761200-29763800	Weak transcription	NHEK	skin
5	chr6:29761200-29764400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:29761400-29763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:29761800-29766200	Weak transcription	Pancreas	Pancrea
8	chr6:29762200-29764600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:29763000-29763800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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