Variant report

Variant	esv3404856
Chromosome Location	chr6:5530603-5531651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578157275	chr6:5530603-5530604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561719391	chr6:5530630-5530631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116139369	chr6:5530650-5530651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192504552	chr6:5530693-5530694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572624496	chr6:5530744-5530745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183401779	chr6:5530852-5530853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35019332	chr6:5530928-5530929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111838100	chr6:5530930-5530931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561382207	chr6:5530948-5530949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144802243	chr6:5531025-5531026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562436840	chr6:5531103-5531104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115096427	chr6:5531132-5531133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202197878	chr6:5531139-5531140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80321699	chr6:5531180-5531181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566778372	chr6:5531198-5531199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9504426	chr6:5531242-5531243	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6923467	chr6:5531253-5531254	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs374972211	chr6:5531291-5531292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548325523	chr6:5531306-5531307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567690004	chr6:5531318-5531319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191704975	chr6:5531348-5531349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78668274	chr6:5531372-5531373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577999409	chr6:5531385-5531386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539244369	chr6:5531481-5531482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554039950	chr6:5531482-5531483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572585804	chr6:5531499-5531500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542944141	chr6:5531503-5531504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141620473	chr6:5531560-5531561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573345837	chr6:5531572-5531573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146226336	chr6:5531598-5531599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543761330	chr6:5531609-5531610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562604571	chr6:5531617-5531618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184257120	chr6:5531635-5531636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11758527	chr6:5531648-5531649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:98)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5501000-5550600	Weak transcription	Pancreas	Pancrea
2	chr6:5508000-5547400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:5511200-5546400	Weak transcription	Fetal Intestine Small	intestine
4	chr6:5511400-5540200	Weak transcription	Esophagus	oesophagus
5	chr6:5511400-5568200	Weak transcription	Aorta	Aorta
6	chr6:5514000-5537400	Weak transcription	Left Ventricle	heart
7	chr6:5518600-5550000	Weak transcription	Right Ventricle	heart
8	chr6:5522600-5531400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:5522600-5544600	Weak transcription	Ovary	ovary
10	chr6:5522600-5548000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:5522800-5550400	Weak transcription	GM12878-XiMat	blood
12	chr6:5523000-5549000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:5523400-5531200	Weak transcription	Primary T cells from cord blood	blood
14	chr6:5523600-5531400	Weak transcription	Fetal Thymus	thymus
15	chr6:5525200-5547600	Weak transcription	Primary B cells from cord blood	blood
16	chr6:5525400-5531400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:5525800-5531400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:5526200-5531400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:5529000-5546800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:5529400-5530800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:5529800-5530800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:5530200-5531400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:5530200-5531800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:5530400-5537200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:5530400-5540000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:5530400-5541200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:5530400-5542200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:5530600-5542400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:5530800-5536600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:5531000-5542200	Weak transcription	Gastric	stomach
31	chr6:5531200-5532200	Enhancers	Primary T cells from cord blood	blood
32	chr6:5531400-5531600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:5531400-5531600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:5531400-5531600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:5531400-5531600	Enhancers	Placenta	Placenta
36	chr6:5531400-5531600	Enhancers	Fetal Thymus	thymus
37	chr6:5531400-5532600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr6:5531400-5532600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr6:5531600-5532200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:5531600-5546800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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