Variant report

Variant	esv3375535
Chromosome Location	chr6:2277665-2278181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71552112	chr6:2277675-2277676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545073412	chr6:2277679-2277680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138128552	chr6:2277706-2277707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149548075	chr6:2277722-2277723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182504698	chr6:2277761-2277762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551083263	chr6:2277774-2277775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561391132	chr6:2277781-2277782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570985651	chr6:2277786-2277787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568986159	chr6:2277811-2277812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397936466	chr6:2277834-2277835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530282685	chr6:2277885-2277886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9501822	chr6:2277888-2277889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567167535	chr6:2277910-2277911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188463017	chr6:2277912-2277913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550238560	chr6:2277916-2277917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569168854	chr6:2277917-2277918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372950984	chr6:2277926-2277927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9328088	chr6:2277951-2277952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9503136	chr6:2277977-2277978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574512730	chr6:2278024-2278025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537463144	chr6:2278037-2278038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141137118	chr6:2278113-2278114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567821711	chr6:2278134-2278135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150749828	chr6:2278166-2278167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Breast cancer	21364760	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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2247800-2284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:2255800-2288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:2262200-2282600	Weak transcription	Small Intestine	intestine
4	chr6:2264000-2279000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:2264400-2285800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:2264600-2286400	Weak transcription	HSMM	muscle
7	chr6:2265600-2278200	Weak transcription	Psoas Muscle	Psoas
8	chr6:2267400-2279800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:2271400-2287600	Weak transcription	Right Ventricle	heart
10	chr6:2273000-2288200	Weak transcription	Aorta	Aorta
11	chr6:2273200-2278800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:2273400-2278200	Weak transcription	GM12878-XiMat	blood
13	chr6:2273400-2282000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:2273600-2281200	Weak transcription	Placenta	Placenta
15	chr6:2273600-2284400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:2273600-2286000	Weak transcription	Fetal Thymus	thymus
17	chr6:2273600-2286600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:2273600-2286600	Weak transcription	Pancreas	Pancrea
19	chr6:2273600-2286800	Weak transcription	Colonic Mucosa	Colon
20	chr6:2273600-2288200	Weak transcription	Spleen	Spleen
21	chr6:2273800-2278200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:2273800-2284000	Weak transcription	Thymus	Thymus
23	chr6:2273800-2288800	Weak transcription	Brain Anterior Caudate	brain
24	chr6:2274000-2283800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:2274200-2286200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:2274400-2278600	Weak transcription	Adipose Nuclei	Adipose
27	chr6:2274400-2278800	Weak transcription	Brain Substantia Nigra	brain
28	chr6:2274400-2283200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:2274400-2283800	Weak transcription	Ovary	ovary
30	chr6:2274400-2284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:2274600-2279400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr6:2274600-2284200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:2274600-2290000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:2274800-2280400	Weak transcription	Primary B cells from cord blood	blood
35	chr6:2275000-2278200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:2275000-2279000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:2275200-2278200	Weak transcription	Liver	Liver
38	chr6:2275200-2283800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr6:2275400-2278600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr6:2275400-2280200	Weak transcription	Fetal Intestine Large	intestine
41	chr6:2275400-2283600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:2275400-2319400	Weak transcription	Gastric	stomach
43	chr6:2275600-2278200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:2275600-2278800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:2275600-2278800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:2275600-2280400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:2275600-2280800	Weak transcription	Fetal Intestine Small	intestine
48	chr6:2275600-2283800	Weak transcription	Left Ventricle	heart
49	chr6:2275800-2283800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr6:2275800-2288200	Weak transcription	Stomach Smooth Muscle	stomach

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