Variant report

Variant	esv3383489
Chromosome Location	chr6:25554834-25555411
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	chr6:25552369..25555196-chr6:25556821..25559327,2	K562	blood:
2	chr6:25553463..25555118-chr6:25558939..25560459,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535022491	chr6:25554905-25554906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557828052	chr6:25554907-25554908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12665001	chr6:25554908-25554909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78975171	chr6:25554911-25554912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543706440	chr6:25554912-25554913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563570739	chr6:25554978-25554979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573908830	chr6:25555062-25555063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369215656	chr6:25555063-25555064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116815612	chr6:25555090-25555091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111907592	chr6:25555099-25555100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188986960	chr6:25555103-25555104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116032717	chr6:25555190-25555191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547408399	chr6:25555199-25555200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373401707	chr6:25555257-25555258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182085266	chr6:25555283-25555284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563921854	chr6:25555338-25555339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12192331	chr6:25555360-25555361	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs572678085	chr6:25555376-25555377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71555200	chr6:25555409-25555410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
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
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
Chronic lymphocytic leukemia	20421269	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25471600-25597200	Weak transcription	Gastric	stomach
2	chr6:25514200-25558400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:25516200-25556800	Weak transcription	Pancreas	Pancrea
4	chr6:25516400-25556800	Weak transcription	Fetal Stomach	stomach
5	chr6:25516800-25606400	Weak transcription	Lung	lung
6	chr6:25519800-25556800	Weak transcription	Ovary	ovary
7	chr6:25522400-25588600	Weak transcription	HMEC	breast
8	chr6:25523000-25577200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:25530800-25584200	Weak transcription	Fetal Intestine Small	intestine
10	chr6:25538600-25563600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:25538600-25592800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:25539000-25561200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:25539200-25582000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:25539600-25556800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:25539600-25565200	Weak transcription	Aorta	Aorta
16	chr6:25539800-25558200	Weak transcription	Thymus	Thymus
17	chr6:25540600-25580200	Weak transcription	Fetal Thymus	thymus
18	chr6:25540800-25556800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:25541400-25558600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:25541400-25576200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr6:25541600-25584400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:25541600-25612000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:25541800-25558400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:25542400-25563600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:25543600-25555600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:25543800-25562000	Weak transcription	Adipose Nuclei	Adipose
27	chr6:25544000-25593600	Weak transcription	Fetal Lung	lung
28	chr6:25544600-25565000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:25547200-25600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:25548800-25557000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:25551400-25555200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:25551400-25559200	Weak transcription	Primary T cells from cord blood	blood
33	chr6:25551400-25565400	Weak transcription	Fetal Intestine Large	intestine
34	chr6:25553200-25556800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:25553800-25565200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:25554200-25563800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:25554400-25558600	Weak transcription	NHDF-Ad	bronchial
38	chr6:25554400-25567600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:25555200-25555600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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