Variant report

Variant	esv3475105
Chromosome Location	chr6:13434305-13434823
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	chr6:13430517..13435196-chr6:13435654..13440896,5	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570630706	chr6:13434325-13434326	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs539220279	chr6:13434347-13434348	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs553249374	chr6:13434365-13434366	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs573146996	chr6:13434376-13434377	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs201363303	chr6:13434397-13434398	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs376039763	chr6:13434418-13434419	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112983536	chr6:13434449-13434450	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs56100435	chr6:13434452-13434453	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs535725228	chr6:13434522-13434523	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555437114	chr6:13434536-13434537	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs140485418	chr6:13434543-13434544	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575307408	chr6:13434561-13434562	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs56144320	chr6:13434562-13434563	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs9349618	chr6:13434581-13434582	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563983210	chr6:13434615-13434616	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs149754905	chr6:13434617-13434618	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs540441414	chr6:13434623-13434624	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs560712755	chr6:13434634-13434635	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs373429911	chr6:13434741-13434742	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs112077095	chr6:13434772-13434773	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs11752909	chr6:13434799-13434800	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs11753385	chr6:13434803-13434804	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs11753386	chr6:13434813-13434814	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
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
Autism	22495311	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
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
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	16790693	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13428600-13434400	Enhancers	Right Atrium	heart
2	chr6:13428800-13451200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:13429000-13436000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:13429200-13436200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:13429400-13434600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr6:13429600-13435400	Weak transcription	Small Intestine	intestine
7	chr6:13429800-13436600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:13429800-13436600	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:13430000-13436600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:13430000-13437800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:13430000-13445000	Weak transcription	NHEK	skin
12	chr6:13430600-13435800	Enhancers	Primary B cells from peripheral blood	blood
13	chr6:13430800-13436400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr6:13431000-13434600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:13431600-13434400	Enhancers	Fetal Thymus	thymus
16	chr6:13431800-13435600	Enhancers	Adipose Nuclei	Adipose
17	chr6:13432000-13434400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr6:13432000-13434600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr6:13432000-13436200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:13432200-13434600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:13432200-13436000	Enhancers	Left Ventricle	heart
22	chr6:13432200-13436200	Enhancers	Spleen	Spleen
23	chr6:13432200-13438200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr6:13432400-13435200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:13432600-13434800	Enhancers	Primary hematopoietic stem cells	blood
26	chr6:13432600-13435000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:13432600-13435800	Weak transcription	A549	lung
28	chr6:13432600-13445400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:13432800-13438200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:13433000-13434400	Enhancers	Pancreas	Pancrea
31	chr6:13433000-13435200	Weak transcription	Liver	Liver
32	chr6:13433000-13435600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:13433000-13438200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr6:13433000-13454000	Weak transcription	Hela-S3	cervix
35	chr6:13433200-13434400	Enhancers	Primary B cells from cord blood	blood
36	chr6:13433200-13434800	Weak transcription	HepG2	liver
37	chr6:13433200-13435800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:13433200-13436200	Weak transcription	NHLF	lung
39	chr6:13433200-13437000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:13433200-13437000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:13433200-13437200	Weak transcription	Thymus	Thymus
42	chr6:13433200-13437200	Weak transcription	K562	blood
43	chr6:13433200-13440000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:13433200-13440200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:13433200-13442000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:13433200-13445200	Weak transcription	Brain Angular Gyrus	brain
47	chr6:13433400-13434600	Enhancers	Psoas Muscle	Psoas
48	chr6:13433400-13436800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:13433600-13434400	Enhancers	Esophagus	oesophagus
50	chr6:13433600-13434400	Enhancers	Fetal Heart	heart

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