Variant report

Variant	esv3410053
Chromosome Location	chr6:13167955-13174148
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	chr6:13163839..13166326-chr6:13167451..13169624,2	K562	blood:

Extended variants
information (count: 246 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372774729	chr6:13167991-13167992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546520841	chr6:13168024-13168025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559311727	chr6:13168064-13168065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528426709	chr6:13168091-13168092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548178359	chr6:13168103-13168104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35750414	chr6:13168132-13168133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568185006	chr6:13168143-13168144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78349957	chr6:13168183-13168184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74737789	chr6:13168184-13168185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12195007	chr6:13168304-13168305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549690504	chr6:13168309-13168310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6916503	chr6:13168314-13168315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6932796	chr6:13168333-13168334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114265748	chr6:13168364-13168365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183056202	chr6:13168381-13168382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374976750	chr6:13168384-13168385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534572928	chr6:13168398-13168399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115427747	chr6:13168399-13168400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187392896	chr6:13168400-13168401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9473569	chr6:13168404-13168405	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73371729	chr6:13168425-13168426	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577406116	chr6:13168429-13168430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192337683	chr6:13168430-13168431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9463490	chr6:13168448-13168449	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs573994465	chr6:13168513-13168514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9395497	chr6:13168535-13168536	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs139801651	chr6:13168572-13168573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149530372	chr6:13168581-13168582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144704102	chr6:13168583-13168584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183346659	chr6:13168696-13168697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9473572	chr6:13168698-13168699	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532289139	chr6:13168736-13168737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148505424	chr6:13168767-13168768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9473575	chr6:13168768-13168769	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575294356	chr6:13168801-13168802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16873653	chr6:13168810-13168811	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560922850	chr6:13168835-13168836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568094349	chr6:13168864-13168865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9473576	chr6:13168872-13168873	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556975727	chr6:13168876-13168877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113438965	chr6:13168892-13168893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539993078	chr6:13168913-13168914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553164054	chr6:13168918-13168919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1237055	chr6:13168924-13168925	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9473577	chr6:13168933-13168934	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561739405	chr6:13168934-13168935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575556545	chr6:13168941-13168942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115815401	chr6:13168965-13168966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528770635	chr6:13168969-13168970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533282219	chr6:13169015-13169016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
Acute myeloid leukemia	18000384	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
Metastatic melanoma	18483359	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13150000-13175600	Weak transcription	Lung	lung
2	chr6:13153400-13178000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:13153600-13178200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:13153600-13178200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:13153800-13168000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:13153800-13184200	Weak transcription	Aorta	Aorta
7	chr6:13154000-13175600	Weak transcription	Fetal Heart	heart
8	chr6:13159200-13181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:13159600-13178400	Weak transcription	Right Ventricle	heart
10	chr6:13160000-13171400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:13160000-13177400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:13162400-13175600	Weak transcription	Left Ventricle	heart
13	chr6:13163600-13183400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:13163800-13168400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:13163800-13171400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:13164800-13183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:13164800-13184400	Weak transcription	Pancreas	Pancrea
18	chr6:13166000-13168000	Enhancers	Brain Anterior Caudate	brain
19	chr6:13166600-13175400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:13166600-13177800	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:13166800-13169000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:13168000-13172400	Weak transcription	Brain Anterior Caudate	brain
23	chr6:13168400-13171000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:13169000-13169400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:13169200-13174200	Weak transcription	Fetal Brain Female	brain
26	chr6:13171000-13175600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:13171400-13171800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:13171400-13172000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:13171600-13172000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr6:13171600-13172000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr6:13171800-13175600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:13172000-13175400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:13172400-13173000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:13172400-13173000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:13172400-13173400	Enhancers	Brain Anterior Caudate	brain
36	chr6:13172400-13176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:13172400-13176600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:13172400-13176600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr6:13172600-13172800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr6:13172600-13172800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:13172600-13176800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:13172800-13173000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:13172800-13175600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr6:13172800-13191800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:13173000-13173600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:13173000-13173800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:13173000-13175400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:13173400-13174400	Weak transcription	Brain Anterior Caudate	brain
49	chr6:13173600-13176800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr6:13173800-13174600	Enhancers	HUES6 Cell Line	embryonic stem cell

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