Variant report

Variant	esv3405464
Chromosome Location	chr6:151096909-151099607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192160711	chr6:151096965-151096966	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs145336434	chr6:151096989-151096990	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542656300	chr6:151097048-151097049	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556287703	chr6:151097060-151097061	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs576216753	chr6:151097173-151097174	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs544766580	chr6:151097195-151097196	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111303257	chr6:151097230-151097231	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs1055596	chr6:151097239-151097240	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs564689061	chr6:151097259-151097260	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs578169343	chr6:151097260-151097261	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533504763	chr6:151097285-151097286	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs137969537	chr6:151097300-151097301	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs560867494	chr6:151097317-151097318	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs529267296	chr6:151097319-151097320	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs549005791	chr6:151097339-151097340	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs578174153	chr6:151097353-151097354	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs370244374	chr6:151097362-151097363	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs142538006	chr6:151097495-151097496	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs111369800	chr6:151097528-151097529	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs112383010	chr6:151097539-151097540	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112427978	chr6:151097543-151097544	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531714170	chr6:151097565-151097566	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs1178425	chr6:151097583-151097584	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs113147805	chr6:151097604-151097605	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571340163	chr6:151097612-151097613	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9478814	chr6:151097627-151097628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13199556	chr6:151097647-151097648	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13215572	chr6:151097670-151097671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567595103	chr6:151097671-151097672	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111854265	chr6:151097692-151097693	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557836786	chr6:151097708-151097709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112910413	chr6:151097715-151097716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556196207	chr6:151097733-151097734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113563008	chr6:151097736-151097737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113089757	chr6:151097741-151097742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538751544	chr6:151097746-151097747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558718112	chr6:151097749-151097750	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578093063	chr6:151097758-151097759	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111307352	chr6:151097763-151097764	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373806100	chr6:151097770-151097771	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540867769	chr6:151097792-151097793	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377172625	chr6:151097793-151097794	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111526807	chr6:151097807-151097808	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560613488	chr6:151097823-151097824	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13199590	chr6:151097830-151097831	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111659578	chr6:151097831-151097832	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13215720	chr6:151097832-151097833	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377014036	chr6:151097835-151097836	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369673774	chr6:151097841-151097842	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542584310	chr6:151097867-151097868	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:151061600-151112200	Weak transcription	Right Atrium	heart
2	chr6:151086000-151097800	Weak transcription	Lung	lung
3	chr6:151086000-151098000	Weak transcription	Liver	Liver
4	chr6:151086000-151098000	Weak transcription	Spleen	Spleen
5	chr6:151086000-151121400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:151087600-151109200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:151088200-151121400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:151089000-151097000	Weak transcription	Ovary	ovary
9	chr6:151089000-151098000	Weak transcription	Esophagus	oesophagus
10	chr6:151089000-151105200	Weak transcription	Left Ventricle	heart
11	chr6:151089000-151109800	Weak transcription	Fetal Brain Male	brain
12	chr6:151090200-151098000	Weak transcription	Fetal Kidney	kidney
13	chr6:151091000-151125800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:151091400-151099000	Weak transcription	Placenta	Placenta
15	chr6:151092200-151097800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:151093000-151100400	Strong transcription	Primary B cells from cord blood	blood
17	chr6:151093000-151109400	Weak transcription	Fetal Heart	heart
18	chr6:151094200-151105400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:151094800-151097800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:151094800-151098000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:151094800-151098800	Weak transcription	Fetal Stomach	stomach
22	chr6:151095600-151097400	Weak transcription	Adipose Nuclei	Adipose
23	chr6:151095600-151098000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:151096000-151097400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:151096000-151100600	Strong transcription	Fetal Thymus	thymus
26	chr6:151096200-151097000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:151096200-151097000	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:151096200-151097400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:151096200-151097400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:151096200-151097400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:151096200-151097400	Enhancers	HMEC	breast
32	chr6:151096400-151097000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:151096600-151097000	Active TSS	Brain Hippocampus Middle	brain
34	chr6:151096600-151097000	Enhancers	Fetal Lung	lung
35	chr6:151096600-151097200	Enhancers	Brain Angular Gyrus	brain
36	chr6:151096600-151097200	Enhancers	Brain Cingulate Gyrus	brain
37	chr6:151096600-151097200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:151096600-151097200	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr6:151096600-151097400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr6:151096600-151097400	Enhancers	Primary T cells from cord blood	blood
41	chr6:151096600-151097400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:151096600-151097400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:151096600-151097400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr6:151096600-151097400	Enhancers	NH-A	brain
45	chr6:151096600-151097600	Active TSS	Brain Anterior Caudate	brain
46	chr6:151096800-151097000	Enhancers	HUVEC	blood vessel
47	chr6:151096800-151097200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:151096800-151097200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:151096800-151097200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr6:151096800-151097200	Flanking Active TSS	Fetal Brain Female	brain

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