Variant report

Variant	esv11561
Chromosome Location	chr6:163776750-163777745
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	chr6:163757896..163760585-chr6:163774528..163776997,2	MCF-7	breast:
2	chr6:163772638..163774453-chr6:163775997..163777514,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7750721	chr6:163776753-163776754	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148583007	chr6:163776830-163776831	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs181365966	chr6:163776833-163776834	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs735751	chr6:163776851-163776852	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs147566262	chr6:163776852-163776853	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs115326580	chr6:163776873-163776874	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs531017452	chr6:163776911-163776912	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs534008179	chr6:163776930-163776931	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs546008926	chr6:163776942-163776943	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs570585973	chr6:163776993-163776994	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs539259672	chr6:163777054-163777055	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs141944457	chr6:163777071-163777072	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576246501	chr6:163777076-163777077	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs535780132	chr6:163777108-163777109	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539088569	chr6:163777173-163777174	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555377738	chr6:163777175-163777176	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs117796183	chr6:163777206-163777207	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs113747986	chr6:163777214-163777215	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs735752	chr6:163777215-163777216	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs145896109	chr6:163777220-163777221	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs560060883	chr6:163777236-163777237	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs577321866	chr6:163777258-163777259	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs17394560	chr6:163777290-163777291	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs563138878	chr6:163777318-163777319	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs147796567	chr6:163777320-163777321	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs371895965	chr6:163777322-163777323	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs16894839	chr6:163777357-163777358	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs527687359	chr6:163777397-163777398	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs116930607	chr6:163777411-163777412	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs376595313	chr6:163777431-163777432	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs16894845	chr6:163777433-163777434	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs570852038	chr6:163777434-163777435	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs533506760	chr6:163777510-163777511	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs373099131	chr6:163777570-163777571	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs185833293	chr6:163777582-163777583	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs569857520	chr6:163777588-163777589	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs535717348	chr6:163777665-163777666	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs570405237	chr6:163777673-163777674	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs377418612	chr6:163777678-163777679	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562286158	chr6:163777724-163777725	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564698593	chr6:163777729-163777730	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163772200-163778000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:163772200-163778600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:163772400-163778800	Enhancers	Placenta	Placenta
4	chr6:163773400-163776800	Enhancers	Brain Angular Gyrus	brain
5	chr6:163773400-163777600	Enhancers	Fetal Muscle Leg	muscle
6	chr6:163773600-163778000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr6:163775000-163777600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:163775000-163777600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:163775000-163778000	Enhancers	Hela-S3	cervix
10	chr6:163775000-163778400	Enhancers	Fetal Heart	heart
11	chr6:163775200-163777200	Enhancers	Fetal Lung	lung
12	chr6:163775200-163777400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:163775200-163777400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:163775200-163777400	Enhancers	Spleen	Spleen
15	chr6:163775200-163777400	Enhancers	HSMMtube	muscle
16	chr6:163775200-163777800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:163775200-163778000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:163775200-163778000	Enhancers	NHEK	skin
19	chr6:163775200-163778200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:163775200-163778400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:163775200-163778400	Enhancers	Lung	lung
22	chr6:163775400-163777200	Enhancers	Fetal Stomach	stomach
23	chr6:163775400-163777400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:163775400-163777400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:163775400-163777400	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr6:163775600-163777000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr6:163775800-163776800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr6:163775800-163776800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr6:163775800-163776800	Enhancers	Esophagus	oesophagus
30	chr6:163775800-163776800	Active TSS	Rectal Smooth Muscle	rectum
31	chr6:163775800-163777000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:163775800-163777200	Enhancers	Primary hematopoietic stem cells	blood
33	chr6:163775800-163777200	Flanking Active TSS	Osteobl	bone
34	chr6:163775800-163777400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:163775800-163777400	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr6:163775800-163777400	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr6:163775800-163777400	Enhancers	GM12878-XiMat	blood
38	chr6:163775800-163777400	Flanking Active TSS	HUVEC	blood vessel
39	chr6:163775800-163777600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:163775800-163777600	Enhancers	Primary B cells from peripheral blood	blood
41	chr6:163775800-163778000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:163775800-163778000	Enhancers	Left Ventricle	heart
43	chr6:163775800-163778400	Enhancers	Right Atrium	heart
44	chr6:163776000-163777000	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr6:163776000-163777000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr6:163776000-163777000	Flanking Active TSS	HSMM	muscle
47	chr6:163776000-163777200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr6:163776000-163777200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:163776000-163777200	Enhancers	Fetal Thymus	thymus
50	chr6:163776000-163777600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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