Variant report

Variant	esv3409504
Chromosome Location	chr6:166827362-166832060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:166825939..166829623-chr6:166829937..166832545,3	K562	blood:
2	chr6:166825939..166829623-chr6:166829937..166832545,3	K562	blood:
3	chr6:166821049..166824260-chr6:166825235..166828176,3	K562	blood:
4	chr6:166829729..166831737-chr6:166835222..166837361,2	K562	blood:
5	chr6:166822277..166824260-chr6:166826343..166828176,2	K562	blood:

Extended variants
information (count: 260 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140979491	chr6:166827372-166827373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs150228674	chr6:166827378-166827379	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs55949962	chr6:166827396-166827397	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs569916489	chr6:166827411-166827412	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs368787835	chr6:166827413-166827414	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs13206520	chr6:166827414-166827415	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs373005161	chr6:166827416-166827417	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs369975477	chr6:166827431-166827432	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs2235295	chr6:166827436-166827437	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs13206530	chr6:166827437-166827438	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs200129564	chr6:166827440-166827441	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558948192	chr6:166827443-166827444	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs371404017	chr6:166827444-166827445	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs577310220	chr6:166827448-166827449	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs200704358	chr6:166827468-166827469	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs74867625	chr6:166827481-166827482	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs376406184	chr6:166827485-166827486	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs574865598	chr6:166827517-166827518	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs148994455	chr6:166827564-166827565	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs16898907	chr6:166827566-166827567	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs79208638	chr6:166827589-166827590	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs373730655	chr6:166827593-166827594	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs575885231	chr6:166827667-166827668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146719196	chr6:166827690-166827691	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140300034	chr6:166827705-166827706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547104443	chr6:166827743-166827744	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559369635	chr6:166827748-166827749	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145310849	chr6:166827752-166827753	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548719592	chr6:166827837-166827838	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548569123	chr6:166827853-166827854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190922860	chr6:166827869-166827870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73267291	chr6:166827887-166827888	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs146424252	chr6:166827891-166827892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571197917	chr6:166827898-166827899	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534995882	chr6:166827911-166827912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535085418	chr6:166827915-166827916	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553115542	chr6:166827916-166827917	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574842199	chr6:166827942-166827943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535586865	chr6:166827991-166827992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112249344	chr6:166828008-166828009	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs116997684	chr6:166828068-166828069	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs16898909	chr6:166828069-166828070	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183071324	chr6:166828137-166828138	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75271980	chr6:166828159-166828160	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187051032	chr6:166828205-166828206	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559093509	chr6:166828246-166828247	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529744567	chr6:166828261-166828262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541560593	chr6:166828265-166828266	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143022878	chr6:166828278-166828279	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148385981	chr6:166828355-166828356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166797600-166835800	Weak transcription	Right Atrium	heart
2	chr6:166808200-166911800	Weak transcription	Psoas Muscle	Psoas
3	chr6:166814400-166837200	Weak transcription	Fetal Heart	heart
4	chr6:166816600-166833000	Weak transcription	HSMM	muscle
5	chr6:166816800-166832400	Weak transcription	NH-A	brain
6	chr6:166817000-166829000	Weak transcription	NHDF-Ad	bronchial
7	chr6:166817200-166833800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:166820600-166829400	Weak transcription	HSMMtube	muscle
9	chr6:166821000-166832200	Weak transcription	Primary B cells from cord blood	blood
10	chr6:166821600-166829200	Weak transcription	Fetal Kidney	kidney
11	chr6:166821800-166829600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr6:166821800-166833800	Weak transcription	Stomach Mucosa	stomach
13	chr6:166821800-166838600	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr6:166822000-166829000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:166822000-166833800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:166822000-166837200	Strong transcription	Fetal Stomach	stomach
17	chr6:166822000-166838200	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:166822200-166827400	Strong transcription	Brain Germinal Matrix	brain
19	chr6:166822200-166830000	Strong transcription	Brain Cingulate Gyrus	brain
20	chr6:166822200-166836000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:166822200-166837200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:166822200-166838600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:166822400-166838400	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:166822400-166838600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:166822400-166838600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:166822600-166829400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:166822800-166829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:166822800-166829400	Weak transcription	Fetal Brain Male	brain
29	chr6:166822800-166832000	Weak transcription	Aorta	Aorta
30	chr6:166822800-166832800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:166822800-166836200	Weak transcription	Ovary	ovary
32	chr6:166823000-166828600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:166823000-166828800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:166823000-166829400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:166823200-166827800	Strong transcription	Lung	lung
36	chr6:166823400-166829400	Weak transcription	Fetal Lung	lung
37	chr6:166823600-166829400	Weak transcription	Fetal Intestine Large	intestine
38	chr6:166823600-166832200	Weak transcription	Liver	Liver
39	chr6:166823600-166838000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:166823800-166827600	Strong transcription	Brain Anterior Caudate	brain
41	chr6:166823800-166829400	Weak transcription	Small Intestine	intestine
42	chr6:166823800-166833400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:166823800-166835000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:166823800-166836600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:166824000-166827400	Strong transcription	Fetal Intestine Small	intestine
46	chr6:166824000-166828200	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr6:166824000-166829400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:166824000-166829400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:166824000-166829400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr6:166824000-166829400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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