Variant report

Variant	esv3326167
Chromosome Location	chr6:101194549-101196808
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	chr6:101191819..101193985-chr6:101196760..101198268,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9322169	chr6:101194563-101194564	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563971827	chr6:101194573-101194574	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs1577618	chr6:101194736-101194737	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189588366	chr6:101194802-101194803	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561616600	chr6:101194811-101194812	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181846993	chr6:101194837-101194838	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528940778	chr6:101194882-101194883	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529415933	chr6:101194928-101194929	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186442573	chr6:101194949-101194950	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9498257	chr6:101194989-101194990	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34268050	chr6:101195012-101195013	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397937850	chr6:101195024-101195025	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181569033	chr6:101195046-101195047	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570291802	chr6:101195111-101195112	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115132074	chr6:101195115-101195116	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549499094	chr6:101195173-101195174	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113039522	chr6:101195213-101195214	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560028354	chr6:101195233-101195234	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535074469	chr6:101195238-101195239	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78541948	chr6:101195242-101195243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386704250	chr6:101195253-101195254	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7752853	chr6:101195255-101195256	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551958057	chr6:101195287-101195288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557626432	chr6:101195290-101195291	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554367452	chr6:101195319-101195320	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9404019	chr6:101195321-101195322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148244804	chr6:101195359-101195360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571979703	chr6:101195373-101195374	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9399681	chr6:101195375-101195376	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573676975	chr6:101195376-101195377	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186359650	chr6:101195413-101195414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34675128	chr6:101195454-101195455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559120028	chr6:101195456-101195457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532935754	chr6:101195477-101195478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191262562	chr6:101195516-101195517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563963874	chr6:101195529-101195530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531191225	chr6:101195576-101195577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549316685	chr6:101195616-101195617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183387924	chr6:101195617-101195618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534824994	chr6:101195643-101195644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547046145	chr6:101195696-101195697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12664626	chr6:101195720-101195721	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141890834	chr6:101195743-101195744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556894721	chr6:101195780-101195781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187552611	chr6:101195807-101195808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57169693	chr6:101195871-101195872	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555288658	chr6:101195881-101195882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146266550	chr6:101195896-101195897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540797006	chr6:101195909-101195910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536382598	chr6:101195914-101195915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101166200-101211000	Weak transcription	NH-A	brain
2	chr6:101168600-101211200	Weak transcription	Osteobl	bone
3	chr6:101169000-101211000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:101170800-101199200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:101172200-101198600	Weak transcription	Small Intestine	intestine
6	chr6:101172800-101210800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:101173000-101209000	Weak transcription	K562	blood
8	chr6:101173000-101211000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:101175800-101211200	Weak transcription	Psoas Muscle	Psoas
10	chr6:101177000-101211600	Weak transcription	NHDF-Ad	bronchial
11	chr6:101182200-101214400	Weak transcription	A549	lung
12	chr6:101184400-101304600	Weak transcription	Hela-S3	cervix
13	chr6:101185400-101212600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:101186600-101208400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:101186800-101199400	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:101188400-101211400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:101189200-101209200	Weak transcription	Right Ventricle	heart
18	chr6:101190200-101199600	Weak transcription	Fetal Brain Male	brain
19	chr6:101190200-101211200	Weak transcription	Fetal Lung	lung
20	chr6:101190200-101211600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:101190400-101205000	Weak transcription	Left Ventricle	heart
22	chr6:101190600-101206400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:101190600-101212600	Weak transcription	HSMMtube	muscle
24	chr6:101190800-101211000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:101190800-101216200	Weak transcription	Stomach Mucosa	stomach
26	chr6:101190800-101217400	Weak transcription	NHLF	lung
27	chr6:101191000-101194600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:101191000-101196400	Weak transcription	HSMM	muscle
29	chr6:101191000-101208200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:101191000-101209000	Weak transcription	Lung	lung
31	chr6:101191000-101211200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:101191000-101211400	Weak transcription	Fetal Thymus	thymus
33	chr6:101191200-101202400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr6:101191200-101206400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:101191200-101207200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr6:101191200-101207200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:101191200-101207800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr6:101191200-101208200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:101191200-101209200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:101191200-101209200	Weak transcription	Fetal Stomach	stomach
41	chr6:101191200-101209800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:101191200-101211200	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:101191200-101211400	Weak transcription	Adipose Nuclei	Adipose
44	chr6:101191200-101211600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr6:101191200-101211600	Weak transcription	HepG2	liver
46	chr6:101191200-101211800	Weak transcription	Placenta	Placenta
47	chr6:101191400-101195400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:101191400-101196000	Weak transcription	Primary B cells from cord blood	blood
49	chr6:101191400-101196000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:101191400-101196400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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