Variant report

Variant	esv3440112
Chromosome Location	chr6:101054856-101058104
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	chr6:101057024..101059544-chr6:101398692..101400539,2	K562	blood:
2	chr6:101041802..101044393-chr6:101056918..101059370,2	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201240177	chr6:101054886-101054887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372627157	chr6:101054887-101054888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376060065	chr6:101054907-101054908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200718453	chr6:101054930-101054931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552037930	chr6:101054994-101054995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570241335	chr6:101054997-101054998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs395521	chr6:101054999-101055000	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs13215740	chr6:101055003-101055004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149130996	chr6:101055004-101055005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185182789	chr6:101055030-101055031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189901689	chr6:101055045-101055046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10570481	chr6:101055060-101055061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546971539	chr6:101055092-101055093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565878387	chr6:101055119-101055120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539700509	chr6:101055126-101055127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193189224	chr6:101055131-101055132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184713360	chr6:101055133-101055134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575852083	chr6:101055145-101055146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368363171	chr6:101055150-101055151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536815520	chr6:101055195-101055196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555051395	chr6:101055341-101055342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142722805	chr6:101055360-101055361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573633403	chr6:101055367-101055368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143252787	chr6:101055368-101055369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201747284	chr6:101055398-101055399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559285062	chr6:101055438-101055439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578208124	chr6:101055476-101055477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs454747	chr6:101055566-101055567	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs79196318	chr6:101055567-101055568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531140319	chr6:101055600-101055601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142082288	chr6:101055601-101055602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188734976	chr6:101055609-101055610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528579610	chr6:101055644-101055645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113835356	chr6:101055653-101055654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180675599	chr6:101055695-101055696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79115396	chr6:101055709-101055710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538618046	chr6:101055713-101055714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551276782	chr6:101055722-101055723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569571942	chr6:101055755-101055756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139569628	chr6:101055773-101055774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558713038	chr6:101055787-101055788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113358357	chr6:101055792-101055793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376005149	chr6:101055842-101055843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185106914	chr6:101055875-101055876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs432965	chr6:101055911-101055912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145693138	chr6:101055917-101055918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573695470	chr6:101055949-101055950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs68148772	chr6:101055957-101055958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79296354	chr6:101055963-101055964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371478622	chr6:101055964-101055965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101009000-101065600	Weak transcription	NHEK	skin
2	chr6:101011000-101080800	Weak transcription	HepG2	liver
3	chr6:101016400-101065800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:101017200-101069400	Weak transcription	Fetal Lung	lung
5	chr6:101017800-101069800	Weak transcription	Lung	lung
6	chr6:101020400-101066200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:101025800-101099800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:101027800-101070000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:101028000-101068800	Weak transcription	Psoas Muscle	Psoas
10	chr6:101030200-101070000	Weak transcription	Aorta	Aorta
11	chr6:101032400-101102000	Weak transcription	Thymus	Thymus
12	chr6:101032400-101104400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:101032600-101102000	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:101032600-101110400	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:101032800-101065600	Weak transcription	Colonic Mucosa	Colon
16	chr6:101033600-101057600	Weak transcription	Brain Angular Gyrus	brain
17	chr6:101033800-101065400	Weak transcription	Hela-S3	cervix
18	chr6:101034000-101085000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:101034400-101066200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:101034400-101084200	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:101034400-101092400	Weak transcription	Pancreas	Pancrea
22	chr6:101034600-101055000	Weak transcription	Fetal Intestine Small	intestine
23	chr6:101035400-101065600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:101035800-101070000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:101036000-101064600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:101036000-101075200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:101036000-101084800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:101036200-101073000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:101036200-101084000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:101037400-101110600	Weak transcription	K562	blood
31	chr6:101037600-101056400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:101037600-101057000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr6:101037600-101071200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:101037600-101072200	Weak transcription	Adipose Nuclei	Adipose
35	chr6:101037800-101107200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:101038000-101073200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:101038000-101084200	Weak transcription	Fetal Thymus	thymus
38	chr6:101038600-101065400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr6:101039200-101071200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:101041800-101065600	Weak transcription	HSMMtube	muscle
41	chr6:101042000-101055200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:101042200-101055000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:101042400-101055200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:101043800-101070200	Weak transcription	Spleen	Spleen
45	chr6:101044800-101055000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:101046000-101055000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:101048600-101065600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr6:101049000-101065400	Weak transcription	Ovary	ovary
49	chr6:101049000-101066200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:101049000-101066200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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