Variant report

Variant	esv3472803
Chromosome Location	chr6:73361891-73365203
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	chr6:73358114..73359943-chr6:73361641..73364070,2	K562	blood:
2	chr6:73357444..73360283-chr6:73362570..73365237,3	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549339271	chr6:73361896-73361897	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs567867258	chr6:73361949-73361950	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369288728	chr6:73361969-73361970	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546127773	chr6:73361981-73361982	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs535298400	chr6:73361996-73361997	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372122017	chr6:73362016-73362017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574074901	chr6:73362029-73362030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180742656	chr6:73362061-73362062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571619038	chr6:73362075-73362076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76838516	chr6:73362113-73362114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140924134	chr6:73362152-73362153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187469211	chr6:73362156-73362157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575680231	chr6:73362158-73362159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200550343	chr6:73362184-73362185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4707980	chr6:73362255-73362256	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs79807832	chr6:73362341-73362342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563479732	chr6:73362396-73362397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573510980	chr6:73362430-73362431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146985887	chr6:73362431-73362432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530800216	chr6:73362448-73362449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375231030	chr6:73362490-73362491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192078686	chr6:73362523-73362524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549315903	chr6:73362659-73362660	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs138064881	chr6:73362671-73362672	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs182288896	chr6:73362688-73362689	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs530494571	chr6:73362692-73362693	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs549075914	chr6:73362704-73362705	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs561423596	chr6:73362720-73362721	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs528697944	chr6:73362730-73362731	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs536288524	chr6:73362732-73362733	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs547308809	chr6:73362734-73362735	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs572006404	chr6:73362736-73362737	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs553317009	chr6:73362742-73362743	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186958979	chr6:73362806-73362807	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs112082255	chr6:73362833-73362834	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs569253200	chr6:73362834-73362835	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs374737405	chr6:73362851-73362852	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182699738	chr6:73362862-73362863	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs555048885	chr6:73362863-73362864	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs529268103	chr6:73362893-73362894	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs573498527	chr6:73362903-73362904	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs534548810	chr6:73362909-73362910	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs186992754	chr6:73362919-73362920	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs112887798	chr6:73362940-73362941	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs552832351	chr6:73363022-73363023	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs189933074	chr6:73363027-73363028	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs182142163	chr6:73363049-73363050	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs143750245	chr6:73363057-73363058	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs575201880	chr6:73363059-73363060	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs113235414	chr6:73363124-73363125	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	20409316	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
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73336200-73362800	Weak transcription	Primary B cells from cord blood	blood
2	chr6:73355200-73362200	Weak transcription	Psoas Muscle	Psoas
3	chr6:73358600-73362600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:73358800-73362200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:73358800-73362600	Enhancers	HSMM	muscle
6	chr6:73358800-73362600	Enhancers	HSMMtube	muscle
7	chr6:73359000-73362200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:73359600-73362000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:73359600-73362800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:73359600-73373000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:73359600-73398800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:73359800-73386800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:73360400-73362200	Enhancers	NH-A	brain
14	chr6:73360400-73372600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:73360600-73362200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:73360600-73362200	Weak transcription	Fetal Heart	heart
17	chr6:73360600-73362400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr6:73360600-73362400	Enhancers	Osteobl	bone
19	chr6:73360800-73362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:73360800-73362000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:73360800-73362000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:73360800-73362000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:73360800-73362200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:73361000-73362000	Weak transcription	Aorta	Aorta
25	chr6:73361000-73367200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:73361200-73362200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:73361800-73362600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:73361800-73362600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:73361800-73362600	Enhancers	GM12878-XiMat	blood
30	chr6:73361800-73362800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:73361800-73367200	Weak transcription	NHEK	skin
32	chr6:73362000-73362400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:73362000-73362400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:73362000-73362600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:73362000-73362600	Enhancers	Aorta	Aorta
36	chr6:73362000-73362600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr6:73362000-73363200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:73362200-73362400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:73362200-73362400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:73362200-73362400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr6:73362200-73362600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:73362200-73362600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr6:73362200-73362600	Enhancers	Psoas Muscle	Psoas
44	chr6:73362200-73362800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr6:73362200-73362800	Enhancers	Fetal Heart	heart
46	chr6:73362400-73367200	Weak transcription	Osteobl	bone
47	chr6:73362600-73363200	Flanking Active TSS	GM12878-XiMat	blood
48	chr6:73362600-73365200	Weak transcription	Aorta	Aorta
49	chr6:73362600-73367200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:73362600-73371600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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