Variant report

Variant	esv2516025
Chromosome Location	chr6:44898952-44900521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 94 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562847199	chr6:44898978-44898979	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs183692329	chr6:44899016-44899017	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530659055	chr6:44899037-44899038	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs137969250	chr6:44899052-44899053	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs188411269	chr6:44899100-44899101	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550582521	chr6:44899109-44899110	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs149462459	chr6:44899118-44899119	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570776529	chr6:44899156-44899157	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143897067	chr6:44899183-44899184	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550302401	chr6:44899307-44899308	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs568867773	chr6:44899370-44899371	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570505966	chr6:44899416-44899417	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181303621	chr6:44899444-44899445	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572852252	chr6:44899495-44899496	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148188441	chr6:44899503-44899504	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558916318	chr6:44899510-44899511	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577165654	chr6:44899528-44899529	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533995625	chr6:44899531-44899532	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561743107	chr6:44899557-44899558	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374933123	chr6:44899563-44899564	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529386361	chr6:44899574-44899575	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141600151	chr6:44899592-44899593	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562696240	chr6:44899593-44899594	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574884046	chr6:44899620-44899621	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555833598	chr6:44899628-44899629	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs679713	chr6:44899632-44899633	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs146390439	chr6:44899665-44899666	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372565201	chr6:44899795-44899796	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79121480	chr6:44899887-44899888	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552124639	chr6:44899888-44899889	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567167853	chr6:44899959-44899960	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs55906653	chr6:44899996-44899997	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368876652	chr6:44900082-44900083	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10456120	chr6:44900107-44900108	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568633287	chr6:44900173-44900174	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561605647	chr6:44900214-44900215	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs3799986	chr6:44900253-44900254	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs112630309	chr6:44900278-44900279	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575631321	chr6:44900290-44900291	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs376643554	chr6:44900367-44900368	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs76357035	chr6:44900370-44900371	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs201286293	chr6:44900418-44900419	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs139744017	chr6:44900431-44900432	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs144405071	chr6:44900434-44900435	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs374943926	chr6:44900446-44900447	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs577252940	chr6:44900452-44900453	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs146594864	chr6:44900467-44900468	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs377126504	chr6:44900483-44900484	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs370545741	chr6:44900504-44900505	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs199814668	chr6:44900505-44900506	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44885600-44899200	Weak transcription	Fetal Stomach	stomach
2	chr6:44893200-44899800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:44893400-44900800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:44893800-44900400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:44894600-44899200	Weak transcription	Primary B cells from cord blood	blood
6	chr6:44894600-44899800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:44895800-44910200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:44896600-44899000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:44897200-44899200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr6:44897200-44899800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr6:44898400-44899000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr6:44898400-44899200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr6:44898400-44899400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:44898400-44899600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr6:44898400-44899600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr6:44898400-44899600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr6:44898400-44899600	Enhancers	Dnd41	blood
18	chr6:44898600-44900600	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr6:44898600-44901600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:44898800-44899000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr6:44898800-44899000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:44898800-44899200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:44898800-44900800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:44899000-44899400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:44899000-44899400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:44899000-44899600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:44899000-44900200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:44899200-44899400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr6:44899200-44899600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:44899200-44901200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr6:44899400-44899600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:44899400-44899600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:44899400-44900800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr6:44899400-44901200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr6:44899600-44899800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:44899600-44899800	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr6:44899600-44900000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr6:44899600-44900800	Flanking Active TSS	Dnd41	blood
39	chr6:44899600-44901200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:44899600-44901400	Active TSS	Primary T cells fromperipheralblood	blood
41	chr6:44899600-44901400	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr6:44899600-44901600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:44899800-44900000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr6:44899800-44900000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr6:44899800-44900200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:44899800-44900200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:44899800-44900400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:44899800-44900600	Enhancers	Primary hematopoietic stem cells	blood
49	chr6:44900000-44900400	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr6:44900000-44900400	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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