Variant report

Variant	esv1004432
Chromosome Location	chr6:24954085-24957427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61675016	chr6:24954135-24954136	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs397698119	chr6:24954136-24954137	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532679495	chr6:24954137-24954138	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147740590	chr6:24954150-24954151	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570591797	chr6:24954151-24954152	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562721130	chr6:24954170-24954171	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184412011	chr6:24954172-24954173	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550639859	chr6:24954222-24954223	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141071852	chr6:24954226-24954227	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs618393	chr6:24954235-24954236	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546295228	chr6:24954342-24954343	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188752673	chr6:24954377-24954378	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192532537	chr6:24954381-24954382	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185513014	chr6:24954410-24954411	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538466390	chr6:24954441-24954442	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189637101	chr6:24954488-24954489	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149823251	chr6:24954504-24954505	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180776431	chr6:24954528-24954529	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145793508	chr6:24954619-24954620	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186699515	chr6:24954630-24954631	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201296604	chr6:24954673-24954674	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372356246	chr6:24954683-24954684	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71544280	chr6:24954684-24954685	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150258489	chr6:24954685-24954686	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78349741	chr6:24954696-24954697	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10667748	chr6:24954697-24954698	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576853781	chr6:24954754-24954755	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546084300	chr6:24954840-24954841	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148982330	chr6:24954842-24954843	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368028446	chr6:24954857-24954858	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542081413	chr6:24954882-24954883	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs631693	chr6:24954883-24954884	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs143695824	chr6:24954896-24954897	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146582618	chr6:24954906-24954907	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188725419	chr6:24954984-24954985	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375490372	chr6:24954987-24954988	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151038295	chr6:24954998-24954999	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376073458	chr6:24954999-24955000	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532188049	chr6:24955004-24955005	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552461572	chr6:24955007-24955008	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181107219	chr6:24955059-24955060	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568512667	chr6:24955075-24955076	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186141212	chr6:24955102-24955103	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190608756	chr6:24955176-24955177	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568278717	chr6:24955214-24955215	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534011977	chr6:24955228-24955229	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553895647	chr6:24955259-24955260	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34729112	chr6:24955272-24955273	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145016653	chr6:24955308-24955309	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540099481	chr6:24955445-24955446	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24948400-24954600	Enhancers	Fetal Thymus	thymus
2	chr6:24948400-24955800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:24950400-24988600	Weak transcription	Dnd41	blood
4	chr6:24951200-24960800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:24951800-24961600	Weak transcription	Spleen	Spleen
6	chr6:24952400-24954400	Enhancers	Thymus	Thymus
7	chr6:24952600-24958400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:24952800-24956800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr6:24952800-24956800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr6:24952800-24957000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:24952800-24957000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:24952800-24957800	Enhancers	Primary B cells from peripheral blood	blood
13	chr6:24952800-24957800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:24952800-24958400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr6:24952800-24964800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr6:24952800-24966600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:24952800-24973200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr6:24953200-24954400	Enhancers	Primary T cells from cord blood	blood
19	chr6:24953200-24959000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:24953400-24954400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:24953400-24956600	Weak transcription	GM12878-XiMat	blood
22	chr6:24953400-24957600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr6:24953400-24958400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:24953600-24954400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:24953600-24954400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr6:24953600-24954600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr6:24953600-24955200	Genic enhancers	Primary hematopoietic stem cells	blood
28	chr6:24953800-24954200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:24953800-24954400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:24953800-24954400	Genic enhancers	Primary B cells from cord blood	blood
31	chr6:24953800-24954600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:24953800-24954600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:24954000-24954400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:24954000-24954400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:24954000-24955600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:24954200-24955200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:24954400-24954600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr6:24954400-24954600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:24954400-24954800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:24954400-24955000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:24954400-24957400	Enhancers	Primary B cells from cord blood	blood
42	chr6:24954400-24957800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr6:24954400-24980800	Weak transcription	Thymus	Thymus
44	chr6:24954600-24955000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:24954600-24957800	Enhancers	Primary T cells from cord blood	blood
46	chr6:24954600-24959600	Weak transcription	Fetal Thymus	thymus
47	chr6:24954800-24955000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:24955000-24955200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:24955000-24955200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:24955000-24956800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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