Variant report

Variant	esv3422272
Chromosome Location	chr6:24925373-24929771
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	chr6:24929367..24931167-chr6:24936238..24937978,2	MCF-7	breast:
2	chr6:24928799..24930650-chr6:24931112..24934002,2	K562	blood:

Extended variants
information (count: 188 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11457186	chr6:24925381-24925382	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs190088705	chr6:24925385-24925386	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs2747673	chr6:24925386-24925387	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534573861	chr6:24925452-24925453	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs112272387	chr6:24925518-24925519	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs73731445	chr6:24925524-24925525	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs536832955	chr6:24925590-24925591	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs186254721	chr6:24925649-24925650	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs149143272	chr6:24925657-24925658	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs216264	chr6:24925659-24925660	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs553048327	chr6:24925727-24925728	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs573178998	chr6:24925758-24925759	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs189838570	chr6:24925804-24925805	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs7770880	chr6:24925818-24925819	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs180752505	chr6:24925862-24925863	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs373971862	chr6:24925867-24925868	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs36119418	chr6:24925928-24925929	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs113862698	chr6:24925929-24925930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs185963431	chr6:24926101-24926102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs535865136	chr6:24926105-24926106	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs191239475	chr6:24926141-24926142	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs76212383	chr6:24926173-24926174	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs549072003	chr6:24926226-24926227	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs559223600	chr6:24926237-24926238	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs144519512	chr6:24926254-24926255	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs143158574	chr6:24926286-24926287	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs370164271	chr6:24926333-24926334	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs2394322	chr6:24926344-24926345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536969989	chr6:24926383-24926384	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs73382310	chr6:24926423-24926424	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs148274667	chr6:24926449-24926450	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs536095977	chr6:24926468-24926469	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs553427181	chr6:24926522-24926523	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs115742132	chr6:24926546-24926547	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs539009809	chr6:24926547-24926548	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs142799590	chr6:24926621-24926622	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183099330	chr6:24926649-24926650	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575982806	chr6:24926654-24926655	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544927319	chr6:24926720-24926721	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs606162	chr6:24926730-24926731	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs73731446	chr6:24926834-24926835	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs605704	chr6:24926835-24926836	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs137989068	chr6:24926858-24926859	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs188384102	chr6:24926905-24926906	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs544575721	chr6:24926907-24926908	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs62402043	chr6:24926924-24926925	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs13190730	chr6:24926925-24926926	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs374357375	chr6:24926951-24926952	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs550448212	chr6:24926952-24926953	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs552817039	chr6:24927029-24927030	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24912400-24926600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:24913600-24927400	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr6:24919200-24930600	Weak transcription	Gastric	stomach
4	chr6:24919800-24927600	Enhancers	Fetal Thymus	thymus
5	chr6:24919800-24928600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:24920600-24930000	Weak transcription	Right Atrium	heart
7	chr6:24920600-24932000	Weak transcription	Fetal Kidney	kidney
8	chr6:24921000-24928400	Weak transcription	Fetal Heart	heart
9	chr6:24921200-24926600	Enhancers	Dnd41	blood
10	chr6:24921200-24927800	Weak transcription	HSMMtube	muscle
11	chr6:24921200-24929600	Weak transcription	Psoas Muscle	Psoas
12	chr6:24921400-24926400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:24922800-24925600	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr6:24923400-24925400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:24923400-24925600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:24923400-24926600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:24923400-24927000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:24923600-24925400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:24923800-24925600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
20	chr6:24923800-24926200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:24924000-24925400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:24924000-24925600	Genic enhancers	Primary monocytes fromperipheralblood	blood
23	chr6:24924200-24925400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr6:24924200-24925400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:24924200-24925600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:24924200-24925600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
27	chr6:24924200-24925800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:24924200-24925800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
29	chr6:24924200-24927000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
30	chr6:24924400-24925600	Enhancers	Thymus	Thymus
31	chr6:24924400-24925800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:24924400-24926800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:24924400-24926800	Enhancers	Fetal Lung	lung
34	chr6:24924400-24930000	Enhancers	Hela-S3	cervix
35	chr6:24924600-24925600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:24924600-24925600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr6:24924600-24925600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr6:24924600-24927200	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr6:24924600-24928000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:24924600-24929400	Weak transcription	Fetal Muscle Leg	muscle
41	chr6:24924600-24930600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:24924600-24930600	Weak transcription	Spleen	Spleen
43	chr6:24924600-24930800	Weak transcription	Brain Germinal Matrix	brain
44	chr6:24924800-24925400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr6:24924800-24925400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:24924800-24925600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:24924800-24926000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:24924800-24926000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:24924800-24926600	Enhancers	GM12878-XiMat	blood
50	chr6:24924800-24927000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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