Variant report

Variant	esv2763541
Chromosome Location	chr6:23887115-23946559
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:23933203..23935134-chr6:23935922..23937472,2	K562	blood:
2	chr6:23883681..23885208-chr6:23886637..23889627,2	MCF-7	breast:
3	chr10:102117039..102117661-chr6:23910880..23911790,2	Hela-S3	cervix:
4	chr6:23918439..23920690-chr6:23924109..23926782,2	MCF-7	breast:
5	chr6:23933203..23935134-chr6:23935922..23937472,2	K562	blood:
6	chr6:23923563..23926014-chr6:23927623..23930582,2	MCF-7	breast:
7	chr6:23923563..23926014-chr6:23927623..23930582,2	MCF-7	breast:
8	chr6:23918439..23920690-chr6:23924109..23926782,2	MCF-7	breast:
9	chr6:23879136..23881788-chr6:23889140..23891647,2	K562	blood:

No data

Extended variants
information (count: 1233 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1233 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556520062	chr6:23887226-23887227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576355586	chr6:23887243-23887244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543726791	chr6:23887244-23887245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371523927	chr6:23887259-23887260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188343761	chr6:23887273-23887274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574160870	chr6:23887300-23887301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115170522	chr6:23887309-23887310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559631567	chr6:23887350-23887351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180755765	chr6:23887368-23887369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533451529	chr6:23887382-23887383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141955778	chr6:23887394-23887395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115430176	chr6:23887404-23887405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530894396	chr6:23887433-23887434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549309528	chr6:23887448-23887449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114472706	chr6:23887465-23887466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534564992	chr6:23887472-23887473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144701044	chr6:23887496-23887497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73381819	chr6:23887508-23887509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567813530	chr6:23887516-23887517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148469404	chr6:23887533-23887534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9466963	chr6:23887588-23887589	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs370197655	chr6:23890216-23890217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374442578	chr6:23890218-23890219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368604996	chr6:23890220-23890221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369003181	chr6:23890221-23890222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10690255	chr6:23890228-23890229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs57984944	chr6:23890232-23890233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553996657	chr6:23890253-23890254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150395096	chr6:23890290-23890291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112723950	chr6:23890298-23890299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138156281	chr6:23890304-23890305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376215920	chr6:23890339-23890340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180910252	chr6:23890340-23890341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561646467	chr6:23890402-23890403	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528398295	chr6:23890403-23890404	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs74406857	chr6:23890404-23890405	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs149571154	chr6:23890411-23890412	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs574626155	chr6:23890446-23890447	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs184641475	chr6:23890458-23890459	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs527927801	chr6:23890547-23890548	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs546546459	chr6:23890561-23890562	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs141310900	chr6:23890577-23890578	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs368441754	chr6:23890586-23890587	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs531674772	chr6:23890624-23890625	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549837625	chr6:23890663-23890664	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9986466	chr6:23890672-23890673	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566653130	chr6:23890689-23890690	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs953377	chr6:23890691-23890692	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs9379618	chr6:23890711-23890712	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189147516	chr6:23890712-23890713	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Myelodysplastic syndrome	21251322	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
Ovarian cancer	21720365	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23887200-23887600	Enhancers	Brain Germinal Matrix	brain
2	chr6:23890200-23890400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:23890400-23890600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:23890400-23890600	Enhancers	Liver	Liver
5	chr6:23890400-23890800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:23890400-23890800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:23890400-23890800	Enhancers	NHDF-Ad	bronchial
8	chr6:23890600-23890800	Enhancers	Adipose Nuclei	Adipose
9	chr6:23890600-23890800	Flanking Active TSS	Liver	Liver
10	chr6:23890600-23891400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:23890800-23891000	Active TSS	Liver	Liver
12	chr6:23890800-23891200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:23890800-23893400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:23893400-23893800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:23904600-23905200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:23904600-23906200	Enhancers	Primary hematopoietic stem cells	blood
17	chr6:23904800-23905400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:23904800-23906400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:23905000-23905400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:23905200-23905800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:23905400-23905800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:23905400-23905800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:23905600-23906000	Enhancers	Colon Smooth Muscle	Colon
24	chr6:23905800-23906200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:23905800-23906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:23905800-23906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:23906200-23910800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:23910800-23911600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:23911600-23916000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:23915600-23916400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:23915800-23916400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr6:23915800-23917000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:23916000-23916400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:23917000-23921800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:23921800-23923600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:23922000-23924000	Enhancers	Primary hematopoietic stem cells	blood
37	chr6:23922600-23923200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:23929200-23929600	Enhancers	Fetal Stomach	stomach
39	chr6:23940400-23941200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:23940400-23941400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:23940600-23941200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr6:23941000-23941400	Enhancers	Fetal Heart	heart
43	chr6:23942000-23942400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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