Variant report

Variant	esv2761050
Chromosome Location	chr6:39066867-39072034
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:39071474..39074131-chr6:39080947..39082685,2	MCF-7	breast:
2	chr6:38964621..38966013-chr6:39069682..39070743,10	K562	blood:
3	chr6:38964584..38965478-chr6:39069701..39070675,4	MCF-7	breast:
4	chr6:39065425..39068322-chr6:39071834..39073709,2	MCF-7	breast:
5	chr6:39065425..39068322-chr6:39071834..39073709,2	MCF-7	breast:
6	chr6:38964632..38965529-chr6:39070197..39070698,2	MCF-7	breast:
7	chr6:38941036..38941697-chr6:39069688..39070694,3	K562	blood:
8	chr6:39062721..39065364-chr6:39067469..39070050,3	K562	blood:
9	chr6:38997353..38997907-chr6:39070876..39071609,2	K562	blood:
10	chr6:39071727..39073365-chr6:39081349..39083431,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112167	chromatin interactions

Extended variants
information (count: 151 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:151 , 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	rs568282334	chr6:39066870-39066871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561632156	chr6:39066884-39066885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9470967	chr6:39066903-39066904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546392222	chr6:39066924-39066925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544296932	chr6:39066935-39066936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564686917	chr6:39066974-39066975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60815628	chr6:39066980-39066981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111824853	chr6:39067037-39067038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73734044	chr6:39067051-39067052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563671993	chr6:39067058-39067059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529550412	chr6:39067076-39067077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548973066	chr6:39067162-39067163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568864409	chr6:39067168-39067169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189203751	chr6:39067169-39067170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139908434	chr6:39067306-39067307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369697322	chr6:39067308-39067309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551424390	chr6:39067343-39067344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537111774	chr6:39067353-39067354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377676066	chr6:39067423-39067424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531044067	chr6:39067512-39067513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372561510	chr6:39067513-39067514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4714212	chr6:39067524-39067525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74699147	chr6:39067526-39067527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557446257	chr6:39067530-39067531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77128621	chr6:39067562-39067563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372739131	chr6:39067605-39067606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566770152	chr6:39067699-39067700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56000121	chr6:39067706-39067707	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs140409384	chr6:39067708-39067709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549255471	chr6:39067773-39067774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145201532	chr6:39067774-39067775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147986199	chr6:39067841-39067842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557914600	chr6:39067867-39067868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547212002	chr6:39067943-39067944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561871667	chr6:39068011-39068012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574126590	chr6:39068085-39068086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112863803	chr6:39068109-39068110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560440077	chr6:39068117-39068118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533243559	chr6:39068163-39068164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148584660	chr6:39068228-39068229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529592721	chr6:39068243-39068244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542882943	chr6:39068288-39068289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562556239	chr6:39068315-39068316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371826562	chr6:39068355-39068356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551336504	chr6:39068356-39068357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571756304	chr6:39068365-39068366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141668114	chr6:39068486-39068487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546779109	chr6:39068524-39068525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543237730	chr6:39068605-39068606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535765559	chr6:39068649-39068650	Weak transcription Enhancers	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
Acute myeloid leukemia	20729466	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
Oral squamous cell carcinoma	17134496	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21510904	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39021200-39072000	Weak transcription	Gastric	stomach
2	chr6:39027400-39073000	Weak transcription	Pancreas	Pancrea
3	chr6:39043400-39082000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:39053000-39072400	Weak transcription	Brain Germinal Matrix	brain
5	chr6:39055200-39069800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:39058000-39068200	Weak transcription	Thymus	Thymus
7	chr6:39058400-39071200	Weak transcription	Psoas Muscle	Psoas
8	chr6:39058400-39072000	Weak transcription	Left Ventricle	heart
9	chr6:39058400-39072600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:39058400-39073000	Weak transcription	Lung	lung
11	chr6:39060400-39073200	Weak transcription	Fetal Heart	heart
12	chr6:39060600-39072800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:39062000-39072000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:39062600-39072200	Weak transcription	Small Intestine	intestine
15	chr6:39063400-39069600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:39063800-39072200	Weak transcription	Liver	Liver
17	chr6:39063800-39076400	Weak transcription	HepG2	liver
18	chr6:39064800-39076800	Weak transcription	Aorta	Aorta
19	chr6:39065000-39072400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:39065200-39071200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:39065400-39067600	Weak transcription	Fetal Lung	lung
22	chr6:39066400-39072000	Weak transcription	Right Ventricle	heart
23	chr6:39066800-39077200	Weak transcription	Brain Anterior Caudate	brain
24	chr6:39067400-39070600	Weak transcription	Primary B cells from cord blood	blood
25	chr6:39067600-39071800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:39067600-39073000	Enhancers	Fetal Lung	lung
27	chr6:39067800-39068800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr6:39068000-39070800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:39068200-39068400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:39068200-39068400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr6:39068200-39068600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr6:39068200-39068600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr6:39068200-39068600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:39068200-39068600	Enhancers	Fetal Thymus	thymus
35	chr6:39068200-39068600	Enhancers	Thymus	Thymus
36	chr6:39068200-39068800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr6:39068200-39070200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:39068200-39082000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr6:39068400-39068600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr6:39068400-39068800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr6:39068400-39069200	Enhancers	Primary T cells from cord blood	blood
42	chr6:39068400-39070600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr6:39068400-39075600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:39068600-39070200	Weak transcription	Thymus	Thymus
45	chr6:39068600-39070600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr6:39068600-39070600	Weak transcription	Fetal Intestine Large	intestine
47	chr6:39068600-39071800	Weak transcription	Fetal Thymus	thymus
48	chr6:39068600-39072200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:39068600-39072400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr6:39068600-39073000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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