Variant report

Variant	esv1001991
Chromosome Location	chr6:100674651-100685935
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:100671535..100674999-chr6:100676735..100678390,3	K562	blood:
2	chr6:100679897..100681706-chr6:100686386..100688057,2	K562	blood:
3	chr6:100675649..100678406-chr6:100706884..100708922,2	K562	blood:
4	chr6:100678673..100681754-chr6:100683277..100685673,3	K562	blood:
5	chr6:100677679..100679724-chr6:100693665..100695877,2	K562	blood:
6	chr6:100679763..100681397-chr6:100682604..100684636,2	MCF-7	breast:
7	chr6:100667522..100670093-chr6:100673930..100678606,4	K562	blood:
8	chr6:100679808..100682581-chr6:100705982..100708291,2	K562	blood:
9	chr6:100683791..100686416-chr6:100690104..100691994,2	K562	blood:
10	chr6:100671535..100674999-chr6:100676735..100678390,3	K562	blood:
11	chr6:100623345..100625127-chr6:100676726..100678390,2	MCF-7	breast:
12	chr6:100678985..100681308-chr6:100704669..100708291,4	K562	blood:
13	chr6:100678673..100681754-chr6:100683277..100685673,3	K562	blood:
14	chr6:100675649..100678323-chr6:100706693..100708384,2	K562	blood:
15	chr6:100674376..100676928-chr6:100720727..100722530,2	K562	blood:
16	chr6:100671535..100676020-chr6:100676735..100678390,4	K562	blood:
17	chr6:100671535..100676020-chr6:100676735..100678390,4	K562	blood:
18	chr6:100679763..100681397-chr6:100682604..100684636,2	MCF-7	breast:
19	chr6:100676458..100678188-chr6:100705698..100707425,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000216378	chromatin interactions

Extended variants
information (count: 362 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7749433	chr6:100674799-100674800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549418526	chr6:100674867-100674868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146590406	chr6:100674893-100674894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79521108	chr6:100674908-100674909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140995974	chr6:100674945-100674946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572193307	chr6:100674960-100674961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539498172	chr6:100674980-100674981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557600782	chr6:100674992-100674993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189100466	chr6:100674999-100675000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575076302	chr6:100675032-100675033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2474266	chr6:100675050-100675051	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559703749	chr6:100675061-100675062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192813817	chr6:100675091-100675092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144736690	chr6:100675108-100675109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9376805	chr6:100675117-100675118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs545515192	chr6:100675139-100675140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562198864	chr6:100675153-100675154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138675860	chr6:100675154-100675155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183763333	chr6:100675238-100675239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9403545	chr6:100675266-100675267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563739807	chr6:100675281-100675282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531028140	chr6:100675337-100675338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528860285	chr6:100675386-100675387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549354755	chr6:100675407-100675408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567701938	chr6:100675503-100675504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535734701	chr6:100675525-100675526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75393578	chr6:100675532-100675533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565851734	chr6:100675537-100675538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539222699	chr6:100675542-100675543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557551225	chr6:100675583-100675584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530460505	chr6:100675629-100675630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1884262	chr6:100675639-100675640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112445248	chr6:100675640-100675641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191620365	chr6:100675680-100675681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554934138	chr6:100675683-100675684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73501256	chr6:100675735-100675736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533454710	chr6:100675744-100675745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541692094	chr6:100675767-100675768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369625488	chr6:100675790-100675791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs118139935	chr6:100675792-100675793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116730118	chr6:100675823-100675824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545223128	chr6:100675824-100675825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561860518	chr6:100675852-100675853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563880129	chr6:100675905-100675906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12216147	chr6:100675944-100675945	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549543450	chr6:100675982-100675983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561244552	chr6:100675997-100675998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114683352	chr6:100676043-100676044	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546987530	chr6:100676125-100676126	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs565806421	chr6:100676164-100676165	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100674400-100675600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:100674600-100676400	Enhancers	HUVEC	blood vessel
3	chr6:100674800-100676200	Enhancers	K562	blood
4	chr6:100675600-100676200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:100675800-100676200	Enhancers	GM12878-XiMat	blood
6	chr6:100675800-100676400	Enhancers	Fetal Intestine Large	intestine
7	chr6:100676000-100676200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:100676000-100676200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:100676000-100676200	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr6:100676000-100676200	Enhancers	NHEK	skin
11	chr6:100676000-100676400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:100676000-100676400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:100676000-100676600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:100676000-100676600	Enhancers	NHLF	lung
15	chr6:100676000-100676800	Active TSS	Fetal Brain Male	brain
16	chr6:100676000-100677600	Enhancers	Fetal Heart	heart
17	chr6:100676200-100676400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:100676200-100676400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:100676200-100676400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr6:100676200-100676400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:100676200-100676400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:100676200-100676400	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:100676200-100676400	Bivalent Enhancer	Primary T cells from cord blood	blood
24	chr6:100676200-100676400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:100676200-100676400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:100676200-100676400	Enhancers	Liver	Liver
27	chr6:100676200-100676400	Enhancers	Brain Germinal Matrix	brain
28	chr6:100676200-100676400	Enhancers	Brain Hippocampus Middle	brain
29	chr6:100676200-100676400	Enhancers	Brain Substantia Nigra	brain
30	chr6:100676200-100676400	Enhancers	Fetal Intestine Small	intestine
31	chr6:100676200-100676400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:100676200-100676400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr6:100676200-100676400	Enhancers	A549	lung
34	chr6:100676200-100676400	Flanking Active TSS	GM12878-XiMat	blood
35	chr6:100676200-100676400	Enhancers	HMEC	breast
36	chr6:100676200-100676400	Enhancers	NH-A	brain
37	chr6:100676200-100676400	Enhancers	NHDF-Ad	bronchial
38	chr6:100676200-100676600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
39	chr6:100676200-100676600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr6:100676200-100676600	Enhancers	HSMM	muscle
41	chr6:100676200-100676600	Flanking Active TSS	K562	blood
42	chr6:100676200-100676800	Active TSS	Primary T cells fromperipheralblood	blood
43	chr6:100676200-100676800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:100676200-100676800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:100676200-100676800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:100676200-100676800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:100676200-100676800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:100676200-100677200	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr6:100676200-100677200	Active TSS	Brain Anterior Caudate	brain
50	chr6:100676200-100677200	Active TSS	Fetal Lung	lung

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