Variant report

Variant	esv3335869
Chromosome Location	chr6:76389281-76411862
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:76354799..76357581-chr6:76387845..76390206,2	K562	blood:
2	chr6:76402029..76404149-chr6:76408590..76410105,2	MCF-7	breast:
3	chr6:76404187..76405990-chr6:76505413..76507332,2	MCF-7	breast:
4	chr6:76408144..76410485-chr6:76410972..76412755,2	MCF-7	breast:
5	chr6:76363284..76364897-chr6:76389536..76391998,2	MCF-7	breast:
6	chr6:76406647..76409621-chr6:76410785..76413589,2	K562	blood:
7	chr6:76406647..76409621-chr6:76410785..76413589,2	K562	blood:
8	chr6:76405218..76407618-chr6:76430939..76433858,2	MCF-7	breast:
9	chr6:76402029..76404149-chr6:76408590..76410105,2	MCF-7	breast:
10	chr6:76402073..76403999-chr6:76420565..76422699,2	MCF-7	breast:
11	chr6:76408144..76410485-chr6:76410972..76412755,2	MCF-7	breast:
12	chr6:76397986..76399777-chr6:76458759..76460559,2	MCF-7	breast:
13	chr6:76386546..76388318-chr6:76399041..76401218,2	K562	blood:
14	chr6:75982004..75984074-chr6:76410920..76413580,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112701	chromatin interactions
ENSG00000112697	chromatin interactions
ENSG00000196586	chromatin interactions

Extended variants
information (count: 915 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79226553	chr6:76389409-76389410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551114390	chr6:76389444-76389445	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575247504	chr6:76389449-76389450	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142353509	chr6:76389474-76389475	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542676822	chr6:76389484-76389485	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560563902	chr6:76389487-76389488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528058285	chr6:76389518-76389519	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376601021	chr6:76389543-76389544	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184484620	chr6:76389598-76389599	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187815928	chr6:76389627-76389628	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs532214460	chr6:76389648-76389649	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192942640	chr6:76389689-76389690	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144579119	chr6:76389690-76389691	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537166122	chr6:76389713-76389714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs72654735	chr6:76389776-76389777	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569921161	chr6:76389796-76389797	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535016869	chr6:76389804-76389805	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2842534	chr6:76389898-76389899	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs578252975	chr6:76389907-76389908	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185049817	chr6:76389909-76389910	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371355492	chr6:76389945-76389946	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs115852067	chr6:76390006-76390007	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147957854	chr6:76390024-76390025	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs542390491	chr6:76390055-76390056	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181702939	chr6:76390070-76390071	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2647399	chr6:76390077-76390078	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs75982110	chr6:76390088-76390089	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115771131	chr6:76390115-76390116	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543860079	chr6:76390120-76390121	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs71544057	chr6:76390184-76390185	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532327247	chr6:76390215-76390216	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs550819383	chr6:76390241-76390242	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs562575910	chr6:76390271-76390272	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs529877190	chr6:76390288-76390289	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs564232123	chr6:76390298-76390299	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs375908386	chr6:76390357-76390358	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs549547980	chr6:76390466-76390467	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs34254814	chr6:76390479-76390480	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140651530	chr6:76390505-76390506	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs150480741	chr6:76390538-76390539	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571639178	chr6:76390541-76390542	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538977555	chr6:76390547-76390548	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557615281	chr6:76390575-76390576	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs73456969	chr6:76390585-76390586	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs138292269	chr6:76390588-76390589	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs189646883	chr6:76390609-76390610	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs149186237	chr6:76390684-76390685	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs180692144	chr6:76390759-76390760	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs186133098	chr6:76390785-76390786	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs143511046	chr6:76390792-76390793	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76320200-76391600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:76330600-76390400	Weak transcription	Gastric	stomach
3	chr6:76333200-76391000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:76339400-76402000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:76340200-76390400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:76340400-76390400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:76342800-76391200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:76351400-76390400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:76354600-76391200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:76356800-76391800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:76357200-76390000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:76358200-76392200	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr6:76358400-76391000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:76362000-76389800	Weak transcription	Spleen	Spleen
15	chr6:76364400-76392200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:76364800-76392400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:76366400-76392400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:76366600-76392400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:76366800-76391000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:76368000-76389800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:76368200-76392200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr6:76368600-76391800	Strong transcription	Fetal Lung	lung
23	chr6:76368800-76392000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:76370200-76391800	Weak transcription	Fetal Heart	heart
25	chr6:76370600-76389800	Weak transcription	Aorta	Aorta
26	chr6:76374400-76389600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:76376000-76391200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:76376000-76393000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:76376400-76390600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:76379400-76392200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:76379600-76392200	Strong transcription	Dnd41	blood
32	chr6:76380000-76393000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr6:76382000-76422800	Weak transcription	Stomach Mucosa	stomach
34	chr6:76383000-76392400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:76383000-76392400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:76383000-76393000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr6:76383000-76393000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:76383200-76392200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr6:76383200-76393000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr6:76383400-76392200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr6:76383400-76392200	Strong transcription	Osteobl	bone
42	chr6:76383400-76392400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr6:76383400-76392400	Strong transcription	Adipose Nuclei	Adipose
44	chr6:76383400-76393200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:76383600-76390400	Strong transcription	Primary B cells from cord blood	blood
46	chr6:76383600-76392200	Strong transcription	Placenta	Placenta
47	chr6:76383600-76392400	Strong transcription	Liver	Liver
48	chr6:76383800-76392400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:76383800-76397000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:76384000-76390800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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