Variant report

Variant	esv3415648
Chromosome Location	chr6:74176971-74177328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74176803..74178965-chr6:74217784..74220386,2	K562	blood:
2	6:74000304-74012200..6:74160392-74184826	K562	blood:
3	chr6:74176292..74177973-chr6:74230124..74232828,2	K562	blood:

Variant related genes	Relation type
ENSG00000156508	chromatin interactions
ENSG00000234882	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6920811	chr6:74176986-74176987	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556624635	chr6:74177004-74177005	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs60469374	chr6:74177028-74177029	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs189617124	chr6:74177104-74177105	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs28784114	chr6:74177230-74177231	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs542020802	chr6:74177232-74177233	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372397855	chr6:74177284-74177285	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs538947404	chr6:74177309-74177310	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs553822647	chr6:74177323-74177324	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Chronic lymphocytic leukemia	21546498	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
Malignant fibrous histiocytomas	21085701	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74172200-74189600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:74172200-74189600	Weak transcription	Stomach Mucosa	stomach
3	chr6:74172200-74197200	Weak transcription	Fetal Heart	heart
4	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:74172400-74177400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:74172400-74178000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:74172400-74178200	Weak transcription	Fetal Kidney	kidney
8	chr6:74172400-74183000	Weak transcription	Aorta	Aorta
9	chr6:74172400-74183400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:74172800-74177000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:74172800-74177600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:74172800-74177800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:74172800-74178600	Weak transcription	NHLF	lung
14	chr6:74172800-74181400	Strong transcription	Fetal Stomach	stomach
15	chr6:74172800-74183000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:74172800-74183000	Weak transcription	A549	lung
17	chr6:74172800-74183200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:74173000-74183000	Weak transcription	Psoas Muscle	Psoas
19	chr6:74173000-74183200	Weak transcription	Colonic Mucosa	Colon
20	chr6:74173200-74177400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:74173200-74177600	Weak transcription	Gastric	stomach
22	chr6:74173200-74178000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:74173200-74178600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:74173200-74182800	Weak transcription	Right Ventricle	heart
25	chr6:74173400-74181400	Strong transcription	Fetal Intestine Small	intestine
26	chr6:74173400-74199000	Strong transcription	Fetal Thymus	thymus
27	chr6:74173600-74177800	Weak transcription	Brain Germinal Matrix	brain
28	chr6:74173600-74180000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr6:74173600-74198800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:74173800-74177800	Weak transcription	Primary T cells from cord blood	blood
31	chr6:74173800-74181800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:74173800-74181800	Strong transcription	Fetal Muscle Leg	muscle
33	chr6:74173800-74182200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr6:74173800-74198800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:74173800-74206200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:74174000-74187600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:74174000-74193600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:74174200-74178400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:74174200-74182600	Weak transcription	Small Intestine	intestine
40	chr6:74174600-74179800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr6:74174800-74180000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr6:74174800-74180600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:74175000-74179400	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:74175200-74179800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr6:74175200-74198800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:74175200-74199200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr6:74175400-74199000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr6:74175600-74179000	Strong transcription	K562	blood
49	chr6:74175600-74179200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:74175600-74180800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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