Variant report

Variant	esv2647946
Chromosome Location	chr6:74342188-74342622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74341293..74343216-chr6:74345270..74346833,2	MCF-7	breast:
2	chr6:74321133..74323534-chr6:74341281..74343940,2	K562	blood:
3	chr6:74228508..74231368-chr6:74339913..74342882,2	K562	blood:
4	chr6:74229133..74230851-chr6:74342318..74344045,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156508	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576561986	chr6:74342207-74342208	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs9446957	chr6:74342244-74342245	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs9446958	chr6:74342284-74342285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs148890029	chr6:74342290-74342291	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145812158	chr6:74342350-74342351	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549126897	chr6:74342366-74342367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377154683	chr6:74342396-74342397	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9446960	chr6:74342397-74342398	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs9446961	chr6:74342411-74342412	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs532743324	chr6:74342446-74342447	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs4708069	chr6:74342479-74342480	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4706543	chr6:74342485-74342486	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs9446962	chr6:74342510-74342511	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs539237827	chr6:74342564-74342565	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551914462	chr6:74342570-74342571	Weak transcription Strong transcription	Chromatin interactive region	1 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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74296400-74354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:74296400-74354800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:74296400-74355000	Weak transcription	Fetal Brain Male	brain
4	chr6:74296600-74344000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:74297000-74361800	Weak transcription	GM12878-XiMat	blood
6	chr6:74303400-74355000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:74307200-74362400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:74307600-74356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:74311200-74355000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:74314200-74362800	Weak transcription	Stomach Mucosa	stomach
11	chr6:74314400-74346400	Weak transcription	Psoas Muscle	Psoas
12	chr6:74315200-74348800	Weak transcription	HMEC	breast
13	chr6:74315400-74345200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:74315600-74362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:74316200-74347000	Strong transcription	Fetal Intestine Small	intestine
16	chr6:74316400-74349200	Weak transcription	HUVEC	blood vessel
17	chr6:74316600-74355000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:74318400-74350000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:74318400-74355000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:74318800-74355200	Weak transcription	Colonic Mucosa	Colon
21	chr6:74319600-74354800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr6:74319800-74354800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:74324600-74362800	Weak transcription	Pancreas	Pancrea
24	chr6:74324800-74342200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:74324800-74361600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr6:74325000-74342200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:74325000-74342200	Weak transcription	Brain Germinal Matrix	brain
28	chr6:74325000-74344000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:74325000-74346000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr6:74325000-74348800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:74325000-74349400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr6:74325000-74354800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:74325000-74355200	Weak transcription	HSMM	muscle
34	chr6:74325200-74342200	Weak transcription	Fetal Thymus	thymus
35	chr6:74325200-74345800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:74325200-74355000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:74325400-74345800	Weak transcription	NHDF-Ad	bronchial
38	chr6:74325400-74362800	Weak transcription	Small Intestine	intestine
39	chr6:74328600-74350000	Weak transcription	Fetal Heart	heart
40	chr6:74330600-74342400	Weak transcription	Liver	Liver
41	chr6:74333600-74348200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:74334000-74353000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:74335200-74352400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:74335400-74346000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:74335600-74352000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:74335600-74352600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr6:74335800-74344400	Strong transcription	Adipose Nuclei	Adipose
48	chr6:74336200-74345200	Strong transcription	Osteobl	bone
49	chr6:74336400-74347000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:74336800-74352200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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