Variant report

Variant	esv3334773
Chromosome Location	chr6:54732770-54733058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:54704497..54716767-chr6:54728797..54750947,71	MCF-7	breast:
2	chr6:54721521..54725055-chr6:54731692..54735464,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168143	chromatin interactions
ENSG00000224984	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559743497	chr6:54732775-54732776	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs532064690	chr6:54732810-54732811	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs146463201	chr6:54732813-54732814	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs565310762	chr6:54732828-54732829	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs531141395	chr6:54732885-54732886	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs6918402	chr6:54732919-54732920	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76646471	chr6:54732921-54732922	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs186532968	chr6:54732929-54732930	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546995946	chr6:54732934-54732935	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs4715489	chr6:54732965-54732966	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574859163	chr6:54732981-54732982	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538728551	chr6:54733003-54733004	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54725600-54737400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:54725600-54737600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:54726600-54739600	Weak transcription	Small Intestine	intestine
4	chr6:54727200-54732800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:54727200-54748800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:54727400-54740400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:54727400-54743800	Weak transcription	Pancreas	Pancrea
8	chr6:54728600-54732800	Weak transcription	NHEK	skin
9	chr6:54729200-54733400	Weak transcription	HMEC	breast
10	chr6:54730400-54733600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:54730400-54735800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:54730400-54743800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:54731000-54733400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:54731200-54732800	Enhancers	Stomach Mucosa	stomach
15	chr6:54731600-54737200	Weak transcription	Hela-S3	cervix
16	chr6:54731600-54739400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:54731800-54733400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:54731800-54738800	Weak transcription	Fetal Intestine Large	intestine
19	chr6:54731800-54738800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:54732200-54739200	Weak transcription	Fetal Intestine Small	intestine
21	chr6:54732600-54734600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:54732800-54733000	Weak transcription	Stomach Mucosa	stomach
23	chr6:54732800-54733400	Enhancers	NHEK	skin
24	chr6:54732800-54734200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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