Variant report

Variant	esv3438946
Chromosome Location	chr6:38177563-38177935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 91 )

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	rs573774508	chr6:38177583-38177584	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs189825382	chr6:38177651-38177652	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs4299828	chr6:38177667-38177668	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs576040792	chr6:38177698-38177699	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544971608	chr6:38177739-38177740	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs565584147	chr6:38177753-38177754	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs554505753	chr6:38177758-38177759	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572693334	chr6:38177789-38177790	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181280766	chr6:38177844-38177845	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs561353683	chr6:38177851-38177852	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs6904507	chr6:38177857-38177858	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551992855	chr6:38177871-38177872	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	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
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38147400-38180400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:38160200-38177600	Weak transcription	Esophagus	oesophagus
3	chr6:38160400-38177600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:38160600-38179600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:38160800-38201400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:38162000-38179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:38162600-38180000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:38166800-38194800	Weak transcription	Primary B cells from cord blood	blood
9	chr6:38167000-38210400	Weak transcription	Primary T cells from cord blood	blood
10	chr6:38174200-38180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:38175400-38179600	Weak transcription	Psoas Muscle	Psoas
12	chr6:38175400-38180000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:38175800-38178800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:38176000-38179600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:38176000-38184800	Enhancers	Fetal Muscle Leg	muscle
16	chr6:38176200-38177800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:38176200-38178200	Weak transcription	Fetal Kidney	kidney
18	chr6:38176200-38181400	Enhancers	Fetal Stomach	stomach
19	chr6:38176800-38177600	Enhancers	Fetal Brain Female	brain
20	chr6:38176800-38177600	Enhancers	Fetal Intestine Small	intestine
21	chr6:38176800-38177800	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:38176800-38177800	Enhancers	Fetal Muscle Trunk	muscle
23	chr6:38176800-38178000	Enhancers	Fetal Thymus	thymus
24	chr6:38176800-38178800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:38176800-38179800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:38177000-38177600	Enhancers	GM12878-XiMat	blood
27	chr6:38177000-38177800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:38177000-38177800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:38177000-38178000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:38177000-38178000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr6:38177000-38178400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:38177000-38178600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:38177000-38178800	Enhancers	Fetal Lung	lung
34	chr6:38177200-38177800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:38177200-38177800	Enhancers	Aorta	Aorta
36	chr6:38177200-38178000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr6:38177200-38178000	Enhancers	Fetal Brain Male	brain
38	chr6:38177200-38178200	Weak transcription	Brain Angular Gyrus	brain
39	chr6:38177200-38178400	Enhancers	Lung	lung
40	chr6:38177200-38178400	Enhancers	Small Intestine	intestine
41	chr6:38177200-38178600	Enhancers	Brain Hippocampus Middle	brain
42	chr6:38177200-38178800	Enhancers	Ovary	ovary
43	chr6:38177200-38179000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:38177200-38179800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:38177400-38177600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:38177400-38177600	Enhancers	Gastric	stomach
47	chr6:38177400-38177600	Enhancers	Left Ventricle	heart
48	chr6:38177400-38177800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:38177400-38177800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:38177400-38177800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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