Variant report

Variant	esv3347214
Chromosome Location	chr6:44358607-44358729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44356394..44359367-chr6:44380277..44384190,3	K562	blood:
2	chr6:44356556..44360481-chr6:44380097..44385414,6	K562	blood:
3	chr6:44357790..44359510-chr6:44364205..44366302,2	K562	blood:
4	chr6:44307682..44310665-chr6:44355077..44358723,3	K562	blood:

Variant related genes	Relation type
ENSG00000249481	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564972977	chr6:44358612-44358613	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs200957100	chr6:44358620-44358621	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543043153	chr6:44358642-44358643	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544292745	chr6:44358643-44358644	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375584909	chr6:44358648-44358649	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562469792	chr6:44358667-44358668	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574569462	chr6:44358679-44358680	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538903028	chr6:44358689-44358690	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368110794	chr6:44358693-44358694	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560302449	chr6:44358706-44358707	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
Cancer	20164920	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44356200-44359200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:44356400-44358800	Weak transcription	Lung	lung
3	chr6:44356400-44359200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:44356400-44359400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:44356400-44361800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:44356400-44364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:44356400-44393800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:44356600-44358800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:44357000-44359200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:44357000-44359200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:44357000-44359200	Weak transcription	HSMMtube	muscle
12	chr6:44357200-44359200	Weak transcription	NHDF-Ad	bronchial
13	chr6:44357200-44359400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr6:44357200-44360400	Weak transcription	Colonic Mucosa	Colon
15	chr6:44357200-44361400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:44357200-44376200	Weak transcription	Stomach Mucosa	stomach
17	chr6:44357400-44358800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:44357400-44359000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:44357400-44359000	Weak transcription	Ovary	ovary
20	chr6:44357400-44359000	Weak transcription	Pancreas	Pancrea
21	chr6:44357400-44359200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:44357400-44359400	Weak transcription	Esophagus	oesophagus
23	chr6:44357400-44359400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:44357400-44360000	Weak transcription	Primary B cells from cord blood	blood
25	chr6:44357400-44360200	Weak transcription	Brain Substantia Nigra	brain
26	chr6:44357400-44360400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr6:44357400-44361400	Weak transcription	Psoas Muscle	Psoas
28	chr6:44357400-44364400	Weak transcription	Right Atrium	heart
29	chr6:44357400-44367000	Strong transcription	HSMM	muscle
30	chr6:44357400-44367200	Strong transcription	Fetal Muscle Leg	muscle
31	chr6:44357600-44359000	Weak transcription	Gastric	stomach
32	chr6:44357600-44359000	Strong transcription	Left Ventricle	heart
33	chr6:44357600-44359000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:44357600-44361400	Weak transcription	Right Ventricle	heart
35	chr6:44357600-44370200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:44357600-44377600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:44357600-44383200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:44357600-44388200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:44357800-44359200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:44357800-44359200	Weak transcription	NHEK	skin
41	chr6:44357800-44359800	Weak transcription	A549	lung
42	chr6:44357800-44361000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:44357800-44367000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr6:44357800-44367200	Strong transcription	Placenta	Placenta
45	chr6:44357800-44378200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:44358000-44358800	Weak transcription	Fetal Stomach	stomach
47	chr6:44358000-44359200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:44358000-44359800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
49	chr6:44358000-44364600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr6:44358000-44366200	Strong transcription	NH-A	brain

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