Variant report

Variant	esv3388651
Chromosome Location	chr6:36788798-36789077
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	chr6:36185667..36187544-chr6:36788292..36790992,2	K562	blood:
2	chr6:36787597..36789136-chr6:36828345..36830659,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 87 )

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	rs568373460	chr6:36788889-36788890	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs542312951	chr6:36788898-36788899	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs9368961	chr6:36788900-36788901	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575623589	chr6:36788907-36788908	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200300162	chr6:36788930-36788931	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs544551307	chr6:36789006-36789007	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572964249	chr6:36789009-36789010	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs146281227	chr6:36789010-36789011	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139394174	chr6:36789015-36789016	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs236378	chr6:36789047-36789048	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527792644	chr6:36789048-36789049	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113903767	chr6:36789049-36789050	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	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
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36762600-36789600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:36777000-36797800	Weak transcription	Pancreas	Pancrea
3	chr6:36779000-36789200	Weak transcription	Left Ventricle	heart
4	chr6:36779000-36789400	Weak transcription	Fetal Stomach	stomach
5	chr6:36779000-36794000	Weak transcription	Brain Germinal Matrix	brain
6	chr6:36779200-36789400	Weak transcription	Right Ventricle	heart
7	chr6:36779400-36797600	Weak transcription	Fetal Brain Female	brain
8	chr6:36781400-36789000	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:36781600-36794200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:36786000-36789400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:36786000-36790800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:36786200-36788800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:36786200-36788800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:36786200-36788800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:36786200-36789000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:36786200-36789200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:36786200-36789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:36787000-36791200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:36787400-36796400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:36787600-36789400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:36787600-36790600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:36787800-36790600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:36788000-36789000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:36788000-36789000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:36788000-36789000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:36788000-36789600	Weak transcription	Brain Anterior Caudate	brain
27	chr6:36788000-36791000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:36788200-36789200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr6:36788200-36789200	Enhancers	HepG2	liver
30	chr6:36788200-36789600	Genic enhancers	HUVEC	blood vessel
31	chr6:36788400-36789000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:36788400-36789000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:36788400-36789000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:36788400-36789000	Enhancers	NHDF-Ad	bronchial
35	chr6:36788400-36789200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:36788400-36789200	Enhancers	Fetal Intestine Large	intestine
37	chr6:36788400-36789400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:36788400-36789400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:36788400-36789400	Flanking Active TSS	K562	blood
40	chr6:36788400-36789800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:36788400-36789800	Enhancers	NHEK	skin
42	chr6:36788400-36790000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:36788400-36790000	Enhancers	HMEC	breast
44	chr6:36788400-36802400	Weak transcription	Fetal Kidney	kidney
45	chr6:36788600-36788800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:36788600-36789000	Enhancers	Hela-S3	cervix
47	chr6:36788600-36789400	Enhancers	Fetal Intestine Small	intestine
48	chr6:36788600-36789600	Enhancers	Fetal Muscle Leg	muscle
49	chr6:36788600-36789800	Enhancers	Placenta	Placenta
50	chr6:36788600-36790000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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