Variant report

Variant	esv3491956
Chromosome Location	chr6:132373959-132380057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	6:132269655-132282174..6:132373869-132383497	GM12878	blood:
2	6:132176847-132180372..6:132373869-132383497	K562	blood:
3	6:132182612-132191683..6:132373869-132383497	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000227220	chromatin interactions
ENSG00000118523	chromatin interactions
ENSG00000197594	chromatin interactions

Extended variants
information (count: 220 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2327194	chr6:132373986-132373987	Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375606861	chr6:132373987-132373988	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs77037690	chr6:132374027-132374028	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs367582590	chr6:132374064-132374065	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs543874558	chr6:132374067-132374068	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs556093568	chr6:132374068-132374069	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs576032001	chr6:132374070-132374071	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs543324562	chr6:132374090-132374091	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs2327195	chr6:132374183-132374184	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186047909	chr6:132374203-132374204	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs558079805	chr6:132374242-132374243	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs190450445	chr6:132374282-132374283	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs565234864	chr6:132374302-132374303	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs556578381	chr6:132374329-132374330	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs181955590	chr6:132374360-132374361	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs562872347	chr6:132374388-132374389	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs186569288	chr6:132374391-132374392	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs372325363	chr6:132374393-132374394	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs548071943	chr6:132374412-132374413	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs190635903	chr6:132374419-132374420	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs533741508	chr6:132374434-132374435	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs183141230	chr6:132374462-132374463	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs573030981	chr6:132374492-132374493	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs372257680	chr6:132374528-132374529	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs570471745	chr6:132374531-132374532	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs75097668	chr6:132374539-132374540	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs143710570	chr6:132374581-132374582	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs376609621	chr6:132374582-132374583	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs201463742	chr6:132374586-132374587	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs555916685	chr6:132374587-132374588	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs573422965	chr6:132374597-132374598	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs576460049	chr6:132374628-132374629	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs574470983	chr6:132374649-132374650	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs536983472	chr6:132374663-132374664	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs371675699	chr6:132374680-132374681	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs34195925	chr6:132374683-132374684	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs555296211	chr6:132374690-132374691	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs573527925	chr6:132374784-132374785	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs76088595	chr6:132374789-132374790	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs565441952	chr6:132374798-132374799	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs551592868	chr6:132374806-132374807	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs142725358	chr6:132374830-132374831	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs544670582	chr6:132374852-132374853	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs186436735	chr6:132374867-132374868	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs75806315	chr6:132374888-132374889	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs148317981	chr6:132374892-132374893	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs562436609	chr6:132374897-132374898	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs368916425	chr6:132374952-132374953	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs191234828	chr6:132374955-132374956	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs527549022	chr6:132374966-132374967	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132373200-132376400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr6:132373600-132376200	Enhancers	NHDF-Ad	bronchial
3	chr6:132373800-132374000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:132373800-132376200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:132373800-132376600	Enhancers	NHLF	lung
6	chr6:132374000-132374600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:132374200-132376200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:132374400-132376200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:132374400-132376200	Enhancers	Osteobl	bone
10	chr6:132374400-132376800	Enhancers	HMEC	breast
11	chr6:132374600-132376200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:132374600-132376200	Enhancers	NH-A	brain
13	chr6:132375000-132375400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:132375000-132384800	Weak transcription	Pancreas	Pancrea
15	chr6:132375200-132376200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:132375400-132376200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:132375400-132376400	Enhancers	NHEK	skin
18	chr6:132375400-132376600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:132375600-132376000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:132375600-132376000	Enhancers	HepG2	liver
21	chr6:132375600-132376200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:132375600-132376200	Enhancers	Hela-S3	cervix
23	chr6:132375800-132376200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:132375800-132376200	Enhancers	HSMM	muscle
25	chr6:132376200-132378200	Weak transcription	NHDF-Ad	bronchial
26	chr6:132376200-132379200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:132376200-132379400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:132376200-132379400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:132376200-132379400	Weak transcription	Osteobl	bone
30	chr6:132376200-132380600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:132376400-132378000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:132376600-132380200	Weak transcription	NHLF	lung
33	chr6:132376600-132384400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:132377400-132377800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:132377400-132379800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:132378000-132378600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
37	chr6:132378200-132378600	ZNF genes & repeats	NHDF-Ad	bronchial
38	chr6:132378400-132378600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:132378400-132378600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:132378600-132379200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:132378600-132379400	Weak transcription	NHDF-Ad	bronchial
42	chr6:132378600-132379600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:132378600-132381800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:132379000-132379200	Enhancers	Fetal Intestine Large	intestine
45	chr6:132379200-132380400	Enhancers	Colon Smooth Muscle	Colon
46	chr6:132379200-132381800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:132379200-132385600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:132379200-132386200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:132379400-132380400	Enhancers	Ovary	ovary
50	chr6:132379400-132380800	Enhancers	Osteobl	bone

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