Variant report

Variant	esv15497
Chromosome Location	chr6:106981224-106982723
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106982665..106985601-chr6:106993025..106995759,2	MCF-7	breast:
2	chr6:106973098..106973851-chr6:106981648..106982148,2	Hela-S3	cervix:
3	chr6:106982668..106985044-chr6:106987673..106989483,2	K562	blood:

Variant related genes	Relation type
ENSG00000112297	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576880989	chr6:106981237-106981238	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs2353049	chr6:106981253-106981254	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536399301	chr6:106981254-106981255	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs2353048	chr6:106981258-106981259	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs567141601	chr6:106981259-106981260	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs2353047	chr6:106981285-106981286	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs114318890	chr6:106981306-106981307	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs146063716	chr6:106981316-106981317	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs191599256	chr6:106981323-106981324	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs555061121	chr6:106981357-106981358	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs544474038	chr6:106981414-106981415	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs148728741	chr6:106981421-106981422	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs559431542	chr6:106981422-106981423	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs13194254	chr6:106981439-106981440	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs548791285	chr6:106981442-106981443	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs544708966	chr6:106981541-106981542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs540475144	chr6:106981557-106981558	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs375161404	chr6:106981575-106981576	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs371767986	chr6:106981593-106981594	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs564919250	chr6:106981616-106981617	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs184799991	chr6:106981623-106981624	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs35233644	chr6:106981638-106981639	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs142271956	chr6:106981645-106981646	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs151229959	chr6:106981646-106981647	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs73520831	chr6:106981709-106981710	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189717859	chr6:106981718-106981719	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs71574203	chr6:106981728-106981729	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs13197786	chr6:106981729-106981730	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181415048	chr6:106981740-106981741	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs552559898	chr6:106981743-106981744	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs13197493	chr6:106981767-106981768	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73520834	chr6:106981783-106981784	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11752138	chr6:106981808-106981809	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs568214565	chr6:106981858-106981859	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs574977252	chr6:106981970-106981971	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs11752150	chr6:106981980-106981981	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs114249816	chr6:106981981-106981982	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs72939498	chr6:106981986-106981987	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs11153004	chr6:106982000-106982001	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11153005	chr6:106982015-106982016	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs11153006	chr6:106982020-106982021	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs145252545	chr6:106982030-106982031	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs186646861	chr6:106982040-106982041	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs188962390	chr6:106982044-106982045	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs539921465	chr6:106982068-106982069	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs181758675	chr6:106982078-106982079	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs532558400	chr6:106982143-106982144	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs2353046	chr6:106982183-106982184	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2883076	chr6:106982194-106982195	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs2353045	chr6:106982202-106982203	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:112)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Burkitt''s lymphoma	20823134	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
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106961000-107001400	Weak transcription	Gastric	stomach
2	chr6:106964800-106991000	Weak transcription	Spleen	Spleen
3	chr6:106964800-107029800	Weak transcription	Small Intestine	intestine
4	chr6:106970600-107022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:106973400-106985600	Weak transcription	Stomach Mucosa	stomach
6	chr6:106973600-106985800	Weak transcription	Thymus	Thymus
7	chr6:106973600-106986000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:106973600-106992800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:106974600-106982400	Strong transcription	Primary hematopoietic stem cells	blood
10	chr6:106974800-106982600	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr6:106975000-106981600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:106975000-106983400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr6:106975200-106983000	Strong transcription	Adipose Nuclei	Adipose
14	chr6:106976000-106983200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr6:106976200-106982800	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:106976400-106981600	Strong transcription	Primary B cells from cord blood	blood
17	chr6:106976400-106986200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:106976600-106982000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:106976600-106991400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:106977000-106986400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:106977600-106981600	Genic enhancers	NHEK	skin
22	chr6:106978000-106982400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:106978600-106983400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:106978800-106981800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:106978800-106984200	Weak transcription	NH-A	brain
26	chr6:106978800-106985600	Weak transcription	Fetal Thymus	thymus
27	chr6:106978800-106993800	Weak transcription	NHLF	lung
28	chr6:106979000-106982200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr6:106979000-107001400	Weak transcription	Pancreas	Pancrea
30	chr6:106979200-106981400	Weak transcription	Osteobl	bone
31	chr6:106979200-106982000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:106979400-106982200	Weak transcription	HUVEC	blood vessel
33	chr6:106979600-106984200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:106979600-106987200	Weak transcription	HepG2	liver
35	chr6:106979800-106981400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:106980000-106982400	Strong transcription	Rectal Smooth Muscle	rectum
37	chr6:106980200-106983000	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr6:106980200-106984400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:106980400-106982800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr6:106980800-106981400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:106980800-106981400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:106980800-106981400	Strong transcription	Primary T cells from cord blood	blood
43	chr6:106980800-106981600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:106980800-106981800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:106980800-106981800	Genic enhancers	NHDF-Ad	bronchial
46	chr6:106980800-106982000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr6:106980800-106982200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr6:106980800-106982200	Strong transcription	Dnd41	blood
49	chr6:106980800-106982400	Enhancers	Placenta	Placenta
50	chr6:106980800-106982800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood

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