Variant report

Variant	esv1845804
Chromosome Location	chr6:119747112-119771715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119672022..119674199-chr6:119758005..119760805,2	K562	blood:
2	chr6:119754671..119756379-chr6:119758564..119760913,2	K562	blood:
3	chr6:119670600..119672144-chr6:119753052..119754839,2	MCF-7	breast:
4	chr6:119745246..119748327-chr6:119749609..119753522,3	K562	blood:
5	chr6:119767735..119770196-chr6:119787942..119790551,2	K562	blood:
6	chr6:119730170..119732878-chr6:119745962..119749242,4	K562	blood:
7	chr6:119749502..119751634-chr6:119753992..119756168,2	K562	blood:
8	chr6:119670384..119671915-chr6:119762116..119763764,2	MCF-7	breast:
9	chr6:119767598..119768505-chr6:120003836..120004762,2	MCF-7	breast:
10	chr6:119745246..119748327-chr6:119749609..119753522,3	K562	blood:
11	chr6:119767617..119768590-chr6:120004189..120004690,2	MCF-7	breast:
12	chr6:119769489..119771005-chr6:119951026..119953518,2	MCF-7	breast:
13	chr6:119670916..119673522-chr6:119758148..119760805,2	K562	blood:
14	chr6:119754671..119756379-chr6:119758564..119760913,2	K562	blood:
15	chr6:119749502..119751634-chr6:119753992..119756168,2	K562	blood:
16	chr6:119746548..119748341-chr6:119750350..119752791,2	MCF-7	breast:
17	chr6:119748860..119751626-chr6:119758382..119761495,3	MCF-7	breast:
18	chr6:119730819..119732878-chr6:119745962..119748059,2	K562	blood:
19	chr6:119751144..119753172-chr6:119756265..119757910,2	K562	blood:
20	chr6:119767806..119768327-chr6:120289096..120289698,2	MCF-7	breast:
21	chr6:119690139..119692932-chr6:119750069..119752418,2	K562	blood:
22	chr6:119770080..119773062-chr6:119774639..119776880,2	K562	blood:
23	chr6:119670894..119673375-chr6:119766065..119768407,2	MCF-7	breast:
24	chr6:119668933..119671927-chr6:119765997..119768389,3	MCF-7	breast:
25	chr6:119748860..119751626-chr6:119758382..119761495,3	MCF-7	breast:
26	chr6:119478156..119480069-chr6:119745368..119747370,2	K562	blood:
27	chr6:119746548..119748341-chr6:119750350..119752791,2	MCF-7	breast:
28	chr6:119751144..119753172-chr6:119756265..119757910,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111885	chromatin interactions

Extended variants
information (count: 882 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:882 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116025305	chr6:119747164-119747165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553040444	chr6:119747172-119747173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572893552	chr6:119747204-119747205	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs542119899	chr6:119747206-119747207	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs34533531	chr6:119747236-119747237	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs78869699	chr6:119747242-119747243	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs149759201	chr6:119747265-119747266	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs535063781	chr6:119747270-119747271	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs9489709	chr6:119747296-119747297	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs187931814	chr6:119747298-119747299	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs191174764	chr6:119747331-119747332	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs374774618	chr6:119747344-119747345	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs546574059	chr6:119747376-119747377	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs574884923	chr6:119747399-119747400	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529267876	chr6:119747440-119747441	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549216109	chr6:119747537-119747538	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569458169	chr6:119747588-119747589	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs12527248	chr6:119747598-119747599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570513728	chr6:119747653-119747654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539508715	chr6:119747683-119747684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146304197	chr6:119747746-119747747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183560300	chr6:119747804-119747805	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs117905519	chr6:119747867-119747868	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139556323	chr6:119747883-119747884	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs370556688	chr6:119747901-119747902	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs79924125	chr6:119747910-119747911	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs4945637	chr6:119747945-119747946	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544372243	chr6:119747960-119747961	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs17081155	chr6:119747965-119747966	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs543197444	chr6:119747969-119747970	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs577783423	chr6:119748020-119748021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540302004	chr6:119748126-119748127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144286829	chr6:119748146-119748147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529207248	chr6:119748170-119748171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572608976	chr6:119748211-119748212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9372535	chr6:119748232-119748233	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563191927	chr6:119748236-119748237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9401144	chr6:119748259-119748260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552069394	chr6:119748269-119748270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571722762	chr6:119748291-119748292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553935841	chr6:119748314-119748315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76343897	chr6:119748390-119748391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566612986	chr6:119748454-119748455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146584840	chr6:119748553-119748554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541416262	chr6:119748599-119748600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7768102	chr6:119748647-119748648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569117331	chr6:119748715-119748716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537714560	chr6:119748836-119748837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187149730	chr6:119748860-119748861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563115301	chr6:119748941-119748942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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
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
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
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119746600-119747800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:119747000-119747200	Enhancers	Adipose Nuclei	Adipose
3	chr6:119747200-119747600	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr6:119747200-119748400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:119747400-119748400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:119747600-119747800	Enhancers	Adipose Nuclei	Adipose
7	chr6:119747600-119748200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:119747800-119748000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:119747800-119748000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr6:119747800-119748000	Enhancers	Aorta	Aorta
11	chr6:119747800-119748200	Enhancers	Colon Smooth Muscle	Colon
12	chr6:119747800-119748200	Enhancers	Pancreas	Pancrea
13	chr6:119747800-119748200	Enhancers	HSMMtube	muscle
14	chr6:119747800-119748400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:119748000-119748200	Enhancers	Adipose Nuclei	Adipose
16	chr6:119748000-119750600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:119748200-119749800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:119748200-119750000	Weak transcription	HSMMtube	muscle
19	chr6:119748200-119767000	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:119748400-119749800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:119749600-119750400	Enhancers	Fetal Intestine Small	intestine
22	chr6:119749600-119751000	Enhancers	K562	blood
23	chr6:119749800-119750400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:119749800-119750400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:119749800-119755000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:119750000-119750200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr6:119750000-119750600	Enhancers	HSMMtube	muscle
28	chr6:119750000-119750800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:119750600-119751000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:119750600-119751000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr6:119750800-119752000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:119751000-119752000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr6:119751000-119752200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:119751800-119753000	Enhancers	Placenta	Placenta
35	chr6:119752000-119752200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr6:119752000-119752400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:119752000-119753400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr6:119752200-119752600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:119752200-119753000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:119752600-119753000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr6:119753200-119753800	Enhancers	Fetal Lung	lung
42	chr6:119753400-119753600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr6:119753600-119755000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:119754800-119759600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:119755000-119755600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr6:119755600-119756000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr6:119756000-119756200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr6:119756200-119758400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr6:119757600-119758200	Enhancers	K562	blood
50	chr6:119757800-119758000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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