Variant report

Variant	esv275512
Chromosome Location	chr11:47393303-47395962
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:24)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47376430..47376950-chr11:47395548..47396053,2	MCF-7	breast:
2	chr11:47393904..47396157-chr11:47470768..47473651,2	K562	blood:
3	chr11:47195854..47197840-chr11:47393831..47395541,2	K562	blood:
4	chr11:47393959..47396098-chr11:47398578..47401487,2	K562	blood:
5	chr11:47395359..47404298-chr11:47408556..47417905,22	K562	blood:
6	chr11:47395201..47395975-chr11:47638731..47639268,2	MCF-7	breast:
7	chr11:47387142..47389987-chr11:47393961..47396732,2	K562	blood:
8	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
9	chr11:47395159..47396012-chr11:47433753..47434329,3	MCF-7	breast:
10	chr11:47390841..47393581-chr11:47397116..47400439,3	K562	blood:
11	chr11:47387142..47389249-chr11:47393503..47395461,2	K562	blood:
12	chr11:47380338..47382124-chr11:47391375..47394972,3	K562	blood:
13	chr11:47395073..47396141-chr11:47475486..47476579,4	MCF-7	breast:
14	chr11:47392669..47398633-chr11:47427643..47432695,11	MCF-7	breast:
15	chr11:47279585..47280120-chr11:47395498..47396088,2	K562	blood:
16	chr11:47395529..47396051-chr11:47638273..47639098,2	K562	blood:
17	chr11:47395793..47399291-chr11:47428329..47431622,5	MCF-7	breast:
18	chr11:47395142..47396081-chr11:47429255..47430261,8	K562	blood:
19	chr11:47376680..47377459-chr11:47395174..47396139,4	K562	blood:
20	chr11:47395197..47396374-chr11:47429246..47430603,8	MCF-7	breast:
21	chr11:47395505..47396265-chr11:47475219..47475939,2	MCF-7	breast:
22	chr11:47394123..47395677-chr11:47474242..47477201,2	MCF-7	breast:
23	chr11:47291173..47293615-chr11:47393614..47395294,2	K562	blood:
24	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MADD-3	chr11:47394255-47394389	NONHSAT021235

No data

Variant related genes	Relation type
ENSG00000110514	chromatin interactions
ENSG00000025434	chromatin interactions
ENSG00000066336	chromatin interactions
ENSG00000255197	chromatin interactions
ENSG00000165915	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11039212	chr11:47393303-47393304	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565584678	chr11:47393357-47393358	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs193236190	chr11:47393366-47393367	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs551295164	chr11:47393376-47393377	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs572881206	chr11:47393377-47393378	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs571494771	chr11:47393451-47393452	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs558569963	chr11:47393458-47393459	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs372765140	chr11:47393493-47393494	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs79513206	chr11:47393494-47393495	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs185336275	chr11:47393535-47393536	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs561338179	chr11:47393618-47393619	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs4992357	chr11:47393638-47393639	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs190236622	chr11:47393639-47393640	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs573647827	chr11:47393640-47393641	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs181454192	chr11:47393654-47393655	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs184219659	chr11:47393717-47393718	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs552188290	chr11:47393719-47393720	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562521904	chr11:47393727-47393728	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs145804047	chr11:47393734-47393735	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs531714234	chr11:47393747-47393748	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs1809068	chr11:47393758-47393759	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs367724528	chr11:47393799-47393800	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs371876722	chr11:47393841-47393842	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs567362029	chr11:47393864-47393865	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs199867845	chr11:47393876-47393877	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs5791759	chr11:47393934-47393935	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs398015997	chr11:47393937-47393938	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs529851864	chr11:47393942-47393943	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs140153904	chr11:47393971-47393972	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs143777972	chr11:47394007-47394008	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs371706077	chr11:47394037-47394038	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs188541926	chr11:47394053-47394054	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs146889210	chr11:47394124-47394125	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs180950053	chr11:47394233-47394234	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs537553067	chr11:47394251-47394252	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs554603340	chr11:47394256-47394257	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs116148195	chr11:47394257-47394258	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs140727467	chr11:47394273-47394274	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs553931220	chr11:47394277-47394278	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs200937543	chr11:47394298-47394299	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs896817	chr11:47394305-47394306	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs11039213	chr11:47394317-47394318	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531560092	chr11:47394319-47394320	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs896816	chr11:47394338-47394339	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs140144630	chr11:47394350-47394351	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs562258934	chr11:47394535-47394536	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs535377229	chr11:47394536-47394537	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs577895818	chr11:47394556-47394557	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs150475851	chr11:47394599-47394600	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs373462632	chr11:47394602-47394603	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47377200-47397800	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:47377600-47396800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:47377600-47397600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:47377600-47397800	Weak transcription	Brain Substantia Nigra	brain
5	chr11:47378800-47393400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:47380000-47397800	Weak transcription	Esophagus	oesophagus
7	chr11:47380200-47395200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:47380200-47396600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:47380200-47397200	Weak transcription	Brain Anterior Caudate	brain
10	chr11:47380200-47397800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:47380400-47397000	Weak transcription	Lung	lung
12	chr11:47381000-47395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:47381600-47396800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:47382000-47395200	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:47382200-47395200	Weak transcription	Fetal Intestine Small	intestine
16	chr11:47386000-47395000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:47386000-47395200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:47386000-47396200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:47386200-47394200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:47386600-47393400	Weak transcription	Spleen	Spleen
21	chr11:47386800-47395200	Weak transcription	HepG2	liver
22	chr11:47388200-47393400	Weak transcription	GM12878-XiMat	blood
23	chr11:47388400-47395200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr11:47389800-47394400	Strong transcription	Primary B cells from cord blood	blood
25	chr11:47390200-47398400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:47391000-47395200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:47391400-47395400	Weak transcription	Hela-S3	cervix
28	chr11:47391400-47395600	Genic enhancers	Primary monocytes fromperipheralblood	blood
29	chr11:47391600-47394200	Genic enhancers	Monocytes-CD14+_RO01746	blood
30	chr11:47391600-47395400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:47391600-47396000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:47391800-47395400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:47391800-47395400	Weak transcription	K562	blood
34	chr11:47392000-47393400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
35	chr11:47392600-47395400	Weak transcription	Adipose Nuclei	Adipose
36	chr11:47393200-47399600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:47393400-47393600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:47393400-47394000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
39	chr11:47393400-47395200	Strong transcription	GM12878-XiMat	blood
40	chr11:47393400-47395400	Strong transcription	Spleen	Spleen
41	chr11:47393600-47394000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:47394000-47394200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:47394000-47395200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
44	chr11:47394200-47394400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:47394200-47394600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
46	chr11:47394200-47395400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr11:47394200-47397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:47394400-47395800	Genic enhancers	Primary B cells from cord blood	blood
49	chr11:47394600-47395200	Genic enhancers	Monocytes-CD14+_RO01746	blood
50	chr11:47395000-47395200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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