Variant report

Variant	esv15902
Chromosome Location	chr5:112369563-112410775
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:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112373432..112375747-chr5:112376830..112379641,2	K562	blood:
2	chr5:112384021..112386512-chr5:112388336..112390508,4	K562	blood:
3	chr5:112400600..112402613-chr5:112406837..112408952,2	K562	blood:
4	chr5:112373432..112375747-chr5:112376830..112379641,2	K562	blood:
5	chr5:112312938..112314772-chr5:112369842..112371988,2	K562	blood:
6	chr5:112377774..112380762-chr5:112388761..112390824,2	K562	blood:
7	chr5:112403827..112406035-chr5:112407847..112410916,3	K562	blood:
8	chr5:112398620..112400244-chr5:112402557..112404477,2	K562	blood:
9	chr5:112400600..112402613-chr5:112406837..112408952,2	K562	blood:
10	chr5:112367536..112370083-chr5:112388542..112390283,2	K562	blood:
11	chr5:112378846..112379838-chr5:112666004..112666840,2	MCF-7	breast:
12	chr5:112363970..112366861-chr5:112379639..112381179,2	K562	blood:
13	chr5:112377774..112380762-chr5:112388761..112390824,2	K562	blood:
14	chr5:112378867..112380762-chr5:112388761..112390439,2	K562	blood:
15	chr5:112370113..112371972-chr5:112381574..112383609,2	MCF-7	breast:
16	chr5:112378867..112380762-chr5:112388761..112390439,2	K562	blood:
17	chr5:112372620..112374480-chr5:112377239..112378903,2	K562	blood:
18	chr5:112388639..112390521-chr5:112391893..112394492,2	MCF-7	breast:
19	chr5:112403827..112406035-chr5:112407847..112410916,3	K562	blood:
20	chr5:112381725..112385379-chr5:112386016..112389315,3	MCF-7	breast:
21	chr5:112361859..112364300-chr5:112370845..112373439,3	K562	blood:
22	chr5:112368998..112372284-chr5:112372465..112374362,3	K562	blood:
23	chr5:112381725..112385379-chr5:112386016..112389315,3	MCF-7	breast:
24	chr5:112395182..112396947-chr5:112408525..112410110,2	MCF-7	breast:
25	chr5:112370113..112371972-chr5:112381574..112383609,2	MCF-7	breast:
26	chr5:112387805..112389786-chr5:112405042..112406689,2	K562	blood:
27	chr5:112393898..112396478-chr5:112407663..112409529,2	K562	blood:
28	chr5:112372620..112374480-chr5:112377239..112378903,2	K562	blood:
29	chr5:112384021..112386512-chr5:112388336..112390508,4	K562	blood:
30	chr5:112404865..112407461-chr5:112436712..112439575,2	MCF-7	breast:
31	chr5:112256096..112258647-chr5:112382591..112384818,2	K562	blood:
32	chr5:112384421..112386665-chr5:112391243..112394084,2	MCF-7	breast:
33	chr5:112395182..112396947-chr5:112408525..112410110,2	MCF-7	breast:
34	chr5:112402187..112405327-chr5:112405857..112410029,4	K562	blood:
35	chr5:112368998..112372284-chr5:112372465..112374362,3	K562	blood:
36	chr5:112384421..112386665-chr5:112391243..112394084,2	MCF-7	breast:
37	chr5:112388639..112390521-chr5:112391893..112394492,2	MCF-7	breast:
38	chr5:112393898..112396478-chr5:112407663..112409529,2	K562	blood:
39	chr5:112367536..112370083-chr5:112388542..112390283,2	K562	blood:
40	chr5:112402187..112405327-chr5:112405857..112410029,4	K562	blood:
41	chr5:112398620..112400244-chr5:112402557..112404477,2	K562	blood:
42	chr5:112387805..112389786-chr5:112405042..112406689,2	K562	blood:
43	chr5:112372883..112375761-chr5:112416823..112419304,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000129625	chromatin interactions

Extended variants
information (count: 2161 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2161 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554706647	chr5:112369569-112369570	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576175105	chr5:112369576-112369577	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543616442	chr5:112369577-112369578	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564970278	chr5:112369578-112369579	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542109670	chr5:112369601-112369602	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563595884	chr5:112369628-112369629	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186216104	chr5:112369668-112369669	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191169922	chr5:112369669-112369670	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570673372	chr5:112369691-112369692	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532454934	chr5:112369706-112369707	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71882285	chr5:112369760-112369761	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113157068	chr5:112369761-112369762	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386404712	chr5:112369775-112369776	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35834150	chr5:112369776-112369777	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371147403	chr5:112369777-112369778	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547880308	chr5:112369806-112369807	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12516502	chr5:112369824-112369825	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139123578	chr5:112369834-112369835	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149540160	chr5:112369847-112369848	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570002346	chr5:112369915-112369916	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79308089	chr5:112369934-112369935	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112735377	chr5:112369955-112369956	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372138453	chr5:112369973-112369974	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7447818	chr5:112369995-112369996	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs182491404	chr5:112370022-112370023	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144110782	chr5:112370034-112370035	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553118149	chr5:112370085-112370086	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189216880	chr5:112370093-112370094	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541823604	chr5:112370125-112370126	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563306883	chr5:112370155-112370156	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142515976	chr5:112370161-112370162	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575606439	chr5:112370162-112370163	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369110142	chr5:112370168-112370169	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527689409	chr5:112370169-112370170	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528306498	chr5:112370181-112370182	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192530721	chr5:112370279-112370280	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs878073	chr5:112370311-112370312	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs548610136	chr5:112370333-112370334	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375927612	chr5:112370339-112370340	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554349368	chr5:112370353-112370354	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369061105	chr5:112370410-112370411	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566948181	chr5:112370420-112370421	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368486174	chr5:112370421-112370422	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183071632	chr5:112370430-112370431	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187449697	chr5:112370432-112370433	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537297984	chr5:112370439-112370440	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553292203	chr5:112370443-112370444	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191933492	chr5:112370446-112370447	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150715420	chr5:112370447-112370448	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570921352	chr5:112370478-112370479	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:1445 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
3	chr5:112360000-112379000	Weak transcription	Small Intestine	intestine
4	chr5:112362800-112385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:112363000-112374000	Weak transcription	Pancreas	Pancrea
6	chr5:112363600-112379000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:112363600-112379000	Weak transcription	Brain Substantia Nigra	brain
8	chr5:112363600-112379200	Weak transcription	Gastric	stomach
9	chr5:112363600-112379200	Weak transcription	Spleen	Spleen
10	chr5:112363600-112382800	Weak transcription	Fetal Intestine Small	intestine
11	chr5:112363800-112371000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:112363800-112372000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:112363800-112372200	Weak transcription	Fetal Brain Female	brain
14	chr5:112363800-112376200	Weak transcription	Dnd41	blood
15	chr5:112363800-112384600	Weak transcription	Aorta	Aorta
16	chr5:112363800-112386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
19	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr5:112364000-112370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:112364000-112374200	Weak transcription	HUVEC	blood vessel
22	chr5:112364000-112374600	Weak transcription	Lung	lung
23	chr5:112364000-112379000	Weak transcription	Fetal Lung	lung
24	chr5:112364000-112389400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:112364200-112370400	Weak transcription	NHEK	skin
26	chr5:112364200-112386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:112364600-112372200	Weak transcription	Fetal Kidney	kidney
28	chr5:112364600-112379000	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:112364800-112370400	Weak transcription	HMEC	breast
30	chr5:112364800-112378800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:112364800-112382800	Weak transcription	Fetal Intestine Large	intestine
32	chr5:112364800-112382800	Weak transcription	Fetal Thymus	thymus
33	chr5:112365400-112371400	Enhancers	NH-A	brain
34	chr5:112365400-112372000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:112365600-112370000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr5:112365600-112370000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:112365600-112372000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:112365600-112376400	Weak transcription	Primary T cells from cord blood	blood
39	chr5:112365800-112372000	Weak transcription	Esophagus	oesophagus
40	chr5:112365800-112376800	Weak transcription	Thymus	Thymus
41	chr5:112365800-112382200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:112366000-112371800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:112366200-112369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:112366400-112369800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr5:112366600-112379200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr5:112367000-112369800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr5:112367600-112369600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr5:112367600-112369600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:112367600-112369800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:112367600-112369800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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