Variant report

Variant	esv1817377
Chromosome Location	chr5:112373682-112389837
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112387805..112389786-chr5:112405042..112406689,2	K562	blood:
2	chr5:112372620..112374480-chr5:112377239..112378903,2	K562	blood:
3	chr5:112256096..112258647-chr5:112382591..112384818,2	K562	blood:
4	chr5:112384021..112386512-chr5:112388336..112390508,4	K562	blood:
5	chr5:112384021..112386512-chr5:112388336..112390508,4	K562	blood:
6	chr5:112373432..112375747-chr5:112376830..112379641,2	K562	blood:
7	chr5:112378867..112380762-chr5:112388761..112390439,2	K562	blood:
8	chr5:112377774..112380762-chr5:112388761..112390824,2	K562	blood:
9	chr5:112372620..112374480-chr5:112377239..112378903,2	K562	blood:
10	chr5:112368998..112372284-chr5:112372465..112374362,3	K562	blood:
11	chr5:112372883..112375761-chr5:112416823..112419304,2	K562	blood:
12	chr5:112377774..112380762-chr5:112388761..112390824,2	K562	blood:
13	chr5:112373432..112375747-chr5:112376830..112379641,2	K562	blood:
14	chr5:112378867..112380762-chr5:112388761..112390439,2	K562	blood:
15	chr5:112378846..112379838-chr5:112666004..112666840,2	MCF-7	breast:
16	chr5:112367536..112370083-chr5:112388542..112390283,2	K562	blood:
17	chr5:112370113..112371972-chr5:112381574..112383609,2	MCF-7	breast:
18	chr5:112388639..112390521-chr5:112391893..112394492,2	MCF-7	breast:
19	chr5:112381725..112385379-chr5:112386016..112389315,3	MCF-7	breast:
20	chr5:112381725..112385379-chr5:112386016..112389315,3	MCF-7	breast:
21	chr5:112363970..112366861-chr5:112379639..112381179,2	K562	blood:
22	chr5:112384421..112386665-chr5:112391243..112394084,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129625	chromatin interactions

Extended variants
information (count: 813 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:813 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4075350	chr5:112373718-112373719	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572433324	chr5:112373731-112373732	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs55847800	chr5:112373746-112373747	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542796746	chr5:112373803-112373804	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554781057	chr5:112373806-112373807	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190049723	chr5:112373812-112373813	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558381229	chr5:112373852-112373853	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200738249	chr5:112373876-112373877	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs58525167	chr5:112373877-112373878	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74991383	chr5:112373904-112373905	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534540086	chr5:112373914-112373915	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564683397	chr5:112373924-112373925	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532146594	chr5:112373972-112373973	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541307843	chr5:112373983-112373984	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147246385	chr5:112374042-112374043	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530053895	chr5:112374043-112374044	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140670965	chr5:112374051-112374052	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77476813	chr5:112374062-112374063	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531662393	chr5:112374064-112374065	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552716243	chr5:112374079-112374080	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550258555	chr5:112374086-112374087	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571517545	chr5:112374095-112374096	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181350417	chr5:112374113-112374114	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371082715	chr5:112374145-112374146	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78885198	chr5:112374148-112374149	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373520153	chr5:112374181-112374182	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566022875	chr5:112374183-112374184	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144737931	chr5:112374204-112374205	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186363802	chr5:112374229-112374230	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554816663	chr5:112374243-112374244	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144718730	chr5:112374297-112374298	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189838864	chr5:112374373-112374374	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536711307	chr5:112374377-112374378	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180750507	chr5:112374391-112374392	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6594658	chr5:112374408-112374409	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541014400	chr5:112374429-112374430	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13436313	chr5:112374438-112374439	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528724785	chr5:112374501-112374502	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574782502	chr5:112374504-112374505	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556827578	chr5:112374545-112374546	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542148664	chr5:112374554-112374555	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563299607	chr5:112374557-112374558	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6594659	chr5:112374562-112374563	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs552115813	chr5:112374563-112374564	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565362939	chr5:112374579-112374580	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566619515	chr5:112374580-112374581	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532509801	chr5:112374591-112374592	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543751765	chr5:112374592-112374593	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115966516	chr5:112374595-112374596	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186439417	chr5:112374622-112374623	Weak transcription Strong transcription Enhancers Genic enhancers	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:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112360000-112379000	Weak transcription	Small Intestine	intestine
2	chr5:112362800-112385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:112363000-112374000	Weak transcription	Pancreas	Pancrea
4	chr5:112363600-112379000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:112363600-112379000	Weak transcription	Brain Substantia Nigra	brain
6	chr5:112363600-112379200	Weak transcription	Gastric	stomach
7	chr5:112363600-112379200	Weak transcription	Spleen	Spleen
8	chr5:112363600-112382800	Weak transcription	Fetal Intestine Small	intestine
9	chr5:112363800-112376200	Weak transcription	Dnd41	blood
10	chr5:112363800-112384600	Weak transcription	Aorta	Aorta
11	chr5:112363800-112386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
14	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:112364000-112374200	Weak transcription	HUVEC	blood vessel
16	chr5:112364000-112374600	Weak transcription	Lung	lung
17	chr5:112364000-112379000	Weak transcription	Fetal Lung	lung
18	chr5:112364000-112389400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:112364200-112386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:112364600-112379000	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:112364800-112378800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:112364800-112382800	Weak transcription	Fetal Intestine Large	intestine
23	chr5:112364800-112382800	Weak transcription	Fetal Thymus	thymus
24	chr5:112365600-112376400	Weak transcription	Primary T cells from cord blood	blood
25	chr5:112365800-112376800	Weak transcription	Thymus	Thymus
26	chr5:112365800-112382200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:112366600-112379200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:112367600-112378200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:112368800-112379400	Strong transcription	Fetal Stomach	stomach
30	chr5:112368800-112382800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:112369000-112379000	Weak transcription	Psoas Muscle	Psoas
32	chr5:112369200-112378800	Weak transcription	Fetal Heart	heart
33	chr5:112369200-112380200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:112369400-112377400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:112369400-112382800	Strong transcription	Liver	Liver
36	chr5:112369800-112378000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:112370200-112379200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr5:112370200-112406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:112370600-112382800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:112370600-112396600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:112371000-112374400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:112371000-112383400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:112371200-112373800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:112371200-112373800	Weak transcription	NHEK	skin
45	chr5:112371200-112374000	Weak transcription	Osteobl	bone
46	chr5:112371200-112374400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:112371200-112374400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:112371200-112378600	Weak transcription	Right Atrium	heart
49	chr5:112371400-112373800	Weak transcription	NHDF-Ad	bronchial
50	chr5:112371400-112374000	Weak transcription	Muscle Satellite Cultured Cells	--

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