Variant report

Variant	nsv965533
Chromosome Location	chr5:118738884-118762384
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:65)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:118760077..118762768-chr5:118762980..118764985,2	K562	blood:
2	chr5:118734827..118736756-chr5:118738369..118740930,2	K562	blood:
3	chr5:118323143..118324569-chr5:118747458..118748790,7	MCF-7	breast:
4	chr5:118754174..118756633-chr5:118758402..118759986,2	MCF-7	breast:
5	chr5:118738573..118740948-chr5:118745923..118747452,2	K562	blood:
6	chr5:118737931..118739741-chr5:118741169..118742810,2	K562	blood:
7	chr5:118753173..118755307-chr5:118768998..118771173,2	MCF-7	breast:
8	chr12:49075806..49076378-chr5:118747635..118748388,2	Hela-S3	cervix:
9	chr5:118656369..118659015-chr5:118750147..118752975,4	K562	blood:
10	chr5:118602609..118607395-chr5:118746240..118749056,4	MCF-7	breast:
11	chr5:118629010..118630794-chr5:118752161..118754078,2	K562	blood:
12	chr5:118739304..118742654-chr5:118752620..118755578,3	K562	blood:
13	chr5:118322603..118326136-chr5:118745091..118748767,5	MCF-7	breast:
14	chr5:118738543..118740922-chr5:118742917..118745688,4	K562	blood:
15	chr5:118357582..118358760-chr5:118747481..118748200,3	MCF-7	breast:
16	chr5:118740750..118742654-chr5:118753714..118755578,2	K562	blood:
17	chr5:118357259..118357861-chr5:118747519..118748249,2	K562	blood:
18	chr5:118323688..118325465-chr5:118745878..118747588,2	MCF-7	breast:
19	chr5:118745362..118747706-chr5:118750248..118751868,2	K562	blood:
20	chr5:118323769..118324283-chr5:118747494..118748090,2	MCF-7	breast:
21	chr5:118745362..118747706-chr5:118750248..118751868,2	K562	blood:
22	chr5:118603398..118605235-chr5:118750769..118753133,2	MCF-7	breast:
23	chr5:118753692..118754236-chr6:26250478..26251239,2	NB4	blood:
24	chr5:118323105..118324704-chr5:118747352..118748403,7	K562	blood:
25	chr5:118405948..118407537-chr5:118753041..118754895,2	MCF-7	breast:
26	chr5:118747505..118748328-chr5:118770657..118771776,5	MCF-7	breast:
27	chr5:118739304..118742654-chr5:118752620..118755578,3	K562	blood:
28	chr5:118368716..118371473-chr5:118745001..118746920,2	K562	blood:
29	chr5:118732923..118735569-chr5:118740820..118742719,2	MCF-7	breast:
30	chr1:78148836..78149503-chr5:118753345..118754288,2	NB4	blood:
31	chr5:118651201..118652914-chr5:118746753..118748686,2	K562	blood:
32	chr5:118357310..118358382-chr5:118747153..118748053,5	MCF-7	breast:
33	chr5:118747162..118749496-chr5:118752473..118755239,2	K562	blood:
34	chr5:118651113..118651977-chr5:118744627..118745684,3	MCF-7	breast:
35	chr5:118735386..118738101-chr5:118752192..118755044,3	K562	blood:
36	chr5:118655474..118659015-chr5:118750147..118754859,4	K562	blood:
37	chr5:118735517..118740583-chr5:118741661..118745688,4	K562	blood:
38	chr5:118604990..118607098-chr5:118752315..118754043,2	K562	blood:
39	chr5:118734864..118737274-chr5:118738803..118740813,2	MCF-7	breast:
40	chr5:118735517..118740583-chr5:118741661..118745688,4	K562	blood:
41	chr5:118737931..118739741-chr5:118741169..118742810,2	K562	blood:
42	chr5:118604013..118605667-chr5:118746438..118748354,2	MCF-7	breast:
43	chr5:118322780..118324776-chr5:118741161..118743170,2	K562	blood:
44	chr5:118733874..118736884-chr5:118738369..118742486,6	K562	blood:
45	chr5:118753614..118755538-chr5:118867454..118869085,2	K562	blood:
46	chr5:118754174..118756633-chr5:118758402..118759986,2	MCF-7	breast:
47	chr5:118735372..118737947-chr5:118745123..118746974,2	MCF-7	breast:
48	chr5:118668038..118668652-chr5:118747446..118748001,2	MCF-7	breast:
49	chr5:118653698..118656390-chr5:118740909..118743289,2	K562	blood:
50	chr5:118747162..118749496-chr5:118752473..118755239,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000036549	chromatin interactions
ENSG00000139620	chromatin interactions
ENSG00000169570	chromatin interactions
ENSG00000145779	chromatin interactions
ENSG00000172869	chromatin interactions
ENSG00000249494	chromatin interactions
ENSG00000256316	chromatin interactions

Extended variants
information (count: 922 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:922 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192564824	chr5:118738893-118738894	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs72788145	chr5:118738916-118738917	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs32667	chr5:118738946-118738947	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184952894	chr5:118738968-118738969	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs76429389	chr5:118738985-118738986	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs144621454	chr5:118739038-118739039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538058687	chr5:118739045-118739046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551349325	chr5:118739083-118739084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139046431	chr5:118739084-118739085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533542302	chr5:118739099-118739100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80168910	chr5:118739135-118739136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573388261	chr5:118739161-118739162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189067329	chr5:118739354-118739355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556245671	chr5:118739410-118739411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549624200	chr5:118739423-118739424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142366409	chr5:118739443-118739444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544793081	chr5:118739506-118739507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564619439	chr5:118739513-118739514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578259877	chr5:118739515-118739516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540613154	chr5:118739528-118739529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140833236	chr5:118739530-118739531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191550068	chr5:118739531-118739532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369826029	chr5:118739532-118739533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529323648	chr5:118739543-118739544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549171767	chr5:118739606-118739607	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs145949360	chr5:118739705-118739706	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201274544	chr5:118739706-118739707	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs72788146	chr5:118739707-118739708	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs6894901	chr5:118739748-118739749	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6895052	chr5:118739809-118739810	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548240883	chr5:118739822-118739823	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs376062549	chr5:118739830-118739831	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546968327	chr5:118739863-118739864	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs566894332	chr5:118739872-118739873	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs547147590	chr5:118739892-118739893	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs555939128	chr5:118739893-118739894	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs4895371	chr5:118739934-118739935	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs6873585	chr5:118739938-118739939	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184839107	chr5:118740031-118740032	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs189615947	chr5:118740063-118740064	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540899877	chr5:118740072-118740073	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs200162317	chr5:118740092-118740093	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs139852373	chr5:118740097-118740098	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs148693345	chr5:118740113-118740114	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs35814182	chr5:118740116-118740117	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs72788148	chr5:118740135-118740136	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543014049	chr5:118740149-118740150	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs578254352	chr5:118740167-118740168	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs562841096	chr5:118740171-118740172	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs531875747	chr5:118740177-118740178	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastric cancer	17229543	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:118723000-118747600	Weak transcription	Pancreas	Pancrea
3	chr5:118725400-118741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:118727000-118740800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:118729600-118747400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:118730200-118741000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:118731800-118746600	Weak transcription	Primary T cells from cord blood	blood
8	chr5:118732200-118745000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:118734000-118747400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:118734200-118741200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:118735000-118739200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:118735000-118739200	Weak transcription	NHLF	lung
13	chr5:118735000-118747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:118735200-118739400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:118735400-118740600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:118735800-118739400	Weak transcription	Primary B cells from cord blood	blood
17	chr5:118735800-118745200	Weak transcription	Fetal Thymus	thymus
18	chr5:118735800-118746200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:118736200-118740600	Weak transcription	Stomach Mucosa	stomach
20	chr5:118736200-118740800	Weak transcription	Fetal Heart	heart
21	chr5:118736400-118739600	Weak transcription	GM12878-XiMat	blood
22	chr5:118736400-118746600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:118736600-118739800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:118736800-118745000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:118736800-118747400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:118737800-118739000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr5:118737800-118739400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:118737800-118739400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:118737800-118739600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:118737800-118739800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:118737800-118739800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:118738000-118741400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:118738200-118739000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:118738400-118739000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:118738600-118739000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:118738600-118741000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:118738600-118745200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:118738800-118739000	Enhancers	K562	blood
39	chr5:118738800-118739600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:118738800-118739600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:118739000-118739400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:118739000-118739800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:118739000-118740800	Weak transcription	K562	blood
44	chr5:118739000-118741000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:118739000-118746200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:118739200-118739600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr5:118739400-118740600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:118739400-118740800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:118739400-118741600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr5:118739400-118742800	Enhancers	Primary B cells from cord blood	blood

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