Variant report

Variant	nsv466631
Chromosome Location	chr9:136944827-136993590
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:3)
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	chr9:136931980..136934490-chr9:136948173..136950156,2	K562	blood:
2	chr9:136856596..136858826-chr9:136986805..136989503,2	MCF-7	breast:
3	chr9:136657835..136658758-chr9:136963973..136964578,4	K562	blood:
4	chr9:136955254..136956773-chr9:136964647..136966788,2	MCF-7	breast:
5	chr9:136987581..136991620-chr9:136999080..137002104,8	MCF-7	breast:
6	chr9:136936468..136938178-chr9:136961890..136964663,2	MCF-7	breast:
7	chr9:136934778..136936960-chr9:136965343..136968102,2	K562	blood:
8	chr9:136924138..136926456-chr9:136992435..136994795,2	MCF-7	breast:
9	chr9:136968920..136970584-chr9:136990772..136992877,2	MCF-7	breast:
10	chr9:136608275..136608832-chr9:136966155..136966872,2	K562	blood:
11	chr9:136932544..136934724-chr9:136952923..136955342,2	MCF-7	breast:
12	chr9:136958564..136960340-chr9:136962963..136965312,2	MCF-7	breast:
13	chr9:136859431..136860674-chr9:136964030..136964900,5	MCF-7	breast:
14	chr9:136858439..136860470-chr9:136963479..136965806,2	MCF-7	breast:
15	chr9:136955254..136956773-chr9:136964647..136966788,2	MCF-7	breast:
16	chr9:136958564..136960340-chr9:136962963..136965312,2	MCF-7	breast:
17	chr9:136992413..136997235-chr9:136998349..137003411,7	K562	blood:
18	chr9:136966895..136967395-chr9:137427987..137428542,2	K562	blood:
19	chr9:136859325..136860777-chr9:136964002..136965283,7	MCF-7	breast:
20	chr9:136968920..136970584-chr9:136990772..136992877,2	MCF-7	breast:
21	chr9:136931852..136933427-chr9:136988020..136990522,2	MCF-7	breast:
22	chr9:136967534..136969174-chr9:136971059..136973731,2	MCF-7	breast:
23	chr9:136967534..136969174-chr9:136971059..136973731,2	MCF-7	breast:
24	chr9:136647017..136647900-chr9:136964007..136964904,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR5-6	chr9:136968818-136968857	NONHSAT135374
2	lnc-WDR5-6	chr9:136974582-136974862	NONHSAT135374
3	lnc-WDR5-6	chr9:136973135-136973275	NONHSAT135374

No data

Variant related genes	Relation type
ENSG00000196363	chromatin interactions
ENSG00000273249	chromatin interactions
ENSG00000169925	chromatin interactions
ENSG00000160293	chromatin interactions

Extended variants
information (count: 1605 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1605 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2427946	chr9:136946203-136946204	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13301584	chr9:136946217-136946218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77601026	chr9:136946268-136946269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538842636	chr9:136946293-136946294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75746465	chr9:136946311-136946312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77327300	chr9:136946316-136946317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142007782	chr9:136946343-136946344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180770360	chr9:136946362-136946363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78063444	chr9:136946411-136946412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540301047	chr9:136946416-136946417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145744896	chr9:136946449-136946450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576902595	chr9:136946460-136946461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544075664	chr9:136946479-136946480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562708587	chr9:136946493-136946494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199974655	chr9:136946530-136946531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574352287	chr9:136946535-136946536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541738717	chr9:136946590-136946591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115334660	chr9:136946597-136946598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2506700	chr9:136946612-136946613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546077144	chr9:136946616-136946617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148229097	chr9:136946630-136946631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141212009	chr9:136946673-136946674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78998346	chr9:136946734-136946735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150315780	chr9:136946754-136946755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184904317	chr9:136946762-136946763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76396043	chr9:136946769-136946770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2506699	chr9:136946799-136946800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546115989	chr9:136948198-136948199	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs114804377	chr9:136948212-136948213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561365884	chr9:136948228-136948229	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181194818	chr9:136948336-136948337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549320303	chr9:136948363-136948364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs73564635	chr9:136948408-136948409	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139168865	chr9:136948424-136948425	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546189327	chr9:136948444-136948445	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184021063	chr9:136948450-136948451	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113368298	chr9:136948465-136948466	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs115140084	chr9:136948471-136948472	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145232905	chr9:136948495-136948496	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569926171	chr9:136948514-136948515	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377547423	chr9:136948517-136948518	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs147648654	chr9:136948518-136948519	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs76830426	chr9:136948584-136948585	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368704700	chr9:136948585-136948586	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs539693265	chr9:136948625-136948626	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530399759	chr9:136948645-136948646	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs114732159	chr9:136948651-136948652	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs75872657	chr9:136948664-136948665	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs116654826	chr9:136948709-136948710	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576659381	chr9:136948770-136948771	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136946200-136946800	Enhancers	HepG2	liver
2	chr9:136948400-136949200	Enhancers	HMEC	breast
3	chr9:136948400-136949200	Enhancers	NHEK	skin
4	chr9:136948400-136949400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:136948400-136949400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:136948600-136949000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:136949600-136951400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:136953000-136953200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr9:136953000-136953400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:136953000-136953600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:136953000-136953600	Enhancers	NHEK	skin
12	chr9:136953000-136953800	Enhancers	Esophagus	oesophagus
13	chr9:136953200-136953400	Enhancers	Gastric	stomach
14	chr9:136953200-136953600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:136953200-136953600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:136953200-136953600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:136953200-136953600	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr9:136953400-136953600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:136953400-136968400	Weak transcription	Gastric	stomach
20	chr9:136953600-136955200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:136954800-136955000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:136955000-136955400	Bivalent Enhancer	HepG2	liver
23	chr9:136955200-136955400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:136958400-136959200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:136962800-136965200	Enhancers	HepG2	liver
26	chr9:136964000-136964200	Bivalent Enhancer	Hela-S3	cervix
27	chr9:136964200-136964400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:136964200-136964400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr9:136964200-136964400	Flanking Bivalent TSS/Enh	Hela-S3	cervix
30	chr9:136964400-136964800	Bivalent Enhancer	Hela-S3	cervix
31	chr9:136964400-136966800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:136965200-136966800	Bivalent Enhancer	HepG2	liver
33	chr9:136966600-136966800	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr9:136966600-136967000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:136966600-136967000	Enhancers	Fetal Intestine Large	intestine
36	chr9:136966600-136967200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr9:136966800-136967200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:136966800-136967200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:136966800-136967200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr9:136966800-136967200	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr9:136966800-136967400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:136967200-136967400	Bivalent Enhancer	Hela-S3	cervix
43	chr9:136967200-136967400	Bivalent Enhancer	HepG2	liver
44	chr9:136967200-136967800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:136968400-136968600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:136968400-136969200	ZNF genes & repeats	Gastric	stomach
47	chr9:136969200-136969400	Weak transcription	Gastric	stomach
48	chr9:136969400-136969600	Enhancers	Gastric	stomach
49	chr9:136974400-136974800	Enhancers	HepG2	liver
50	chr9:136974800-136979200	Weak transcription	HepG2	liver

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