Variant report

Variant	nsv892587
Chromosome Location	chr9:13601074-13732363
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:13666426..13668070-chr9:13672075..13673636,2	K562	blood:
2	chr9:13725307..13728177-chr9:13730804..13732706,2	K562	blood:
3	chr6:116274902..116275536-chr9:13688718..13689412,2	MCF-7	breast:
4	chr9:13666426..13668070-chr9:13672075..13673636,2	K562	blood:
5	chr9:13726448..13728471-chr9:13729795..13732629,2	MCF-7	breast:
6	chr9:13446842..13447486-chr9:13688897..13689613,3	MCF-7	breast:
7	chr9:13726448..13728471-chr9:13729795..13732629,2	MCF-7	breast:
8	chr9:13607383..13609479-chr9:13614274..13617159,2	MCF-7	breast:
9	chr9:13686906..13689504-chr9:14312996..14314764,2	MCF-7	breast:
10	chr9:13725307..13728177-chr9:13730804..13732706,2	K562	blood:
11	chr9:13607383..13609479-chr9:13614274..13617159,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147862	chromatin interactions

Extended variants
information (count: 5241 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:5241 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1590409	chr9:13601074-13601075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551988421	chr9:13601103-13601104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568800683	chr9:13601120-13601121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531546573	chr9:13601148-13601149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147661321	chr9:13601183-13601184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372551890	chr9:13601203-13601204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73402429	chr9:13601207-13601208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200571245	chr9:13601215-13601216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78933781	chr9:13601224-13601225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397799096	chr9:13601226-13601227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113219719	chr9:13601227-13601228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199946094	chr9:13601228-13601229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73402432	chr9:13601263-13601264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs76487082	chr9:13601272-13601273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117663522	chr9:13601273-13601274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184971556	chr9:13601287-13601288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140747245	chr9:13601293-13601294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575964879	chr9:13601329-13601330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144709915	chr9:13601400-13601401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552564471	chr9:13601478-13601479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189633722	chr9:13601492-13601493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574763066	chr9:13601508-13601509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73402436	chr9:13601519-13601520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560368863	chr9:13601523-13601524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73402438	chr9:13601531-13601532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs367707768	chr9:13601547-13601548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529455814	chr9:13601598-13601599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549136550	chr9:13601633-13601634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182316920	chr9:13601636-13601637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531461072	chr9:13601661-13601662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10738338	chr9:13601693-13601694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs79790329	chr9:13601697-13601698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147522040	chr9:13601716-13601717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527268689	chr9:13601735-13601736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371068630	chr9:13601769-13601770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548647079	chr9:13601783-13601784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547402046	chr9:13601822-13601823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10733263	chr9:13601828-13601829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs59568565	chr9:13601841-13601842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187744532	chr9:13601880-13601881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74533793	chr9:13601906-13601907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145785263	chr9:13601987-13601988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554943362	chr9:13601988-13601989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61604973	chr9:13602099-13602100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs540256934	chr9:13602100-13602101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370683947	chr9:13602120-13602121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148864204	chr9:13602141-13602142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545901842	chr9:13602157-13602158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571658859	chr9:13602162-13602163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562305700	chr9:13602171-13602172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:720 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13596600-13607800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:13596600-13607800	Weak transcription	Psoas Muscle	Psoas
3	chr9:13597600-13606200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:13597600-13606200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr9:13597600-13606200	Weak transcription	Adipose Nuclei	Adipose
6	chr9:13597600-13606400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:13600200-13607600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:13602800-13603600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:13603200-13604200	Enhancers	Fetal Muscle Trunk	muscle
10	chr9:13603400-13604000	Enhancers	Right Ventricle	heart
11	chr9:13603600-13603800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:13603600-13604000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:13603600-13605000	Weak transcription	NH-A	brain
14	chr9:13603600-13605800	Enhancers	HUVEC	blood vessel
15	chr9:13603800-13604200	Enhancers	Fetal Muscle Leg	muscle
16	chr9:13603800-13604200	Enhancers	Left Ventricle	heart
17	chr9:13603800-13604400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr9:13603800-13606000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:13604000-13604400	Weak transcription	Right Ventricle	heart
20	chr9:13604200-13606800	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:13604200-13607800	Weak transcription	Left Ventricle	heart
22	chr9:13604200-13608000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:13604400-13604600	Enhancers	Fetal Lung	lung
24	chr9:13604400-13604600	Enhancers	Right Ventricle	heart
25	chr9:13604400-13604600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr9:13604400-13604800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr9:13604600-13605200	Weak transcription	Fetal Lung	lung
28	chr9:13604600-13606200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:13604600-13606600	Weak transcription	Right Ventricle	heart
30	chr9:13604800-13605000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr9:13605000-13605200	Enhancers	NH-A	brain
32	chr9:13605000-13606400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr9:13605000-13608200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr9:13605200-13605400	Enhancers	Fetal Lung	lung
35	chr9:13605200-13606400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:13605200-13607800	Weak transcription	NH-A	brain
37	chr9:13605400-13606400	Weak transcription	Fetal Lung	lung
38	chr9:13605600-13608400	Enhancers	Fetal Heart	heart
39	chr9:13605800-13607800	Weak transcription	HUVEC	blood vessel
40	chr9:13606000-13608000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr9:13606200-13606600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr9:13606200-13607400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:13606200-13607600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:13606200-13607800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr9:13606200-13608000	Enhancers	Adipose Nuclei	Adipose
46	chr9:13606200-13608200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr9:13606200-13609200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr9:13606200-13609200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr9:13606400-13606600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr9:13606400-13607000	Enhancers	HUES48 Cell Line	embryonic stem cell

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