Variant report

Variant	nsv1016178
Chromosome Location	chr9:13486352-13502124
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:13486936..13489279-chr9:13509776..13512119,2	MCF-7	breast:
2	chr9:13478234..13480569-chr9:13486297..13488597,2	MCF-7	breast:
3	chr9:13488175..13490333-chr9:13491213..13494112,2	MCF-7	breast:
4	chr9:13485217..13487290-chr9:14313191..14315522,2	MCF-7	breast:
5	chr9:13488175..13490333-chr9:13491213..13494112,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf146-3	chr9:13487102-13487510	ENSG00000226197.2
2	lnc-C9orf146-3	chr9:13487102-13487510	ENSG00000226197

No data

Variant related genes	Relation type
ENSG00000147862	chromatin interactions

Extended variants
information (count: 677 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:677 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572399493	chr9:13486381-13486382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369875315	chr9:13486387-13486388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564589018	chr9:13486388-13486389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373767177	chr9:13486424-13486425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533276686	chr9:13486455-13486456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4741303	chr9:13486456-13486457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs71491609	chr9:13486486-13486487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559795142	chr9:13486487-13486488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77136030	chr9:13486512-13486513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369873329	chr9:13486514-13486515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73648239	chr9:13486598-13486599	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375493527	chr9:13486604-13486605	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549256175	chr9:13486617-13486618	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568420356	chr9:13486633-13486634	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565876229	chr9:13486654-13486655	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs1333994	chr9:13486759-13486760	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs181939069	chr9:13486791-13486792	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187439620	chr9:13486810-13486811	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551750040	chr9:13486811-13486812	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556752887	chr9:13486834-13486835	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550122295	chr9:13486836-13486837	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191456167	chr9:13486852-13486853	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536100718	chr9:13486859-13486860	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556015571	chr9:13486861-13486862	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571692713	chr9:13486888-13486889	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139537876	chr9:13486901-13486902	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374882560	chr9:13486937-13486938	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541392737	chr9:13487026-13487027	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557887419	chr9:13487113-13487114	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs181462837	chr9:13487114-13487115	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs543515316	chr9:13487126-13487127	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs142792124	chr9:13487156-13487157	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs529046227	chr9:13487166-13487167	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs556743460	chr9:13487262-13487263	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs542494733	chr9:13487281-13487282	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs559578903	chr9:13487318-13487319	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs150638585	chr9:13487320-13487321	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs551325286	chr9:13487341-13487342	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs571270367	chr9:13487353-13487354	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs530572638	chr9:13487354-13487355	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs528557473	chr9:13487428-13487429	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs372424727	chr9:13487435-13487436	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs77664232	chr9:13487449-13487450	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs567406365	chr9:13487510-13487511	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs185998970	chr9:13487595-13487596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555710989	chr9:13487634-13487635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566334385	chr9:13487656-13487657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535021672	chr9:13487657-13487658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558086208	chr9:13487662-13487663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577613710	chr9:13487664-13487665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13476200-13487200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:13477800-13491800	Weak transcription	Right Ventricle	heart
3	chr9:13481000-13490000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr9:13481000-13491800	Weak transcription	Pancreas	Pancrea
5	chr9:13483000-13487800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr9:13484600-13491400	Weak transcription	Aorta	Aorta
7	chr9:13484600-13491800	Weak transcription	Left Ventricle	heart
8	chr9:13484600-13493600	Weak transcription	Right Atrium	heart
9	chr9:13485200-13492000	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:13485600-13489000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:13485600-13490600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:13485800-13487000	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:13485800-13487400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:13485800-13488000	Weak transcription	Fetal Heart	heart
15	chr9:13486200-13487200	Weak transcription	HMEC	breast
16	chr9:13486200-13490200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:13486600-13487200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr9:13487000-13487600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr9:13487200-13487400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr9:13487200-13487400	Enhancers	Colon Smooth Muscle	Colon
21	chr9:13487200-13488800	Enhancers	HMEC	breast
22	chr9:13487200-13489000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:13487200-13490000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:13487400-13487800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:13487600-13488000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr9:13487600-13489800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr9:13487800-13488200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr9:13487800-13488200	Enhancers	NHEK	skin
29	chr9:13487800-13489200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:13488000-13488200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr9:13488000-13488200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr9:13488000-13488200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr9:13488000-13488800	Enhancers	Fetal Heart	heart
34	chr9:13488200-13490000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:13488200-13490200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr9:13488200-13495000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr9:13488600-13488800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:13488800-13491000	Weak transcription	HMEC	breast
39	chr9:13488800-13491400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:13489000-13489400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:13489000-13491800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:13489600-13491200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr9:13489800-13490400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr9:13489800-13491200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr9:13489800-13491800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr9:13489800-13495000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr9:13490000-13490200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:13490000-13490400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr9:13490000-13491200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:13490000-13491800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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