Variant report

Variant	nsv471281
Chromosome Location	chr9:11453474-11716862
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:11687941..11690802-chr9:11691495..11694345,3	K562	blood:
2	chr9:11701463..11703909-chr9:11703963..11706145,2	K562	blood:
3	chr17:41381793..41383489-chr9:11453391..11454891,3	K562	blood:
4	chr9:11701463..11703909-chr9:11703963..11706145,2	K562	blood:
5	chr11:62609117..62610638-chr9:11453391..11454911,2	K562	blood:
6	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:
7	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:
8	chr9:11687941..11690802-chr9:11691495..11694345,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 3974 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:3974 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2050429	chr9:11453474-11453475	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576067284	chr9:11453503-11453504	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542205075	chr9:11453532-11453533	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2050428	chr9:11453540-11453541	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs61088866	chr9:11453569-11453570	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs113505857	chr9:11453644-11453645	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs527769679	chr9:11453675-11453676	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547540561	chr9:11453688-11453689	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs560413252	chr9:11453689-11453690	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs532300554	chr9:11453703-11453704	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552510769	chr9:11453705-11453706	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs117795119	chr9:11453713-11453714	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs4297123	chr9:11453749-11453750	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548150333	chr9:11453796-11453797	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs149880453	chr9:11453800-11453801	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs551854372	chr9:11453805-11453806	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs569156396	chr9:11453812-11453813	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs4579620	chr9:11453818-11453819	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577031238	chr9:11453838-11453839	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs539635391	chr9:11453842-11453843	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs375382116	chr9:11453860-11453861	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs188020382	chr9:11453876-11453877	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs541758033	chr9:11453903-11453904	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs548377388	chr9:11453923-11453924	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs77582516	chr9:11453926-11453927	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs370277849	chr9:11453935-11453936	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568156213	chr9:11453946-11453947	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs562129592	chr9:11453950-11453951	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs545778218	chr9:11453978-11453979	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572324182	chr9:11453984-11453985	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs541521343	chr9:11454010-11454011	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs144875062	chr9:11454084-11454085	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs192482437	chr9:11454119-11454120	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs73393611	chr9:11454148-11454149	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182466645	chr9:11454167-11454168	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs142296604	chr9:11454178-11454179	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs548155595	chr9:11454254-11454255	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs568051381	chr9:11454264-11454265	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs144542348	chr9:11454288-11454289	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs547509704	chr9:11454290-11454291	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs10809484	chr9:11454295-11454296	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187472921	chr9:11454304-11454305	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs556324237	chr9:11454337-11454338	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs576195546	chr9:11454342-11454343	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs75016973	chr9:11454350-11454351	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs555739646	chr9:11454388-11454389	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs147845708	chr9:11454432-11454433	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs192948737	chr9:11454467-11454468	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs539049549	chr9:11454472-11454473	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs115305623	chr9:11454483-11454484	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Cancer	20164920	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	18511947	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11455000-11455200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr9:11455200-11457200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:11456000-11456400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr9:11456400-11456800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:11456400-11458800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:11456600-11457400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr9:11456600-11457400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr9:11456800-11457000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr9:11456800-11457000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr9:11456800-11457200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:11457000-11457200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:11457000-11458000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr9:11457000-11458000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr9:11457000-11458800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr9:11457200-11457400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:11457200-11457400	Enhancers	Fetal Brain Female	brain
17	chr9:11457200-11457400	Enhancers	Fetal Kidney	kidney
18	chr9:11457200-11457400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr9:11457200-11457600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr9:11457200-11457600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:11457200-11457800	Enhancers	Fetal Brain Male	brain
22	chr9:11457200-11458000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:11457200-11458600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:11457200-11459000	Enhancers	Fetal Heart	heart
25	chr9:11457400-11457800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:11457400-11458000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr9:11457400-11458000	Weak transcription	Fetal Kidney	kidney
28	chr9:11457400-11458200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:11457400-11458200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr9:11457400-11458400	Weak transcription	Fetal Brain Female	brain
31	chr9:11457600-11458000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr9:11457600-11458600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr9:11457800-11458200	Weak transcription	Fetal Brain Male	brain
34	chr9:11457800-11459000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr9:11458000-11458200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr9:11458000-11458600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:11458000-11458600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:11458000-11458800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr9:11458000-11458800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr9:11458000-11458800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:11458000-11458800	Enhancers	Fetal Kidney	kidney
42	chr9:11458000-11459000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr9:11458000-11459000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr9:11458200-11458400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr9:11458200-11458600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:11458200-11458600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr9:11458200-11458800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr9:11458200-11458800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:11458200-11458800	Enhancers	Brain Cingulate Gyrus	brain
50	chr9:11458200-11460000	Enhancers	Fetal Brain Male	brain

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