Variant report

Variant	nsv613375
Chromosome Location	chr9:10172573-10277602
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:10195419..10198358-chr9:10209955..10212738,2	K562	blood:
2	chr9:10194645..10196647-chr9:10198778..10200840,2	K562	blood:
3	chr9:10245322..10247712-chr9:10249669..10252013,2	K562	blood:
4	chr9:10195419..10198358-chr9:10209955..10212738,2	K562	blood:
5	chr9:10194645..10196647-chr9:10198778..10200840,2	K562	blood:
6	chr9:10232139..10232838-chr9:10268581..10269404,3	MCF-7	breast:
7	chr9:10245322..10247712-chr9:10249669..10252013,2	K562	blood:
8	chr9:10045409..10046174-chr9:10268540..10269128,2	MCF-7	breast:
9	chr9:10060352..10060896-chr9:10268535..10269397,2	MCF-7	breast:
10	chr9:10232139..10232838-chr9:10268581..10269404,3	MCF-7	breast:

No data

Extended variants
information (count: 3848 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:3848 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12352128	chr9:10172573-10172574	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140302400	chr9:10172591-10172592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144475800	chr9:10172626-10172627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564563522	chr9:10172628-10172629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151233016	chr9:10172660-10172661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370524289	chr9:10172677-10172678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373218760	chr9:10172693-10172694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560687800	chr9:10172700-10172701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529790628	chr9:10172711-10172712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183003655	chr9:10172726-10172727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187964622	chr9:10172771-10172772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73641863	chr9:10172791-10172792	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139146313	chr9:10172796-10172797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569149901	chr9:10172798-10172799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149938721	chr9:10172804-10172805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548601239	chr9:10172813-10172814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145753628	chr9:10172846-10172847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192965936	chr9:10172861-10172862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554087554	chr9:10172881-10172882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577342266	chr9:10172907-10172908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560987766	chr9:10172917-10172918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529937711	chr9:10172928-10172929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201317896	chr9:10172940-10172941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140735397	chr9:10172941-10172942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370557054	chr9:10172942-10172943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539626182	chr9:10172947-10172948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371017262	chr9:10172994-10172995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576321042	chr9:10172998-10172999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71501057	chr9:10173008-10173009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4740444	chr9:10173020-10173021	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560069309	chr9:10173033-10173034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78206649	chr9:10173067-10173068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140585143	chr9:10173072-10173073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563646421	chr9:10173095-10173096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184280875	chr9:10173137-10173138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551971864	chr9:10173164-10173165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532365138	chr9:10173174-10173175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552384609	chr9:10173182-10173183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145694933	chr9:10173228-10173229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113500453	chr9:10173402-10173403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192109558	chr9:10173404-10173405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548613393	chr9:10173430-10173431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568408254	chr9:10173445-10173446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534057949	chr9:10173503-10173504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368493450	chr9:10173510-10173511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547900823	chr9:10173516-10173517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570843741	chr9:10173525-10173526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539687388	chr9:10173536-10173537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571363493	chr9:10173549-10173550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34484475	chr9:10173583-10173584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
abnormal development	18461090	CNVD
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
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
XY gonadal dysgenesis	20685758	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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	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
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10165400-10173600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:10168000-10173600	Weak transcription	Fetal Brain Male	brain
3	chr9:10172000-10174000	Enhancers	Fetal Heart	heart
4	chr9:10173600-10174400	Enhancers	Fetal Brain Male	brain
5	chr9:10173600-10174800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:10173800-10174200	Enhancers	Fetal Brain Female	brain
7	chr9:10186600-10187000	Enhancers	Fetal Heart	heart
8	chr9:10187000-10189400	Weak transcription	Fetal Heart	heart
9	chr9:10189400-10189600	Enhancers	Fetal Heart	heart
10	chr9:10191400-10191600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:10191800-10193000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:10192600-10193800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:10192800-10193400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:10193000-10193800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:10196600-10198600	Enhancers	Fetal Heart	heart
16	chr9:10196800-10198600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:10198200-10198600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:10198600-10208000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:10203000-10203800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:10203000-10203800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:10203200-10203600	Enhancers	Primary B cells from peripheral blood	blood
22	chr9:10203400-10203800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr9:10206200-10206400	Enhancers	Fetal Heart	heart
24	chr9:10206400-10207000	Weak transcription	Fetal Heart	heart
25	chr9:10207000-10207200	Enhancers	Fetal Heart	heart
26	chr9:10207800-10208000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr9:10207800-10208000	Weak transcription	Fetal Heart	heart
28	chr9:10207800-10208800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr9:10207800-10209200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr9:10207800-10209200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr9:10208000-10208200	Active TSS	Primary B cells from cord blood	blood
32	chr9:10208000-10208400	Active TSS	Fetal Intestine Small	intestine
33	chr9:10208000-10208600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr9:10208000-10208800	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr9:10208000-10208800	Active TSS	Primary B cells from peripheral blood	blood
36	chr9:10208000-10208800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:10208000-10208800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:10208000-10208800	Active TSS	Adipose Nuclei	Adipose
39	chr9:10208000-10208800	Active TSS	Colon Smooth Muscle	Colon
40	chr9:10208000-10208800	Active TSS	Fetal Brain Female	brain
41	chr9:10208000-10208800	Active TSS	Fetal Kidney	kidney
42	chr9:10208000-10208800	Active TSS	Fetal Lung	lung
43	chr9:10208000-10208800	Active TSS	Fetal Stomach	stomach
44	chr9:10208000-10208800	Active TSS	Right Ventricle	heart
45	chr9:10208000-10208800	Active TSS	A549	lung
46	chr9:10208000-10208800	Active TSS	HUVEC	blood vessel
47	chr9:10208000-10208800	Active TSS	NH-A	brain
48	chr9:10208000-10209000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr9:10208000-10209000	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr9:10208000-10209000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links