Variant report

Variant	nsv1053177
Chromosome Location	chr10:6453307-6473114
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6473077..6475570-chr10:6476821..6479194,2	K562	blood:
2	chr10:6472528..6475094-chr10:6479400..6481457,2	K562	blood:
3	chr10:6461189..6464390-chr10:6464587..6469079,4	K562	blood:
4	chr10:6458690..6459313-chr10:6709429..6710097,2	MCF-7	breast:
5	chr10:6458596..6459729-chr10:6709322..6710323,7	MCF-7	breast:
6	chr10:6458508..6459634-chr10:6719834..6720871,6	K562	blood:
7	chr10:6458631..6459170-chr10:6959961..6960564,2	MCF-7	breast:
8	chr10:5991888..5994036-chr10:6455402..6457636,2	MCF-7	breast:
9	chr10:6460876..6462689-chr10:6466756..6469527,2	K562	blood:
10	chr10:6447268..6450081-chr10:6450323..6453408,3	K562	blood:
11	chr10:6458664..6459503-chr10:6711186..6711839,2	MCF-7	breast:
12	chr10:6459005..6459621-chr10:6720304..6720891,2	MCF-7	breast:
13	chr10:6458537..6459096-chr3:64230180..64230700,2	MCF-7	breast:
14	chr10:6460876..6462689-chr10:6466756..6469527,2	K562	blood:
15	chr10:6458995..6459727-chr10:6709374..6710144,4	K562	blood:
16	chr10:6459550..6460149-chr10:6710298..6711001,2	MCF-7	breast:
17	chr10:6458632..6459783-chr10:6689843..6690499,3	MCF-7	breast:
18	chr10:6461189..6464390-chr10:6464587..6469079,4	K562	blood:
19	chr10:6470360..6472017-chr10:6474938..6476663,2	K562	blood:

No data

Extended variants
information (count: 831 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:831 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11592152	chr10:6453307-6453308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573872662	chr10:6453308-6453309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571167621	chr10:6453320-6453321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544140463	chr10:6453350-6453351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546296838	chr10:6453371-6453372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562708656	chr10:6453374-6453375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75493353	chr10:6453393-6453394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545155433	chr10:6453396-6453397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs616490	chr10:6453415-6453416	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187429006	chr10:6453428-6453429	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs527327942	chr10:6453430-6453431	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs192904426	chr10:6453479-6453480	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs11591682	chr10:6453487-6453488	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs605806	chr10:6453517-6453518	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550177981	chr10:6453524-6453525	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs544364464	chr10:6453544-6453545	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs10906468	chr10:6453580-6453581	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553878029	chr10:6453590-6453591	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs184709578	chr10:6453592-6453593	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs536289383	chr10:6453617-6453618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144102732	chr10:6453626-6453627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576314087	chr10:6453652-6453653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147285843	chr10:6453708-6453709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189524780	chr10:6453734-6453735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111592453	chr10:6453759-6453760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199803282	chr10:6453761-6453762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545218738	chr10:6453878-6453879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560327454	chr10:6453886-6453887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373572569	chr10:6453899-6453900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527390822	chr10:6453908-6453909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530549751	chr10:6453919-6453920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35510045	chr10:6453995-6453996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11258586	chr10:6454020-6454021	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139266119	chr10:6454030-6454031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531174748	chr10:6454120-6454121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs611505	chr10:6454122-6454123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs528088426	chr10:6454129-6454130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140642837	chr10:6454217-6454218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565418946	chr10:6454259-6454260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11258587	chr10:6454264-6454265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs612395	chr10:6454319-6454320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs612497	chr10:6454387-6454388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377028594	chr10:6454395-6454396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181590151	chr10:6454403-6454404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560769490	chr10:6454545-6454546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574130177	chr10:6454551-6454552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183547548	chr10:6454575-6454576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542752608	chr10:6454664-6454665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11258589	chr10:6454687-6454688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538893530	chr10:6454721-6454722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6450600-6454000	Enhancers	Fetal Lung	lung
2	chr10:6451400-6453600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr10:6451600-6453400	Enhancers	Colon Smooth Muscle	Colon
4	chr10:6451600-6453800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr10:6451800-6453800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr10:6451800-6453800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr10:6451800-6453800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr10:6452200-6453400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr10:6452200-6468200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:6452400-6453400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr10:6452400-6453400	Enhancers	Fetal Thymus	thymus
12	chr10:6452400-6453600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:6452400-6453600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr10:6452400-6454000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr10:6452400-6454200	Enhancers	Thymus	Thymus
16	chr10:6452600-6453600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:6452600-6454000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr10:6452600-6454800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr10:6452600-6478600	Weak transcription	Brain Anterior Caudate	brain
20	chr10:6452600-6481400	Weak transcription	Brain Substantia Nigra	brain
21	chr10:6452800-6457200	Weak transcription	Right Ventricle	heart
22	chr10:6452800-6464400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:6452800-6464600	Weak transcription	Primary T cells from cord blood	blood
24	chr10:6453000-6465600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:6453200-6465000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr10:6453200-6469200	Weak transcription	Dnd41	blood
27	chr10:6453200-6470800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr10:6453400-6453600	Bivalent Enhancer	HUVEC	blood vessel
29	chr10:6453400-6464200	Weak transcription	Fetal Thymus	thymus
30	chr10:6453400-6467800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:6453400-6469000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr10:6453600-6453800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:6453600-6467600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr10:6453800-6455400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:6454000-6472800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:6454200-6464800	Weak transcription	Thymus	Thymus
37	chr10:6456200-6496600	Weak transcription	Pancreas	Pancrea
38	chr10:6459000-6459200	Bivalent Enhancer	Fetal Kidney	kidney
39	chr10:6459200-6459800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr10:6459400-6459800	Enhancers	Fetal Muscle Leg	muscle
41	chr10:6459600-6460400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr10:6459800-6464600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr10:6459800-6469200	Weak transcription	Fetal Muscle Leg	muscle
44	chr10:6459800-6472600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr10:6460000-6460400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr10:6460000-6460600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr10:6460000-6460600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr10:6460200-6460600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr10:6460400-6460600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr10:6460400-6460800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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