Variant report

Variant	nsv889390
Chromosome Location	chr7:146111034-146239545
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146161322..146163893-chr7:146165788..146167322,2	K562	blood:
2	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
3	chr7:146143168..146145467-chr7:146146129..146147911,2	MCF-7	breast:
4	chr7:146185198..146188114-chr7:146194009..146195927,2	K562	blood:
5	chr7:146185198..146188114-chr7:146194009..146195927,2	K562	blood:
6	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
7	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
8	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
9	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
10	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
11	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
12	chr7:146161322..146163893-chr7:146165788..146167322,2	K562	blood:
13	chr7:146143168..146145467-chr7:146146129..146147911,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TPK1-4	chr7:146113435-146113645	NONHSAT123948

No data

Extended variants
information (count: 1609 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1609 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs940961	chr7:146111034-146111035	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565467325	chr7:146111059-146111060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147574066	chr7:146111086-146111087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557940380	chr7:146111140-146111141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577813101	chr7:146111144-146111145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12667234	chr7:146111176-146111177	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546909608	chr7:146111188-146111189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189172619	chr7:146111215-146111216	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574064818	chr7:146111223-146111224	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181197905	chr7:146111233-146111234	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs2022220	chr7:146111268-146111269	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186208709	chr7:146111288-146111289	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs535483841	chr7:146111317-146111318	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs73738759	chr7:146111391-146111392	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs376271801	chr7:146111403-146111404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs940960	chr7:146111417-146111418	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557128455	chr7:146111425-146111426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565480255	chr7:146111445-146111446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370083371	chr7:146111466-146111467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531061241	chr7:146111470-146111471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2016604	chr7:146111478-146111479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373538747	chr7:146111485-146111486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189926805	chr7:146111496-146111497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141367921	chr7:146111513-146111514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567653507	chr7:146111568-146111569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6464759	chr7:146111572-146111573	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs180677686	chr7:146111609-146111610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186118794	chr7:146111616-146111617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534718315	chr7:146111624-146111625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113579157	chr7:146111636-146111637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557614698	chr7:146111645-146111646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545902003	chr7:146111653-146111654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs940959	chr7:146111683-146111684	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs940958	chr7:146111700-146111701	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557196832	chr7:146111733-146111734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574004067	chr7:146111778-146111779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536613622	chr7:146111803-146111804	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs553411715	chr7:146111827-146111828	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs573330479	chr7:146111837-146111838	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs141946946	chr7:146112020-146112021	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs376419106	chr7:146112039-146112040	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs111879337	chr7:146112042-146112043	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs190854012	chr7:146112099-146112100	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs183444579	chr7:146112119-146112120	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs35635447	chr7:146112123-146112124	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs397694353	chr7:146112125-146112126	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs185782590	chr7:146112134-146112135	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs190638178	chr7:146112172-146112173	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs530343523	chr7:146112274-146112275	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs1405171	chr7:146112287-146112288	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Epilepsy	20502679	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146109200-146112000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:146109400-146112400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:146109400-146112600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:146109400-146112600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:146109400-146112800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:146109600-146112400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:146110000-146111200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:146110400-146111800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:146110600-146111600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:146111000-146112400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:146111200-146111400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:146111200-146111800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:146111400-146111600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:146111400-146111800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:146111600-146111800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:146111600-146112200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:146111600-146112400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:146111600-146112400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:146111800-146112400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:146111800-146112400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr7:146111800-146112400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:146112200-146112400	Enhancers	Brain Germinal Matrix	brain
23	chr7:146112400-146113400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:146113400-146113600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:146113400-146113600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:146113400-146113800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:146113400-146114000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:146113400-146114000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:146113800-146114200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:146114000-146115200	Enhancers	Brain Germinal Matrix	brain
31	chr7:146114400-146114600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:146128000-146128200	Enhancers	Fetal Brain Male	brain
33	chr7:146128400-146130200	Weak transcription	Fetal Brain Male	brain
34	chr7:146129800-146130200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:146129800-146130400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:146129800-146130400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:146130200-146131400	Enhancers	Fetal Brain Male	brain
38	chr7:146131000-146131400	Enhancers	Fetal Brain Female	brain
39	chr7:146134200-146134400	Enhancers	Pancreas	Pancrea
40	chr7:146178400-146179000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:146178600-146179200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:146182400-146182800	Enhancers	Fetal Brain Female	brain
43	chr7:146182800-146184800	Weak transcription	Fetal Brain Female	brain
44	chr7:146183400-146183600	Enhancers	Fetal Brain Male	brain
45	chr7:146183600-146184200	Weak transcription	Fetal Brain Male	brain
46	chr7:146184200-146185200	Enhancers	Fetal Brain Male	brain
47	chr7:146184800-146185200	Enhancers	Fetal Brain Female	brain
48	chr7:146186800-146187000	ZNF genes & repeats	Pancreas	Pancrea
49	chr7:146188400-146188800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:146191800-146193200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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