Variant report

Variant	nsv1017138
Chromosome Location	chr7:146102286-146318562
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:24)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
2	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
3	chr16:70557427..70557946-chr7:146244932..146245452,2	Hela-S3	cervix:
4	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
5	chr4:31335976..31336496-chr7:146308823..146309343,2	MCF-7	breast:
6	chr7:146185198..146188114-chr7:146194009..146195927,2	K562	blood:
7	chr7:146259240..146261148-chr7:146262758..146264665,2	K562	blood:
8	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
9	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
10	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
11	chr7:146161322..146163893-chr7:146165788..146167322,2	K562	blood:
12	chr7:146161322..146163893-chr7:146165788..146167322,2	K562	blood:
13	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
14	chr7:146299400..146301210-chr7:146301475..146303018,2	MCF-7	breast:
15	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
16	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
17	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
18	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
19	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
20	chr7:146299400..146301210-chr7:146301475..146303018,2	MCF-7	breast:
21	chr7:146185198..146188114-chr7:146194009..146195927,2	K562	blood:
22	chr7:146143168..146145467-chr7:146146129..146147911,2	MCF-7	breast:
23	chr7:146143168..146145467-chr7:146146129..146147911,2	MCF-7	breast:
24	chr7:146259240..146261148-chr7:146262758..146264665,2	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000189091	chromatin interactions
ENSG00000103051	chromatin interactions

Extended variants
information (count: 2264 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2264 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540722770	chr7:146102294-146102295	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs114917398	chr7:146102317-146102318	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs532555173	chr7:146102377-146102378	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546018958	chr7:146102386-146102387	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs802192	chr7:146102437-146102438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73164014	chr7:146102440-146102441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs77114486	chr7:146102475-146102476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567266035	chr7:146102497-146102498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114013714	chr7:146102499-146102500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188552327	chr7:146102501-146102502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543235638	chr7:146102505-146102506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555224561	chr7:146102565-146102566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538821387	chr7:146102590-146102591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558816139	chr7:146102614-146102615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77968121	chr7:146102643-146102644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538151002	chr7:146102649-146102650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554619017	chr7:146102680-146102681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574771673	chr7:146102690-146102691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540306895	chr7:146102713-146102714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576776301	chr7:146102733-146102734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545961769	chr7:146102738-146102739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553691309	chr7:146102802-146102803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192866767	chr7:146102833-146102834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184109430	chr7:146102886-146102887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544137506	chr7:146102907-146102908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572895748	chr7:146102916-146102917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368612710	chr7:146102924-146102925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562292853	chr7:146102995-146102996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529684181	chr7:146102996-146102997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546313701	chr7:146103023-146103024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565235837	chr7:146103027-146103028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374903916	chr7:146103072-146103073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188601437	chr7:146103163-146103164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569075994	chr7:146103165-146103166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537695937	chr7:146103195-146103196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs58703061	chr7:146103225-146103226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145396569	chr7:146103292-146103293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534173302	chr7:146103325-146103326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553769432	chr7:146103374-146103375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141361838	chr7:146103391-146103392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539557742	chr7:146103398-146103399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556293657	chr7:146103412-146103413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576577297	chr7:146103426-146103427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542099980	chr7:146103433-146103434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562391317	chr7:146103463-146103464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180737794	chr7:146103488-146103489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572168011	chr7:146103491-146103492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540206238	chr7:146103503-146103504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73738757	chr7:146103505-146103506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183629119	chr7:146103506-146103507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Medulloblastoma	21163964	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146089000-146109400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:146101800-146102400	Active TSS	Fetal Lung	lung
3	chr7:146102800-146103400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:146103400-146110200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:146106800-146107200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:146107000-146107200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:146109000-146109800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:146109000-146109800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:146109000-146110600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:146109200-146110600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:146109200-146112000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:146109400-146109800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:146109400-146112400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:146109400-146112600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:146109400-146112600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:146109400-146112800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:146109600-146112400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:146109800-146110000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:146110000-146111200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:146110200-146110400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:146110200-146110400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:146110400-146111800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:146110600-146111000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:146110600-146111600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:146111000-146112400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:146111200-146111400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr7:146111200-146111800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:146111400-146111600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:146111400-146111800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:146111600-146111800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:146111600-146112200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:146111600-146112400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:146111600-146112400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:146111800-146112400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:146111800-146112400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr7:146111800-146112400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:146112200-146112400	Enhancers	Brain Germinal Matrix	brain
38	chr7:146112400-146113400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr7:146113400-146113600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:146113400-146113600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:146113400-146113800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:146113400-146114000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr7:146113400-146114000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:146113800-146114200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:146114000-146115200	Enhancers	Brain Germinal Matrix	brain
46	chr7:146114400-146114600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr7:146128000-146128200	Enhancers	Fetal Brain Male	brain
48	chr7:146128400-146130200	Weak transcription	Fetal Brain Male	brain
49	chr7:146129800-146130200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr7:146129800-146130400	Enhancers	HUES64 Cell Line	embryonic stem cell

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