Variant report

Variant	nsv873166
Chromosome Location	chr1:214909095-214978078
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	chr1:214977039..214979695-chr1:214980404..214982304,3	MCF-7	breast:
2	chr1:214964650..214967515-chr1:214968725..214970577,2	MCF-7	breast:
3	chr1:214916105..214918875-chr1:214919117..214921438,3	K562	blood:
4	chr1:214916105..214918875-chr1:214919117..214921438,2	K562	blood:
5	chr1:214916105..214918875-chr1:214919117..214921438,2	K562	blood:
6	chr1:214961510..214963625-chr1:214964294..214966473,3	K562	blood:
7	chr1:214975717..214977298-chr1:215304558..215307243,2	MCF-7	breast:
8	chr1:214943810..214946500-chr1:214950609..214953532,2	K562	blood:
9	chr1:214949050..214950805-chr1:214952893..214955187,2	K562	blood:
10	chr1:214453018..214454782-chr1:214930192..214932149,2	K562	blood:
11	chr1:214964650..214967515-chr1:214968725..214970577,2	MCF-7	breast:
12	chr1:214929273..214931149-chr1:214931765..214933333,2	K562	blood:
13	chr1:214959246..214960854-chr1:214992460..214995435,2	K562	blood:
14	chr1:214916105..214918875-chr1:214919117..214921438,3	K562	blood:
15	chr1:214904477..214906839-chr1:214908051..214910386,2	K562	blood:
16	chr1:214949050..214950805-chr1:214952893..214955187,2	K562	blood:
17	chr1:214943810..214946500-chr1:214950609..214953532,2	K562	blood:
18	chr1:214929273..214931149-chr1:214931765..214933333,2	K562	blood:
19	chr1:214961510..214963625-chr1:214964294..214966473,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143499	chromatin interactions

Extended variants
information (count: 689 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:689 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6687999	chr1:214909095-214909096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs335529	chr1:214909145-214909146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs146444712	chr1:214909237-214909238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568164610	chr1:214909277-214909278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546956621	chr1:214909298-214909299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566869279	chr1:214909311-214909312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539064204	chr1:214909330-214909331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373994083	chr1:214909340-214909341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140919396	chr1:214909348-214909349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376028464	chr1:214909349-214909350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538360504	chr1:214909380-214909381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554820829	chr1:214909438-214909439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114479209	chr1:214909517-214909518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569676770	chr1:214909551-214909552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115387459	chr1:214909576-214909577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371414606	chr1:214909591-214909592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535913230	chr1:214909600-214909601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149391265	chr1:214910600-214910601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75351307	chr1:214910617-214910618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11804720	chr1:214910624-214910625	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs369086132	chr1:214910643-214910644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568576491	chr1:214910645-214910646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144797794	chr1:214910646-214910647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189703228	chr1:214910661-214910662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11809132	chr1:214910662-214910663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11805850	chr1:214910721-214910722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569482452	chr1:214910725-214910726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11805851	chr1:214910729-214910730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs139941473	chr1:214910801-214910802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143932055	chr1:214910839-214910840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577767656	chr1:214910878-214910879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554281808	chr1:214910890-214910891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574554617	chr1:214910969-214910970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371805494	chr1:214910994-214910995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147239966	chr1:214911010-214911011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6683858	chr1:214911108-214911109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1779662	chr1:214911172-214911173	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs6694811	chr1:214911173-214911174	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs58457445	chr1:214911187-214911188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371287521	chr1:214911226-214911227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557188178	chr1:214911231-214911232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116314696	chr1:214911319-214911320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55828556	chr1:214911365-214911366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113982109	chr1:214911393-214911394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373014460	chr1:214911427-214911428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542174552	chr1:214911471-214911472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558805239	chr1:214911478-214911479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543289684	chr1:214911617-214911618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181219636	chr1:214911654-214911655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527734534	chr1:214911685-214911686	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214908800-214909400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr1:214909000-214909600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr1:214910600-214911200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:214911200-214911600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:214911600-214913200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:214912400-214913400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:214912600-214913400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:214913200-214913600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:214913600-214914600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:214915800-214916600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:214916600-214918600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:214917200-214918000	Enhancers	Fetal Intestine Large	intestine
13	chr1:214917800-214918000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:214917800-214918200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:214917800-214918200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:214918000-214918400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:214918600-214918800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:214918600-214919600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:214919000-214919200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:214919600-214920600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:214920400-214921000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:214920400-214921000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:214920600-214920800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:214920600-214921000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:214921000-214921800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:214921200-214921400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:214925600-214926200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:214926400-214927200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:214926600-214927000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:214926800-214927200	Enhancers	HUVEC	blood vessel
31	chr1:214927000-214927200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:214927000-214927800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:214930400-214931000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:214940800-214941800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:214965000-214966600	Enhancers	Osteobl	bone
36	chr1:214965200-214965800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr1:214965200-214966000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:214965200-214967000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:214965200-214967400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:214965400-214965600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:214965400-214966400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:214965600-214966400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:214966000-214967000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:214966000-214967200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr1:214966400-214967200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr1:214973800-214975400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:214974200-214975200	Enhancers	NHDF-Ad	bronchial
48	chr1:214974800-214975200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:214975200-214976200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:214976400-214976600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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