Variant report

Variant	nsv549163
Chromosome Location	chr1:213003428-213018125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212782138..212783676-chr1:213005899..213008453,2	K562	blood:
2	chr1:213001095..213003639-chr1:213003692..213005660,2	K562	blood:
3	chr1:213001095..213003639-chr1:213003692..213005660,2	K562	blood:
4	chr1:213002092..213003822-chr1:213040039..213042148,2	K562	blood:
5	chr1:213001465..213003584-chr1:213040615..213043476,2	MCF-7	breast:
6	chr1:213000835..213002742-chr1:213006925..213009621,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	chromatin interactions

Extended variants
information (count: 238 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12038225	chr1:213003428-213003429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531574756	chr1:213003441-213003442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543736704	chr1:213003486-213003487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557596256	chr1:213003514-213003515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113916257	chr1:213003540-213003541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561990635	chr1:213003566-213003567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370601192	chr1:213003586-213003587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374295972	chr1:213003593-213003594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528878704	chr1:213003627-213003628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547092300	chr1:213003684-213003685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565723798	chr1:213003732-213003733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527722781	chr1:213003741-213003742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192120101	chr1:213003779-213003780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551495110	chr1:213003780-213003781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12136656	chr1:213003789-213003790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs538080205	chr1:213003859-213003860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185145282	chr1:213003871-213003872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12095846	chr1:213003874-213003875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs535816486	chr1:213003882-213003883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553879752	chr1:213003884-213003885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112689207	chr1:213003885-213003886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113667835	chr1:213003937-213003938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190788098	chr1:213003945-213003946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576282042	chr1:213003962-213003963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111388152	chr1:213003965-213003966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561928994	chr1:213003972-213003973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35293333	chr1:213004015-213004016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397861539	chr1:213004027-213004028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375118658	chr1:213004042-213004043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116654249	chr1:213004043-213004044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147632409	chr1:213004050-213004051	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs375848640	chr1:213004072-213004073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559076867	chr1:213004100-213004101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552759697	chr1:213004148-213004149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377682184	chr1:213004150-213004151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575523037	chr1:213004228-213004229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551168942	chr1:213004249-213004250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546137846	chr1:213004273-213004274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530952770	chr1:213004324-213004325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531758060	chr1:213004331-213004332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12406499	chr1:213004375-213004376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs143107675	chr1:213004400-213004401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11120038	chr1:213004406-213004407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs548107027	chr1:213004436-213004437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140339498	chr1:213004483-213004484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549458187	chr1:213004495-213004496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35097122	chr1:213004496-213004497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539847667	chr1:213004504-213004505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568218724	chr1:213004505-213004506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397862956	chr1:213004508-213004509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	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	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	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
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

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212999400-213009400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:212999800-213003600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:212999800-213005000	Weak transcription	Adipose Nuclei	Adipose
4	chr1:212999800-213005000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:213001000-213005800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:213001400-213004600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:213001400-213005800	Weak transcription	A549	lung
8	chr1:213001800-213008400	Weak transcription	Stomach Mucosa	stomach
9	chr1:213002200-213006200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:213002600-213006000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:213002800-213005800	Weak transcription	Fetal Intestine Small	intestine
12	chr1:213002800-213006000	Weak transcription	Fetal Intestine Large	intestine
13	chr1:213002800-213006000	Weak transcription	HepG2	liver
14	chr1:213002800-213006400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:213004600-213005000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:213004600-213005000	Enhancers	GM12878-XiMat	blood
17	chr1:213004600-213005400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:213004600-213005600	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:213004800-213005000	Enhancers	Primary B cells from cord blood	blood
20	chr1:213004800-213005200	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:213004800-213005800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:213005000-213005200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr1:213005000-213005200	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr1:213005000-213005200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:213005000-213005200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:213005000-213005200	Enhancers	Adipose Nuclei	Adipose
27	chr1:213005000-213005400	Flanking Active TSS	GM12878-XiMat	blood
28	chr1:213005000-213005400	Enhancers	K562	blood
29	chr1:213005000-213005400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr1:213005200-213005400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr1:213005200-213005400	Enhancers	Primary B cells from cord blood	blood
32	chr1:213005200-213005600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:213005400-213005600	Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr1:213005400-213005600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr1:213005400-213005600	Active TSS	Monocytes-CD14+_RO01746	blood
36	chr1:213005400-213006600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:213005400-213007800	Enhancers	GM12878-XiMat	blood
38	chr1:213005600-213006600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:213005800-213006600	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr1:213005800-213007400	Enhancers	A549	lung
41	chr1:213005800-213009800	Enhancers	Fetal Intestine Small	intestine
42	chr1:213006000-213006800	Enhancers	Duodenum Mucosa	Duodenum
43	chr1:213006000-213007000	Enhancers	HepG2	liver
44	chr1:213006000-213008200	Enhancers	Fetal Intestine Large	intestine
45	chr1:213006200-213007400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr1:213006400-213006600	Enhancers	Colonic Mucosa	Colon
47	chr1:213006400-213007800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr1:213006600-213007000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:213006600-213008000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:213006800-213007000	Enhancers	Primary B cells from peripheral blood	blood

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