Variant report

Variant	nsv549165
Chromosome Location	chr1:213005012-213008227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213001095..213003639-chr1:213003692..213005660,2	K562	blood:
2	chr1:212782138..212783676-chr1:213005899..213008453,2	K562	blood:
3	chr1:213000835..213002742-chr1:213006925..213009621,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6694190	chr1:213005012-213005013	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6685864	chr1:213005038-213005039	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs534853589	chr1:213005046-213005047	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs552960204	chr1:213005061-213005062	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs137996916	chr1:213005108-213005109	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs74140511	chr1:213005132-213005133	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73075744	chr1:213005222-213005223	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs562957670	chr1:213005246-213005247	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574932208	chr1:213005271-213005272	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188492605	chr1:213005289-213005290	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs561065479	chr1:213005291-213005292	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs181730106	chr1:213005319-213005320	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs547984516	chr1:213005339-213005340	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs6696870	chr1:213005344-213005345	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs10645815	chr1:213005358-213005359	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs533670303	chr1:213005404-213005405	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs113493052	chr1:213005408-213005409	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs147682274	chr1:213005409-213005410	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs34631432	chr1:213005413-213005414	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs533594685	chr1:213005501-213005502	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112945772	chr1:213005503-213005504	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs570062038	chr1:213005517-213005518	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs6686145	chr1:213005522-213005523	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs186690296	chr1:213005533-213005534	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs573681057	chr1:213005579-213005580	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs145943650	chr1:213005582-213005583	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs375158673	chr1:213005626-213005627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553138912	chr1:213005642-213005643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571413409	chr1:213005646-213005647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111807271	chr1:213005670-213005671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34934655	chr1:213005702-213005703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143060441	chr1:213005747-213005748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368343313	chr1:213005758-213005759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371502136	chr1:213005778-213005779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574870288	chr1:213005781-213005782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542246781	chr1:213005806-213005807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554332806	chr1:213005861-213005862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572915250	chr1:213005896-213005897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541219814	chr1:213005927-213005928	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs6697507	chr1:213005941-213005942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs75787376	chr1:213005958-213005959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556257282	chr1:213006006-213006007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533614281	chr1:213006012-213006013	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs17019770	chr1:213006058-213006059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183975606	chr1:213006061-213006062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530894093	chr1:213006063-213006064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549382706	chr1:213006076-213006077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567608463	chr1:213006081-213006082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528597983	chr1:213006249-213006250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546822486	chr1:213006271-213006272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:56 , 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	chr1:213001000-213005800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:213001400-213005800	Weak transcription	A549	lung
4	chr1:213001800-213008400	Weak transcription	Stomach Mucosa	stomach
5	chr1:213002200-213006200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:213002600-213006000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:213002800-213005800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:213002800-213006000	Weak transcription	Fetal Intestine Large	intestine
9	chr1:213002800-213006000	Weak transcription	HepG2	liver
10	chr1:213002800-213006400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:213004600-213005400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:213004600-213005600	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:213004800-213005200	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:213004800-213005800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:213005000-213005200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:213005000-213005200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:213005000-213005200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:213005000-213005200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:213005000-213005200	Enhancers	Adipose Nuclei	Adipose
20	chr1:213005000-213005400	Flanking Active TSS	GM12878-XiMat	blood
21	chr1:213005000-213005400	Enhancers	K562	blood
22	chr1:213005000-213005400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr1:213005200-213005400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr1:213005200-213005400	Enhancers	Primary B cells from cord blood	blood
25	chr1:213005200-213005600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:213005400-213005600	Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr1:213005400-213005600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr1:213005400-213005600	Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:213005400-213006600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:213005400-213007800	Enhancers	GM12878-XiMat	blood
31	chr1:213005600-213006600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:213005800-213006600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr1:213005800-213007400	Enhancers	A549	lung
34	chr1:213005800-213009800	Enhancers	Fetal Intestine Small	intestine
35	chr1:213006000-213006800	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:213006000-213007000	Enhancers	HepG2	liver
37	chr1:213006000-213008200	Enhancers	Fetal Intestine Large	intestine
38	chr1:213006200-213007400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr1:213006400-213006600	Enhancers	Colonic Mucosa	Colon
40	chr1:213006400-213007800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr1:213006600-213007000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:213006600-213008000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:213006800-213007000	Enhancers	Primary B cells from peripheral blood	blood
44	chr1:213006800-213007400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr1:213006800-213007800	Weak transcription	Colonic Mucosa	Colon
46	chr1:213006800-213007800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:213007000-213007200	Flanking Active TSS	HepG2	liver
48	chr1:213007000-213007400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr1:213007200-213007400	Enhancers	HepG2	liver
50	chr1:213007400-213007600	Flanking Active TSS	HepG2	liver

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