Variant report

Variant	esv3453738
Chromosome Location	chr1:197687700-197690857
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197688429..197690737-chr1:197693121..197696010,2	MCF-7	breast:
2	chr1:197686781..197688463-chr1:197690334..197692928,2	K562	blood:
3	chr1:197685915..197688050-chr1:197690516..197693253,2	MCF-7	breast:
4	chr1:197685201..197688463-chr1:197690125..197692928,4	K562	blood:
5	chr1:197683448..197686429-chr1:197686441..197688273,2	K562	blood:
6	chr1:197685915..197688050-chr1:197690516..197693253,2	MCF-7	breast:
7	chr1:197685201..197688463-chr1:197690125..197692928,4	K562	blood:
8	chr1:197686781..197688463-chr1:197690334..197692928,2	K562	blood:
9	chr1:197686076..197688310-chr1:197699419..197702157,2	K562	blood:
10	chr1:197690259..197692454-chr1:197742393..197744676,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213047	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 95 )

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	rs551832768	chr1:197687724-197687725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570025354	chr1:197687765-197687766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200624423	chr1:197687812-197687813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537097466	chr1:197687865-197687866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560487310	chr1:197687871-197687872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116090363	chr1:197687882-197687883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182121908	chr1:197687999-197688000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535142085	chr1:197688035-197688036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139256073	chr1:197688052-197688053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575110689	chr1:197688059-197688060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75804116	chr1:197688099-197688100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557407187	chr1:197688109-197688110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575171461	chr1:197688151-197688152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369393600	chr1:197688182-197688183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200771239	chr1:197688202-197688203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374492384	chr1:197688203-197688204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549656719	chr1:197688207-197688208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10436914	chr1:197688211-197688212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567824899	chr1:197688216-197688217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374296201	chr1:197688226-197688227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186735472	chr1:197688251-197688252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564116097	chr1:197688277-197688278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538450016	chr1:197688306-197688307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528140868	chr1:197688337-197688338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550081103	chr1:197688377-197688378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78843500	chr1:197688423-197688424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561530682	chr1:197688444-197688445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545198510	chr1:197688477-197688478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536912110	chr1:197688504-197688505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550850329	chr1:197688545-197688546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569011581	chr1:197688627-197688628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200039051	chr1:197688645-197688646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533269168	chr1:197688651-197688652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552256889	chr1:197688663-197688664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570883511	chr1:197688704-197688705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535097636	chr1:197688708-197688709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191548801	chr1:197688761-197688762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184029013	chr1:197688771-197688772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199546903	chr1:197688846-197688847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538332712	chr1:197688910-197688911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2488386	chr1:197688956-197688957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs78403046	chr1:197688976-197688977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190067447	chr1:197689036-197689037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77023975	chr1:197689041-197689042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76173208	chr1:197689128-197689129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535805234	chr1:197689181-197689182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372241422	chr1:197689187-197689188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572541510	chr1:197689189-197689190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368775922	chr1:197689218-197689219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539930883	chr1:197689246-197689247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	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
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197665800-197693600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:197687400-197687800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:197687800-197688000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:197688000-197688200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr1:197688000-197692200	Weak transcription	Fetal Intestine Small	intestine
6	chr1:197688000-197707400	Weak transcription	Left Ventricle	heart
7	chr1:197688200-197688600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:197688600-197694200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:197690000-197694200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:197690400-197692200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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