Variant report

Variant	esv3395466
Chromosome Location	chr1:246986829-246991227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246986424..246989892-chr1:246990442..246996940,6	K562	blood:

Variant related genes	Relation type
ENSG00000223519	chromatin interactions
ENSG00000252011	chromatin interactions

Extended variants
information (count: 238 )
Associated
traits (count: 81 )

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	rs191681639	chr1:246986840-246986841	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs116520468	chr1:246986900-246986901	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs35900059	chr1:246986929-246986930	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371608007	chr1:246986982-246986983	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374946342	chr1:246986987-246986988	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374517670	chr1:246986989-246986990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368743967	chr1:246986993-246986994	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372042882	chr1:246986998-246986999	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs569777862	chr1:246987002-246987003	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs112851414	chr1:246987003-246987004	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs527376902	chr1:246987010-246987011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375357629	chr1:246987031-246987032	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112057383	chr1:246987032-246987033	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182685644	chr1:246987071-246987072	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549866969	chr1:246987090-246987091	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs12037769	chr1:246987195-246987196	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs28626244	chr1:246987220-246987221	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs56403835	chr1:246987237-246987238	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs536842140	chr1:246987466-246987467	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs532691935	chr1:246987482-246987483	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs186631034	chr1:246987523-246987524	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs143161630	chr1:246987526-246987527	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs538006603	chr1:246987540-246987541	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs148250150	chr1:246987562-246987563	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs192513311	chr1:246987580-246987581	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs115408088	chr1:246987591-246987592	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs142789463	chr1:246987628-246987629	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577142017	chr1:246987639-246987640	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs567163374	chr1:246987683-246987684	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs113411499	chr1:246987711-246987712	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs534530402	chr1:246987726-246987727	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs556456793	chr1:246987805-246987806	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs147495680	chr1:246987810-246987811	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs138647341	chr1:246987813-246987814	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs386641776	chr1:246987814-246987815	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs61853982	chr1:246987815-246987816	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs61853983	chr1:246987816-246987817	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs372277490	chr1:246987817-246987818	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs61853984	chr1:246987818-246987819	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs61853985	chr1:246987819-246987820	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs61853986	chr1:246987820-246987821	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs146891063	chr1:246987821-246987822	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542091178	chr1:246987835-246987836	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs561910658	chr1:246987842-246987843	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs572078613	chr1:246987888-246987889	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs185600872	chr1:246987894-246987895	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555411186	chr1:246987905-246987906	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs372385352	chr1:246987959-246987960	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs558656497	chr1:246987998-246987999	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs563944270	chr1:246988007-246988008	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246981400-246989000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:246986000-246987800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:246986400-246992200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:246987800-246988600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:246988800-246989200	ZNF genes & repeats	Fetal Kidney	kidney
6	chr1:246989000-246989400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:246989200-247011200	Weak transcription	Fetal Kidney	kidney
8	chr1:246990000-246991200	Enhancers	HepG2	liver
9	chr1:246990600-246990800	Enhancers	Hela-S3	cervix
10	chr1:246990800-246991200	Flanking Active TSS	Hela-S3	cervix
11	chr1:246990800-246991200	Enhancers	NHEK	skin

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