Variant report

Variant	esv1802500
Chromosome Location	chr1:226985006-226987232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226985091..226988081-chr1:226993842..226996201,2	K562	blood:
2	chr1:226978580..226982685-chr1:226985277..226987970,3	K562	blood:
3	chr1:226975622..226977240-chr1:226985661..226987921,2	K562	blood:
4	chr1:226984451..226988514-chr1:226988953..226993290,5	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561197124	chr1:226985061-226985062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530000402	chr1:226985084-226985085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531524126	chr1:226985141-226985142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72756508	chr1:226985192-226985193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189960340	chr1:226985208-226985209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532235993	chr1:226985219-226985220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138413694	chr1:226985227-226985228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565783169	chr1:226985233-226985234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182644185	chr1:226985239-226985240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549325025	chr1:226985292-226985293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186579957	chr1:226985309-226985310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538182346	chr1:226985319-226985320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550135873	chr1:226985327-226985328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55840254	chr1:226985372-226985373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112088813	chr1:226985376-226985377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112246456	chr1:226985383-226985384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191466213	chr1:226985385-226985386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61835657	chr1:226985387-226985388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553804498	chr1:226985398-226985399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572218147	chr1:226985410-226985411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55963387	chr1:226985415-226985416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565757905	chr1:226985430-226985431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs55697005	chr1:226985461-226985462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76055845	chr1:226985488-226985489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76554491	chr1:226985516-226985517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536413148	chr1:226985551-226985552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75513405	chr1:226985552-226985553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554489978	chr1:226985576-226985577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369125196	chr1:226985587-226985588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112534402	chr1:226985663-226985664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111680411	chr1:226985741-226985742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12725108	chr1:226985794-226985795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111926725	chr1:226985819-226985820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12752899	chr1:226985833-226985834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113491429	chr1:226985858-226985859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12752917	chr1:226985861-226985862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564870978	chr1:226985896-226985897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12748763	chr1:226985897-226985898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111231258	chr1:226985932-226985933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576434971	chr1:226985957-226985958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113360569	chr1:226985958-226985959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112242675	chr1:226985969-226985970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112575669	chr1:226985972-226985973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112872549	chr1:226986007-226986008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113963992	chr1:226986008-226986009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541034987	chr1:226986031-226986032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111802492	chr1:226986046-226986047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113953112	chr1:226986047-226986048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543762926	chr1:226986050-226986051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200710121	chr1:226986060-226986061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226966600-226986400	Weak transcription	Right Atrium	heart
2	chr1:226971600-226986800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226976400-226986400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:226976600-226986400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:226977000-226986800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:226982400-226986800	Weak transcription	HUVEC	blood vessel
7	chr1:226983600-226988600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:226984400-226986400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:226984400-226986400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr1:226984400-226986400	Enhancers	GM12878-XiMat	blood
11	chr1:226984400-226986800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:226984400-226989200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:226984600-226985400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:226984600-226986200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:226984800-226986200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:226984800-226986200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:226984800-226986600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:226984800-226987600	Enhancers	K562	blood
19	chr1:226985000-226985200	Enhancers	Thymus	Thymus
20	chr1:226985000-226986400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr1:226985000-226988200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr1:226985000-226988800	Enhancers	Fetal Thymus	thymus
23	chr1:226985000-226990000	Enhancers	Primary T cells from cord blood	blood
24	chr1:226985200-226985400	Enhancers	Spleen	Spleen
25	chr1:226985200-226985600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:226985200-226986000	Weak transcription	Thymus	Thymus
27	chr1:226985200-226986200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:226985200-226986800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr1:226985400-226986400	Weak transcription	Spleen	Spleen
30	chr1:226985400-226987200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:226985600-226986000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:226986000-226986800	Enhancers	Fetal Intestine Small	intestine
33	chr1:226986000-226986800	Enhancers	Dnd41	blood
34	chr1:226986000-226987200	Enhancers	Fetal Intestine Large	intestine
35	chr1:226986000-226987800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:226986000-226988600	Enhancers	Thymus	Thymus
37	chr1:226986200-226986400	Enhancers	Primary hematopoietic stem cells	blood
38	chr1:226986200-226986400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:226986200-226987200	Enhancers	Primary B cells from cord blood	blood
40	chr1:226986200-226987200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr1:226986200-226987200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr1:226986200-226987400	Enhancers	Primary B cells from peripheral blood	blood
43	chr1:226986200-226987400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr1:226986200-226987400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:226986200-226987400	Enhancers	Duodenum Mucosa	Duodenum
46	chr1:226986200-226987800	Enhancers	Fetal Muscle Leg	muscle
47	chr1:226986400-226986600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr1:226986400-226986600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:226986400-226986600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr1:226986400-226986600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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