Variant report

Variant	esv2754449
Chromosome Location	chr2:100966963-100969067
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	chr2:100935867..100940254-chr2:100962502..100969736,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170500	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17451277	chr2:100966963-100966964	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558265530	chr2:100966985-100966986	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183878417	chr2:100967006-100967007	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569787482	chr2:100967016-100967017	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs75388159	chr2:100967035-100967036	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139035447	chr2:100967078-100967079	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561132173	chr2:100967079-100967080	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76860184	chr2:100967090-100967091	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540080661	chr2:100967119-100967120	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188205108	chr2:100967131-100967132	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117692611	chr2:100967132-100967133	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528565296	chr2:100967145-100967146	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143360186	chr2:100967181-100967182	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558191717	chr2:100967182-100967183	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs180774431	chr2:100967271-100967272	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370557030	chr2:100967272-100967273	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567600723	chr2:100967279-100967280	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs56377332	chr2:100967293-100967294	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs546782426	chr2:100967317-100967318	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112203940	chr2:100967341-100967342	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186374570	chr2:100967360-100967361	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190618916	chr2:100967365-100967366	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs558581326	chr2:100967374-100967375	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575259074	chr2:100967376-100967377	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537811823	chr2:100967389-100967390	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs181954364	chr2:100967395-100967396	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116359986	chr2:100967396-100967397	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs186989540	chr2:100967404-100967405	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73966105	chr2:100967479-100967480	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147530038	chr2:100967496-100967497	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35088367	chr2:100967511-100967512	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191479158	chr2:100967529-100967530	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113995213	chr2:100967580-100967581	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182742362	chr2:100967586-100967587	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs560989292	chr2:100967588-100967589	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368324614	chr2:100967620-100967621	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535605133	chr2:100967623-100967624	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185644505	chr2:100967628-100967629	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546843793	chr2:100967654-100967655	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189963033	chr2:100967660-100967661	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs148564906	chr2:100967684-100967685	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114778096	chr2:100967713-100967714	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141926142	chr2:100967720-100967721	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182288147	chr2:100967722-100967723	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs73966106	chr2:100967753-100967754	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554594048	chr2:100967772-100967773	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs118135596	chr2:100967782-100967783	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs150747131	chr2:100967796-100967797	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs17024034	chr2:100967807-100967808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577076280	chr2:100967824-100967825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100956800-100967200	Weak transcription	Gastric	stomach
2	chr2:100966600-100967600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:100966600-100968200	Enhancers	Ovary	ovary
4	chr2:100966800-100967000	Enhancers	Hela-S3	cervix
5	chr2:100966800-100967600	Enhancers	Esophagus	oesophagus
6	chr2:100966800-100967800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:100966800-100968600	Enhancers	Placenta	Placenta
8	chr2:100967000-100967600	Flanking Active TSS	Hela-S3	cervix
9	chr2:100967200-100967400	Enhancers	Gastric	stomach
10	chr2:100967200-100967600	Enhancers	Fetal Brain Female	brain
11	chr2:100967200-100967800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:100967400-100967600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr2:100967600-100968200	Enhancers	Hela-S3	cervix
14	chr2:100967800-100968200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:100968200-100968600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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