Variant report

Variant	esv3435964
Chromosome Location	chr2:111574381-111578579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19754105..19754684-chr2:111575830..111576765,2	HCT-116	colon:
2	chr2:111575287..111578070-chr2:111583930..111586052,2	K562	blood:
3	chr2:111575511..111578409-chr2:111879330..111881179,2	K562	blood:
4	chr2:111578198..111580713-chr2:111588975..111590918,2	K562	blood:
5	chr2:111573421..111575587-chr2:111577412..111579449,2	K562	blood:
6	chr2:111573421..111575587-chr2:111577412..111579449,2	K562	blood:

Variant related genes	Relation type
ENSG00000153094	chromatin interactions
ENSG00000089639	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114816322	chr2:111574385-111574386	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574552427	chr2:111574468-111574469	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs11890440	chr2:111574502-111574503	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566490683	chr2:111574566-111574567	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs538610530	chr2:111574582-111574583	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs78934152	chr2:111574595-111574596	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552504185	chr2:111574602-111574603	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs79931170	chr2:111574645-111574646	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs537742783	chr2:111574698-111574699	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs554797816	chr2:111574728-111574729	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs559647234	chr2:111574752-111574753	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs528375285	chr2:111574759-111574760	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs181947833	chr2:111574776-111574777	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs112570201	chr2:111574781-111574782	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs530889316	chr2:111574799-111574800	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs113159193	chr2:111574805-111574806	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs570745353	chr2:111574810-111574811	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs533407942	chr2:111574933-111574934	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546679278	chr2:111574938-111574939	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs367658396	chr2:111575014-111575015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141861252	chr2:111575019-111575020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114556216	chr2:111575061-111575062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553236010	chr2:111575113-111575114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569503666	chr2:111575158-111575159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536734577	chr2:111575159-111575160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114739673	chr2:111575161-111575162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62162653	chr2:111575182-111575183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147080902	chr2:111575192-111575193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111918445	chr2:111575246-111575247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7592757	chr2:111575268-111575269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553812729	chr2:111575408-111575409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190632162	chr2:111575418-111575419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568517006	chr2:111575455-111575456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112797425	chr2:111575470-111575471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541748943	chr2:111575471-111575472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561528882	chr2:111575472-111575473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138486872	chr2:111575486-111575487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544373920	chr2:111575488-111575489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564556086	chr2:111575497-111575498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533273920	chr2:111575498-111575499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546936691	chr2:111575518-111575519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545741973	chr2:111575643-111575644	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs78570290	chr2:111575669-111575670	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372931395	chr2:111575672-111575673	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181454662	chr2:111575693-111575694	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs78692200	chr2:111575694-111575695	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549735160	chr2:111575703-111575704	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs569467927	chr2:111575800-111575801	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372423113	chr2:111575814-111575815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572557203	chr2:111575832-111575833	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111562000-111576400	Weak transcription	Right Atrium	heart
2	chr2:111562800-111604000	Weak transcription	Lung	lung
3	chr2:111566200-111574400	Weak transcription	Psoas Muscle	Psoas
4	chr2:111569200-111577400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:111569200-111579600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:111569400-111585000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:111569800-111580200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:111569800-111580800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:111569800-111590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:111570200-111575000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:111570200-111580600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:111570400-111575000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:111571000-111577600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:111571000-111577800	Weak transcription	Thymus	Thymus
15	chr2:111571200-111574400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:111573800-111574400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:111573800-111575000	Enhancers	Dnd41	blood
18	chr2:111574000-111574400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:111574000-111574800	Enhancers	Fetal Muscle Leg	muscle
20	chr2:111574000-111575000	Enhancers	Fetal Thymus	thymus
21	chr2:111574200-111577200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:111574400-111574600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:111574400-111574600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:111574400-111574800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr2:111574400-111574800	Bivalent Enhancer	HSMMtube	muscle
26	chr2:111574400-111575000	Enhancers	Fetal Muscle Trunk	muscle
27	chr2:111574400-111575000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr2:111574400-111575200	Enhancers	Psoas Muscle	Psoas
29	chr2:111574600-111576400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:111574600-111577000	Weak transcription	Spleen	Spleen
31	chr2:111574800-111575600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:111575000-111575800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:111575000-111576600	Weak transcription	Fetal Thymus	thymus
34	chr2:111575000-111576800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:111575000-111576800	Weak transcription	Dnd41	blood
36	chr2:111575000-111579000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:111575200-111576800	Weak transcription	Psoas Muscle	Psoas
38	chr2:111575600-111575800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr2:111576400-111577000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:111576600-111577800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:111576600-111578000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr2:111576600-111578000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr2:111576600-111579000	Enhancers	Fetal Thymus	thymus
44	chr2:111576800-111577000	Enhancers	Psoas Muscle	Psoas
45	chr2:111576800-111577200	Enhancers	Primary hematopoietic stem cells	blood
46	chr2:111576800-111577200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:111576800-111577800	Enhancers	Primary T cells from cord blood	blood
48	chr2:111576800-111577800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:111576800-111578000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr2:111576800-111578200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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