Variant report

Variant	nsv874840
Chromosome Location	chr2:111605245-111695479
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:111618005..111620750-chr2:111621836..111623864,4	MCF-7	breast:
2	chr2:111630021..111632661-chr2:111644852..111646520,2	K562	blood:
3	chr2:111645690..111647920-chr2:111650857..111653776,2	MCF-7	breast:
4	chr2:111623532..111625117-chr2:111626164..111628405,2	K562	blood:
5	chr2:111630021..111632661-chr2:111644852..111646520,2	K562	blood:
6	chr2:111613927..111616498-chr2:111625288..111627633,2	K562	blood:
7	chr2:111652533..111654321-chr2:111657541..111660386,2	K562	blood:
8	chr2:111626175..111629011-chr2:111629051..111632531,5	K562	blood:
9	chr2:111645690..111647920-chr2:111650857..111653776,2	MCF-7	breast:
10	chr2:111659330..111661560-chr2:111667127..111669037,2	K562	blood:
11	chr2:111604170..111606952-chr2:111619066..111621745,2	MCF-7	breast:
12	chr2:111613927..111616498-chr2:111625288..111627633,2	K562	blood:
13	chr2:111626175..111629011-chr2:111629051..111632341,3	K562	blood:
14	chr2:111618005..111620750-chr2:111621836..111623864,4	MCF-7	breast:
15	chr2:111650917..111653257-chr2:111655210..111658130,2	K562	blood:
16	chr2:111603779..111605764-chr2:111610713..111613145,2	K562	blood:
17	chr2:111652533..111654321-chr2:111657541..111660386,2	K562	blood:
18	chr19:36066525..36067230-chr2:111654141..111654641,2	MCF-7	breast:
19	chr2:111614729..111616277-chr2:111621749..111623783,2	MCF-7	breast:
20	chr2:111595145..111597268-chr2:111609719..111611330,2	K562	blood:
21	chr2:111589730..111592608-chr2:111607480..111611247,3	MCF-7	breast:
22	chr2:111601975..111604042-chr2:111606034..111607594,2	MCF-7	breast:
23	chr2:111626175..111629011-chr2:111629051..111632531,5	K562	blood:
24	chr2:111614729..111616277-chr2:111621749..111623783,2	MCF-7	breast:
25	chr2:111603779..111605764-chr2:111610713..111613145,2	K562	blood:
26	chr2:111611685..111612458-chr2:111874292..111875234,3	MCF-7	breast:
27	chr2:111604170..111606952-chr2:111619066..111621745,2	MCF-7	breast:
28	chr2:111659330..111661560-chr2:111667127..111669037,2	K562	blood:
29	chr2:111626175..111629011-chr2:111629051..111632341,3	K562	blood:
30	chr2:111606890..111608485-chr2:111612122..111613694,2	K562	blood:
31	chr2:111606890..111608485-chr2:111612122..111613694,2	K562	blood:
32	chr2:111650917..111653257-chr2:111655210..111658130,2	K562	blood:
33	chr2:111623256..111625222-chr2:111876740..111879332,2	MCF-7	breast:
34	chr2:111623532..111625117-chr2:111626164..111628405,2	K562	blood:
35	chr2:111569200..111569886-chr2:111611955..111612624,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153094	chromatin interactions

Extended variants
information (count: 3297 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3297 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs755578	chr2:111605245-111605246	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533268987	chr2:111605259-111605260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71431126	chr2:111605293-111605294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553812766	chr2:111605330-111605331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560464092	chr2:111605332-111605333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181962498	chr2:111605336-111605337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187293543	chr2:111605352-111605353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548885948	chr2:111605387-111605388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563023093	chr2:111605437-111605438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539402874	chr2:111605438-111605439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531676040	chr2:111605471-111605472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371798056	chr2:111605559-111605560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34599373	chr2:111605631-111605632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191709049	chr2:111605657-111605658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571501420	chr2:111605668-111605669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139290445	chr2:111605683-111605684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547724146	chr2:111605893-111605894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567603024	chr2:111605902-111605903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78365764	chr2:111605907-111605908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556451368	chr2:111605987-111605988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183676065	chr2:111605991-111605992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74942877	chr2:111605996-111605997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537497929	chr2:111606038-111606039	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557831697	chr2:111606254-111606255	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs577753063	chr2:111606281-111606282	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs368504771	chr2:111606295-111606296	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs188148721	chr2:111606351-111606352	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs573956394	chr2:111606374-111606375	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs542821851	chr2:111606445-111606446	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs562500752	chr2:111606508-111606509	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs12997497	chr2:111606511-111606512	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs190152914	chr2:111606517-111606518	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs557446759	chr2:111606540-111606541	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs9917154	chr2:111606591-111606592	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150013309	chr2:111606597-111606598	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs13017495	chr2:111606600-111606601	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540353178	chr2:111606601-111606602	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs13397960	chr2:111606603-111606604	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538581415	chr2:111606626-111606627	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs576784826	chr2:111606663-111606664	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs75513551	chr2:111606698-111606699	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs539213032	chr2:111606760-111606761	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs557604850	chr2:111606772-111606773	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs577794087	chr2:111606784-111606785	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs533794500	chr2:111606811-111606812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545522777	chr2:111606835-111606836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114101331	chr2:111606884-111606885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569284843	chr2:111606988-111606989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371391695	chr2:111607018-111607019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569999506	chr2:111607027-111607028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD

Chromatin state (count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111596400-111611600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:111596800-111609600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:111597000-111611400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:111599000-111606800	Enhancers	Fetal Thymus	thymus
5	chr2:111600800-111607600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:111601400-111611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:111601600-111609200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:111601800-111606000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:111601800-111609400	Weak transcription	Spleen	Spleen
10	chr2:111601800-111611600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:111603200-111605800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:111603200-111607000	Enhancers	Primary T cells from cord blood	blood
13	chr2:111603400-111606200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:111603400-111606400	Enhancers	Fetal Brain Male	brain
15	chr2:111603400-111606600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr2:111603400-111606800	Enhancers	Dnd41	blood
17	chr2:111603600-111606800	Enhancers	Thymus	Thymus
18	chr2:111603800-111605600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:111603800-111605800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:111603800-111606000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:111603800-111606200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:111604000-111605400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:111604000-111605400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:111604000-111605800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:111604000-111606400	Enhancers	GM12878-XiMat	blood
26	chr2:111604000-111611600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:111604200-111605600	Enhancers	Primary B cells from peripheral blood	blood
28	chr2:111604600-111606600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:111604600-111609800	Weak transcription	Primary B cells from cord blood	blood
30	chr2:111604800-111606000	Enhancers	Fetal Brain Female	brain
31	chr2:111604800-111615800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:111605000-111605600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr2:111605000-111606000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr2:111605000-111606200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:111605000-111606200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:111605000-111606400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:111605000-111609000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:111605000-111609400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:111605000-111611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:111605400-111606200	Enhancers	Brain Germinal Matrix	brain
41	chr2:111605400-111609000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:111605400-111609400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:111605600-111608400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:111605600-111608800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:111605600-111610200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:111605800-111608600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:111605800-111609000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:111605800-111609200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:111606000-111606200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:111606000-111606200	Enhancers	Fetal Muscle Trunk	muscle

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