Variant report

Variant	nsv874841
Chromosome Location	chr2:111616304-111685789
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:111626175..111629011-chr2:111629051..111632531,5	K562	blood:
2	chr2:111626175..111629011-chr2:111629051..111632341,3	K562	blood:
3	chr2:111613927..111616498-chr2:111625288..111627633,2	K562	blood:
4	chr2:111626175..111629011-chr2:111629051..111632531,5	K562	blood:
5	chr2:111650917..111653257-chr2:111655210..111658130,2	K562	blood:
6	chr2:111630021..111632661-chr2:111644852..111646520,2	K562	blood:
7	chr2:111623256..111625222-chr2:111876740..111879332,2	MCF-7	breast:
8	chr2:111659330..111661560-chr2:111667127..111669037,2	K562	blood:
9	chr2:111652533..111654321-chr2:111657541..111660386,2	K562	blood:
10	chr2:111645690..111647920-chr2:111650857..111653776,2	MCF-7	breast:
11	chr2:111618005..111620750-chr2:111621836..111623864,4	MCF-7	breast:
12	chr19:36066525..36067230-chr2:111654141..111654641,2	MCF-7	breast:
13	chr2:111650917..111653257-chr2:111655210..111658130,2	K562	blood:
14	chr2:111652533..111654321-chr2:111657541..111660386,2	K562	blood:
15	chr2:111623532..111625117-chr2:111626164..111628405,2	K562	blood:
16	chr2:111626175..111629011-chr2:111629051..111632341,3	K562	blood:
17	chr2:111659330..111661560-chr2:111667127..111669037,2	K562	blood:
18	chr2:111618005..111620750-chr2:111621836..111623864,4	MCF-7	breast:
19	chr2:111604170..111606952-chr2:111619066..111621745,2	MCF-7	breast:
20	chr2:111623532..111625117-chr2:111626164..111628405,2	K562	blood:
21	chr2:111645690..111647920-chr2:111650857..111653776,2	MCF-7	breast:
22	chr2:111614729..111616277-chr2:111621749..111623783,2	MCF-7	breast:
23	chr2:111630021..111632661-chr2:111644852..111646520,2	K562	blood:
24	chr2:111613927..111616498-chr2:111625288..111627633,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153094	chromatin interactions

Extended variants
information (count: 2522 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2522 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1533298	chr2:111616304-111616305	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557230512	chr2:111616350-111616351	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs139420137	chr2:111616359-111616360	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs144072408	chr2:111616536-111616537	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs564588323	chr2:111616549-111616550	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533425560	chr2:111616565-111616566	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546975627	chr2:111616577-111616578	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs17041584	chr2:111616582-111616583	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs535824898	chr2:111616589-111616590	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549438735	chr2:111616600-111616601	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs58324214	chr2:111616618-111616619	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs1002015	chr2:111616619-111616620	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543163098	chr2:111616630-111616631	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538062258	chr2:111616633-111616634	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs370784230	chr2:111616646-111616647	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs140866329	chr2:111616658-111616659	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs539207824	chr2:111616683-111616684	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs1533297	chr2:111616692-111616693	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs572786220	chr2:111616703-111616704	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs573163990	chr2:111616788-111616789	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs185868803	chr2:111616814-111616815	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555722286	chr2:111616815-111616816	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149701361	chr2:111616819-111616820	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189867093	chr2:111616866-111616867	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564227228	chr2:111616909-111616910	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1002016	chr2:111616912-111616913	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs181448230	chr2:111616939-111616940	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7596265	chr2:111617015-111617016	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529290929	chr2:111617035-111617036	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550846981	chr2:111617058-111617059	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561161687	chr2:111617106-111617107	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145448402	chr2:111617136-111617137	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs952249	chr2:111617151-111617152	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs562234081	chr2:111617216-111617217	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs373628787	chr2:111617253-111617254	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs531836319	chr2:111617281-111617282	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs548677738	chr2:111617325-111617326	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs571551938	chr2:111617395-111617396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs148836987	chr2:111617419-111617420	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs565808897	chr2:111617449-111617450	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534417921	chr2:111617499-111617500	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs186289069	chr2:111617586-111617587	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs191137528	chr2:111617649-111617650	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs566535488	chr2:111617662-111617663	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs182555103	chr2:111617677-111617678	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs11894642	chr2:111617678-111617679	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs111300757	chr2:111617690-111617691	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs575614237	chr2:111617695-111617696	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs186568023	chr2:111617699-111617700	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558068203	chr2:111617744-111617745	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	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:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111608000-111618800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:111610600-111623600	Weak transcription	Spleen	Spleen
3	chr2:111610800-111616400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:111613400-111616400	Weak transcription	Primary B cells from cord blood	blood
5	chr2:111615600-111617600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:111615600-111618600	Flanking Active TSS	Dnd41	blood
7	chr2:111615800-111616400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:111615800-111616400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:111615800-111616400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:111615800-111616400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:111615800-111616600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:111615800-111616800	Active TSS	Brain Angular Gyrus	brain
13	chr2:111615800-111616800	Enhancers	Fetal Muscle Leg	muscle
14	chr2:111615800-111617000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr2:111615800-111617000	Active TSS	Brain Hippocampus Middle	brain
16	chr2:111615800-111617000	Active TSS	Brain Substantia Nigra	brain
17	chr2:111615800-111617200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr2:111615800-111617400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:111615800-111617400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:111615800-111617400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:111615800-111617400	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr2:111615800-111617400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr2:111615800-111617400	Flanking Active TSS	Fetal Thymus	thymus
24	chr2:111615800-111617600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:111615800-111617600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr2:111615800-111617600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:111615800-111617600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:111615800-111617600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:111615800-111617600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:111615800-111617800	Enhancers	Primary B cells from peripheral blood	blood
31	chr2:111616000-111616400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:111616000-111616400	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr2:111616000-111616400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr2:111616000-111616400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:111616000-111616400	Active TSS	Thymus	Thymus
36	chr2:111616000-111616600	Enhancers	GM12878-XiMat	blood
37	chr2:111616000-111616800	Active TSS	Brain Anterior Caudate	brain
38	chr2:111616000-111616800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr2:111616000-111617400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:111616000-111619000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:111616200-111616600	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr2:111616200-111616800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:111616200-111616800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:111616200-111616800	Active TSS	Duodenum Mucosa	Duodenum
45	chr2:111616200-111616800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr2:111616200-111617200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:111616200-111617200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:111616200-111617200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr2:111616200-111617400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr2:111616400-111616600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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