Variant report

Variant	nsv829620
Chromosome Location	chr2:112825846-112832456
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:112826096..112827842-chr2:112829800..112832394,2	MCF-7	breast:
2	chr2:112818714..112821811-chr2:112824906..112828402,3	MCF-7	breast:
3	chr2:112831943..112834066-chr2:112841080..112842997,2	MCF-7	breast:
4	chr2:112812427..112814661-chr2:112831760..112834339,2	MCF-7	breast:
5	chr2:112819134..112821985-chr2:112825483..112827864,2	K562	blood:
6	chr2:112832080..112834081-chr2:112845453..112847033,2	MCF-7	breast:
7	chr2:112826096..112827842-chr2:112829800..112832394,2	MCF-7	breast:
8	chr2:112812072..112814358-chr2:112828058..112829562,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153214	chromatin interactions

Extended variants
information (count: 258 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192384940	chr2:112825854-112825855	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs59232962	chr2:112825866-112825867	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs551335043	chr2:112825904-112825905	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs36110288	chr2:112825959-112825960	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs561751065	chr2:112825974-112825975	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571412812	chr2:112825986-112825987	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs4848984	chr2:112826078-112826079	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs547695426	chr2:112826086-112826087	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs567541564	chr2:112826109-112826110	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs184884153	chr2:112826123-112826124	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs549747615	chr2:112826142-112826143	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs569812876	chr2:112826149-112826150	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs547708371	chr2:112826155-112826156	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558919393	chr2:112826168-112826169	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs572577404	chr2:112826197-112826198	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534877149	chr2:112826205-112826206	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs554858449	chr2:112826238-112826239	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs189642861	chr2:112826240-112826241	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs564228540	chr2:112826241-112826242	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs563340282	chr2:112826252-112826253	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs151106300	chr2:112826255-112826256	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs546265119	chr2:112826276-112826277	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs533236134	chr2:112826312-112826313	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs564961699	chr2:112826322-112826323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs527505326	chr2:112826387-112826388	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs547583385	chr2:112826427-112826428	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561166889	chr2:112826443-112826444	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530010665	chr2:112826474-112826475	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59679251	chr2:112826475-112826476	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs180793111	chr2:112826491-112826492	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113256724	chr2:112826492-112826493	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58552130	chr2:112826498-112826499	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs565603521	chr2:112826529-112826530	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535229190	chr2:112826540-112826541	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368920639	chr2:112826597-112826598	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142174649	chr2:112826601-112826602	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566109105	chr2:112826625-112826626	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574841801	chr2:112826629-112826630	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372089353	chr2:112826632-112826633	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113967017	chr2:112826720-112826721	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556972544	chr2:112826739-112826740	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577148648	chr2:112826742-112826743	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545853504	chr2:112826754-112826755	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375378076	chr2:112826759-112826760	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184623985	chr2:112826777-112826778	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573207013	chr2:112826798-112826799	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541272070	chr2:112826812-112826813	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561051614	chr2:112826823-112826824	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34491333	chr2:112826834-112826835	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189444957	chr2:112826894-112826895	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112814200-112827000	Weak transcription	Psoas Muscle	Psoas
2	chr2:112814200-112835400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:112814200-112849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:112814200-112859800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:112814400-112831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:112814600-112829400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:112814800-112826800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:112814800-112832200	Weak transcription	A549	lung
9	chr2:112814800-112842000	Weak transcription	Fetal Heart	heart
10	chr2:112815200-112833200	Weak transcription	Hela-S3	cervix
11	chr2:112816000-112833800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:112816400-112827200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr2:112816400-112829600	Strong transcription	Placenta	Placenta
14	chr2:112816600-112834200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:112816600-112866200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:112816800-112871400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr2:112817000-112827000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:112817000-112827400	Strong transcription	Fetal Stomach	stomach
19	chr2:112817000-112830200	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:112817400-112827800	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr2:112817400-112835400	Weak transcription	Esophagus	oesophagus
22	chr2:112817400-112835400	Weak transcription	Right Ventricle	heart
23	chr2:112818200-112829800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:112818400-112827200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:112818600-112827400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr2:112818600-112827600	Strong transcription	Liver	Liver
27	chr2:112818600-112829600	Strong transcription	Primary B cells from cord blood	blood
28	chr2:112818600-112833800	Strong transcription	Primary T cells from cord blood	blood
29	chr2:112818600-112836600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr2:112818800-112834000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:112819000-112827600	Strong transcription	Fetal Thymus	thymus
32	chr2:112819200-112826000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:112819200-112838200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:112819400-112827800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:112819600-112836400	Strong transcription	Fetal Intestine Large	intestine
36	chr2:112819800-112826800	Weak transcription	Fetal Kidney	kidney
37	chr2:112819800-112828400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr2:112820400-112826800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:112820400-112831000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:112820400-112847000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:112821200-112831200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:112821400-112826800	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:112821400-112828200	Strong transcription	HepG2	liver
44	chr2:112821400-112835400	Weak transcription	Gastric	stomach
45	chr2:112821400-112835400	Weak transcription	Ovary	ovary
46	chr2:112821400-112835400	Weak transcription	Spleen	Spleen
47	chr2:112821400-112849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:112821600-112841600	Weak transcription	Brain Anterior Caudate	brain
49	chr2:112822000-112826800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:112822200-112826200	Strong transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links