Variant report

Variant	nsv213801
Chromosome Location	chr2:112716559-112718729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112655233..112656048-chr2:112716163..112716720,2	MCF-7	breast:
2	chr2:112708693..112711171-chr2:112713893..112716586,2	K562	blood:
3	chr2:112702753..112705481-chr2:112717991..112720713,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232277	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554560029	chr2:112716563-112716564	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1474027	chr2:112716593-112716594	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373670846	chr2:112716649-112716650	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74894521	chr2:112716680-112716681	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1122970	chr2:112716697-112716698	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs558161693	chr2:112716787-112716788	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201917969	chr2:112716872-112716873	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139922014	chr2:112716894-112716895	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72825612	chr2:112716930-112716931	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs62162471	chr2:112716994-112716995	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184463172	chr2:112717007-112717008	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546355178	chr2:112717029-112717030	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542408346	chr2:112717030-112717031	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543921814	chr2:112717033-112717034	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368358197	chr2:112717046-112717047	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58897094	chr2:112717049-112717050	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536409151	chr2:112717050-112717051	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556375232	chr2:112717057-112717058	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576430639	chr2:112717071-112717072	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539880687	chr2:112717077-112717078	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145762025	chr2:112717107-112717108	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549145636	chr2:112717119-112717120	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371021024	chr2:112717123-112717124	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558625998	chr2:112717150-112717151	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139945581	chr2:112717173-112717174	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540772311	chr2:112717211-112717212	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145364188	chr2:112717225-112717226	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574949712	chr2:112717238-112717239	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543644031	chr2:112717257-112717258	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190040428	chr2:112717291-112717292	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563520127	chr2:112717292-112717293	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564863618	chr2:112717321-112717322	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76676837	chr2:112717375-112717376	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193223036	chr2:112717395-112717396	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147676876	chr2:112717448-112717449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142332253	chr2:112717466-112717467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548406629	chr2:112717486-112717487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185579099	chr2:112717494-112717495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189306115	chr2:112717529-112717530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543913382	chr2:112717543-112717544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550664791	chr2:112717621-112717622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569856222	chr2:112717622-112717623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143628968	chr2:112717624-112717625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560868733	chr2:112717761-112717762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558842787	chr2:112717766-112717767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529670590	chr2:112717783-112717784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548376184	chr2:112717784-112717785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546616343	chr2:112717795-112717796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534578386	chr2:112717889-112717890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566757658	chr2:112717918-112717919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112689200-112734400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:112704800-112722800	Weak transcription	Right Ventricle	heart
3	chr2:112705400-112722800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:112705600-112722800	Weak transcription	Pancreas	Pancrea
5	chr2:112705600-112724600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:112705600-112730000	Weak transcription	Brain Angular Gyrus	brain
7	chr2:112705800-112722800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:112705800-112724400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:112705800-112726600	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:112705800-112741000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:112706000-112722600	Weak transcription	Lung	lung
12	chr2:112706600-112720400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:112706600-112724400	Weak transcription	Gastric	stomach
14	chr2:112706800-112725400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:112707000-112722600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:112707000-112722600	Weak transcription	Fetal Kidney	kidney
17	chr2:112707000-112724400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:112707400-112725800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:112711200-112722600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:112711800-112722400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:112711800-112722800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:112712000-112722400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:112712000-112722800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:112712400-112720800	Weak transcription	Fetal Intestine Small	intestine
25	chr2:112712800-112724400	Weak transcription	Fetal Stomach	stomach
26	chr2:112713000-112722800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:112713000-112724600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:112713200-112720200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:112713200-112722400	Weak transcription	HUVEC	blood vessel
30	chr2:112713200-112730600	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:112713200-112790600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:112714200-112717200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:112714800-112716600	Enhancers	Brain Anterior Caudate	brain
34	chr2:112714800-112717400	Enhancers	Right Atrium	heart
35	chr2:112715400-112716600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:112715400-112716600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:112715600-112717000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:112715800-112717000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:112716000-112716600	Weak transcription	Small Intestine	intestine
40	chr2:112716000-112717000	Enhancers	Brain Substantia Nigra	brain
41	chr2:112716000-112725200	Weak transcription	Ovary	ovary
42	chr2:112716200-112716600	Weak transcription	Adipose Nuclei	Adipose
43	chr2:112716200-112716600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:112716200-112716800	Enhancers	Brain Cingulate Gyrus	brain
45	chr2:112716200-112717400	Genic enhancers	HepG2	liver
46	chr2:112716200-112722400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:112716200-112724400	Weak transcription	Aorta	Aorta
48	chr2:112716400-112716800	Weak transcription	Left Ventricle	heart
49	chr2:112716400-112722600	Weak transcription	Liver	Liver
50	chr2:112716600-112716800	Enhancers	Adipose Nuclei	Adipose

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