Variant report

Variant	nsv525951
Chromosome Location	chr2:112651316-112652892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:112652132-112652417	K562	blood:	n/a	n/a
2	BHLHE40	chr2:112652322-112652327	K562	blood:	n/a	n/a
3	UBTF	chr2:112651381-112651420	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:112640266..112649080-chr2:112649576..112660203,14	MCF-7	breast:
2	chr2:112652127..112657107-chr2:112810449..112814378,4	K562	blood:
3	chr2:112640168..112643307-chr2:112651695..112653616,3	K562	blood:
4	chr2:112650423..112652429-chr2:112810965..112814807,3	K562	blood:
5	chr2:112651539..112654934-chr2:112657187..112660968,3	K562	blood:
6	chr2:112644062..112645639-chr2:112651109..112653676,3	K562	blood:
7	chr2:112642663..112645475-chr2:112649811..112652343,2	MCF-7	breast:

No data

Variant related genes	Relation type
MERTK	TF binding region
ENSG00000236307	chromatin interactions
ENSG00000153214	chromatin interactions
ENSG00000153107	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11690295	chr2:112651316-112651317	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
2	rs185952334	chr2:112651376-112651377	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs538323700	chr2:112651385-112651386	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs4535048	chr2:112651405-112651406	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
5	rs190872868	chr2:112651487-112651488	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs531844997	chr2:112651493-112651494	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs183076592	chr2:112651565-112651566	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs539357909	chr2:112651580-112651581	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs544009762	chr2:112651581-112651582	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs553192277	chr2:112651640-112651641	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs573165287	chr2:112651673-112651674	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs541895031	chr2:112651720-112651721	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs35748735	chr2:112651730-112651731	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs59873336	chr2:112651737-112651738	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs386649199	chr2:112651747-112651748	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs149966482	chr2:112651749-112651750	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs10427390	chr2:112651789-112651790	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs188021631	chr2:112651801-112651802	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs34991978	chr2:112651813-112651814	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558496949	chr2:112651825-112651826	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs553175055	chr2:112651855-112651856	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs397868911	chr2:112651856-112651857	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs397870640	chr2:112651857-112651858	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs397782574	chr2:112651869-112651870	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs397736360	chr2:112651870-112651871	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs148676305	chr2:112651887-112651888	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs540457669	chr2:112651902-112651903	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs144397901	chr2:112651922-112651923	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs80000678	chr2:112651940-112651941	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs578249418	chr2:112652010-112652011	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs191858466	chr2:112652032-112652033	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs182886533	chr2:112652056-112652057	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs72823468	chr2:112652064-112652065	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551807526	chr2:112652092-112652093	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs187479258	chr2:112652094-112652095	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs539660399	chr2:112652095-112652096	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs147799770	chr2:112652106-112652107	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs192440314	chr2:112652152-112652153	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs71414612	chr2:112652161-112652162	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs535712040	chr2:112652215-112652216	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs373510098	chr2:112652262-112652263	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs555422734	chr2:112652288-112652289	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs575264314	chr2:112652301-112652302	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs537553031	chr2:112652354-112652355	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs557872468	chr2:112652464-112652465	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs141178845	chr2:112652475-112652476	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs540847612	chr2:112652516-112652517	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs5833421	chr2:112652572-112652573	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs79237034	chr2:112652573-112652574	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs397985471	chr2:112652586-112652587	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112642600-112654400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:112642600-112655000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:112642600-112655000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:112642600-112655000	Weak transcription	Right Atrium	heart
5	chr2:112642800-112655000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:112643000-112653600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:112645400-112653200	Weak transcription	K562	blood
8	chr2:112645800-112653600	Weak transcription	HepG2	liver
9	chr2:112646200-112655000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:112650800-112651600	Enhancers	Liver	Liver
11	chr2:112651000-112651400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:112651400-112653200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:112651600-112655000	Weak transcription	Liver	Liver

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