Variant report

Variant	nsv961738
Chromosome Location	chr2:181938595-181942245
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:3)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:181934995..181937408-chr2:181939865..181942549,2	K562	blood:
2	chr2:181941490..181943748-chr2:181947073..181949611,2	K562	blood:
3	chr2:181941639..181942464-chr2:182578239..182579153,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CERKL-2	chr2:181940900-181941351	NONHSAT075858
2	lnc-CERKL-2	chr2:181939915-181940482	NONHSAT075858
3	lnc-ITGA4-2	chr2:181940223-181940255	NONHSAT075857
4	lnc-ITGA4-2	chr2:181940169-181940255	XLOC_001775
5	lnc-ITGA4-2	chr2:181940923-181941195	XLOC_001775
6	lnc-CERKL-2	chr2:181940778-181941165	XLOC_002417
7	lnc-CERKL-2	chr2:181941265-181941351	XLOC_002417
8	lnc-ITGA4-2	chr2:181940926-181941312	NONHSAT075857
9	lnc-CERKL-2	chr2:181938694-181939114	NONHSAT075858

No data

Variant related genes	Relation type
PTEN	miRNA target sites
LIMK1	miRNA target sites

Extended variants
information (count: 137 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150362390	chr2:181938605-181938606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558105387	chr2:181938647-181938648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373981169	chr2:181938678-181938679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574898908	chr2:181938720-181938721	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs543865833	chr2:181938792-181938793	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs377591687	chr2:181938826-181938827	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs561080049	chr2:181938854-181938855	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs116017913	chr2:181938894-181938895	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs190143729	chr2:181938898-181938899	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs138077253	chr2:181938914-181938915	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs532419937	chr2:181938930-181938931	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs181300473	chr2:181938940-181938941	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs116342334	chr2:181939014-181939015	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs185426559	chr2:181939019-181939020	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs530967601	chr2:181939062-181939063	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs551247745	chr2:181939075-181939076	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs1046193	chr2:181939078-181939079	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs62178784	chr2:181939125-181939126	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs188330456	chr2:181939128-181939129	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547133999	chr2:181939141-181939142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114842466	chr2:181939189-181939190	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576174346	chr2:181939217-181939218	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538902550	chr2:181939234-181939235	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558834755	chr2:181939249-181939250	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574886664	chr2:181939255-181939256	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537894840	chr2:181939293-181939294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554347226	chr2:181939333-181939334	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375509104	chr2:181939349-181939350	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574510055	chr2:181939353-181939354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544994350	chr2:181939388-181939389	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149546153	chr2:181939415-181939416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370095305	chr2:181939417-181939418	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560341710	chr2:181939420-181939421	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558564321	chr2:181939426-181939427	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557478657	chr2:181939438-181939439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572285775	chr2:181939451-181939452	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562815466	chr2:181939478-181939479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74972212	chr2:181939497-181939498	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180883320	chr2:181939501-181939502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146688750	chr2:181939519-181939520	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs5836768	chr2:181939524-181939525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529858438	chr2:181939595-181939596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543497240	chr2:181939603-181939604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369577056	chr2:181939606-181939607	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114009551	chr2:181939661-181939662	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115280745	chr2:181939671-181939672	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114758673	chr2:181939674-181939675	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558724962	chr2:181939681-181939682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78063062	chr2:181939704-181939705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112973426	chr2:181939745-181939746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181904400-181945400	Weak transcription	Left Ventricle	heart
2	chr2:181911800-181940400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:181912400-181941400	Weak transcription	Esophagus	oesophagus
4	chr2:181920800-181949800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:181922000-181942400	Weak transcription	Fetal Intestine Large	intestine
6	chr2:181926200-181939600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:181928600-181942200	Weak transcription	Dnd41	blood
8	chr2:181928600-181943000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:181929000-181940400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:181929000-181942200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:181930600-181938800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:181930800-181942200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:181932000-181940600	Weak transcription	Primary B cells from cord blood	blood
14	chr2:181932200-181942600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:181932600-181938800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:181934400-181940000	Enhancers	HUVEC	blood vessel
17	chr2:181934800-181947800	Weak transcription	Ovary	ovary
18	chr2:181935000-181948000	Weak transcription	Small Intestine	intestine
19	chr2:181935200-181938600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:181935200-181941200	Weak transcription	Fetal Stomach	stomach
21	chr2:181935400-181938800	Weak transcription	HSMM	muscle
22	chr2:181935400-181941800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:181935400-181942600	Weak transcription	A549	lung
24	chr2:181935600-181942400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:181935600-181943600	Weak transcription	Fetal Heart	heart
26	chr2:181935600-181946200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:181935800-181938800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:181936600-181939000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:181936800-181938800	Enhancers	NHLF	lung
30	chr2:181936800-181942000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:181937000-181939200	Enhancers	Osteobl	bone
32	chr2:181937000-181939400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:181937000-181939800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:181937200-181939000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:181937200-181939000	Enhancers	NHDF-Ad	bronchial
36	chr2:181937200-181939600	Enhancers	HMEC	breast
37	chr2:181937200-181939800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:181937200-181941000	Enhancers	NHEK	skin
39	chr2:181937400-181938800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:181937400-181938800	Enhancers	Fetal Brain Male	brain
41	chr2:181937400-181945600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:181937600-181941200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:181937600-181942200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:181937800-181939800	Weak transcription	Right Ventricle	heart
45	chr2:181937800-181942000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:181937800-181949600	Weak transcription	HSMMtube	muscle
47	chr2:181938200-181939200	Enhancers	NH-A	brain
48	chr2:181938200-181939600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr2:181938200-181939600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr2:181938200-181939800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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