Variant report

Variant	nsv963318
Chromosome Location	chr3:52027076-52028224
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:51974624..51978885-chr3:52015984..52028227,23	K562	blood:
2	chr3:52026096..52028947-chr3:52173334..52176505,3	K562	blood:
3	chr3:52028061..52031321-chr3:52088873..52092735,5	MCF-7	breast:
4	chr3:52006271..52012102-chr3:52024917..52032079,14	MCF-7	breast:
5	chr3:51974392..51977854-chr3:52027120..52030701,3	MCF-7	breast:
6	chr3:52026823..52031380-chr3:52087204..52091486,4	K562	blood:
7	chr3:52026551..52028922-chr3:52257127..52259842,2	K562	blood:
8	chr3:52027010..52028947-chr3:52174417..52176505,2	K562	blood:
9	chr3:52005327..52011372-chr3:52027090..52031188,9	MCF-7	breast:
10	chr3:51987614..51990073-chr3:52025987..52029912,3	K562	blood:
11	chr3:51974147..51980389-chr3:52024451..52030996,12	K562	blood:
12	chr3:52025976..52031164-chr3:52185902..52190126,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACY1-1	chr3:52027640-52027851	NONHSAT089894

No data

Variant related genes	Relation type
ENSG00000114786	chromatin interactions
ENSG00000248487	chromatin interactions
ENSG00000164086	chromatin interactions
ENSG00000272762	chromatin interactions
ENSG00000114767	chromatin interactions
ENSG00000041880	chromatin interactions
ENSG00000114779	chromatin interactions
ENSG00000164087	chromatin interactions
ENSG00000180929	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192226285	chr3:52027140-52027141	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs548525817	chr3:52027150-52027151	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs568458937	chr3:52027171-52027172	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs535761850	chr3:52027175-52027176	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs557564381	chr3:52027220-52027221	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs569328579	chr3:52027227-52027228	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs323864	chr3:52027330-52027331	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371370582	chr3:52027338-52027339	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs113911569	chr3:52027350-52027351	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs573334614	chr3:52027360-52027361	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs112580596	chr3:52027406-52027407	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs574628545	chr3:52027426-52027427	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs376090662	chr3:52027438-52027439	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs540633607	chr3:52027442-52027443	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs555789648	chr3:52027466-52027467	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs143301954	chr3:52027474-52027475	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs148313316	chr3:52027481-52027482	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs141968678	chr3:52027485-52027486	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs398102510	chr3:52027489-52027490	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs573913678	chr3:52027498-52027499	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs374341343	chr3:52027568-52027569	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs184610600	chr3:52027583-52027584	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs572216708	chr3:52027589-52027590	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs139602412	chr3:52027611-52027612	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs190573261	chr3:52027618-52027619	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs527384968	chr3:52027626-52027627	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs548606670	chr3:52027693-52027694	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
28	rs567132453	chr3:52027700-52027701	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
29	rs200374033	chr3:52027714-52027715	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
30	rs200648607	chr3:52027715-52027716	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
31	rs371718266	chr3:52027720-52027721	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
32	rs374583779	chr3:52027722-52027723	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
33	rs201549429	chr3:52027723-52027724	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
34	rs371633250	chr3:52027728-52027729	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
35	rs377284869	chr3:52027729-52027730	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
36	rs369868183	chr3:52027737-52027738	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
37	rs558335551	chr3:52027755-52027756	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
38	rs1062409	chr3:52027758-52027759	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
39	rs1062408	chr3:52027760-52027761	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
40	rs567011806	chr3:52027764-52027765	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
41	rs1062406	chr3:52027770-52027771	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
42	rs11559320	chr3:52027776-52027777	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
43	rs142637200	chr3:52027796-52027797	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
44	rs141201675	chr3:52027853-52027854	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs199938668	chr3:52027858-52027859	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs567070035	chr3:52027870-52027871	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs573974394	chr3:52027875-52027876	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs545891070	chr3:52027876-52027877	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs375418619	chr3:52027880-52027881	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs71084167	chr3:52027881-52027882	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52017800-52027600	Weak transcription	Fetal Brain Male	brain
2	chr3:52017800-52028200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:52017800-52028200	Weak transcription	Aorta	Aorta
4	chr3:52017800-52028600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:52018000-52028000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:52018200-52027400	Weak transcription	Brain Substantia Nigra	brain
7	chr3:52018200-52027600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:52018400-52028400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:52018400-52028400	Weak transcription	Brain Angular Gyrus	brain
10	chr3:52021200-52028000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:52022400-52028000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:52023800-52028600	Weak transcription	Right Atrium	heart
13	chr3:52024000-52027600	Strong transcription	Fetal Stomach	stomach
14	chr3:52025400-52027400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:52025400-52027600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr3:52025400-52027800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:52025400-52028200	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:52025400-52028200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr3:52025400-52028200	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:52025400-52028400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:52025400-52028400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr3:52025400-52028400	Genic enhancers	Fetal Intestine Large	intestine
23	chr3:52025400-52028600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:52025400-52028600	Strong transcription	Rectal Smooth Muscle	rectum
25	chr3:52025600-52027600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:52025600-52027800	Strong transcription	Stomach Smooth Muscle	stomach
27	chr3:52025600-52028000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr3:52025600-52028200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:52025600-52028200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr3:52025600-52028200	Strong transcription	Lung	lung
31	chr3:52025600-52028200	Weak transcription	Stomach Mucosa	stomach
32	chr3:52025600-52028200	Genic enhancers	HepG2	liver
33	chr3:52025600-52028600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:52025600-52028600	Genic enhancers	Duodenum Mucosa	Duodenum
35	chr3:52025600-52028600	Strong transcription	Thymus	Thymus
36	chr3:52025800-52027200	Genic enhancers	A549	lung
37	chr3:52025800-52027600	Strong transcription	Spleen	Spleen
38	chr3:52025800-52028000	Strong transcription	Fetal Intestine Small	intestine
39	chr3:52025800-52028200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:52025800-52028200	Strong transcription	Right Ventricle	heart
41	chr3:52025800-52028400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr3:52025800-52029000	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr3:52025800-52029200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
44	chr3:52026000-52027200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:52026000-52027200	Strong transcription	NHDF-Ad	bronchial
46	chr3:52026000-52028200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:52026000-52028200	Strong transcription	Primary B cells from cord blood	blood
48	chr3:52026000-52028200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:52026000-52028200	Strong transcription	Left Ventricle	heart
50	chr3:52026000-52028400	Genic enhancers	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links