Variant report

Variant	nsv508214
Chromosome Location	chr3:28157554-28198530
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:10)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:28196891..28198936-chr3:28200402..28202674,2	K562	blood:
2	chr13:106865241..106865855-chr3:28191390..28192230,2	HCT-116	colon:
3	chr3:28192472..28194097-chr3:28198773..28201544,2	K562	blood:
4	chr3:28159859..28162857-chr3:28168438..28170646,2	K562	blood:
5	chr3:28159859..28162857-chr3:28168438..28170646,2	K562	blood:
6	chr3:28172706..28175073-chr3:28175092..28177217,2	MCF-7	breast:
7	chr3:28169278..28172035-chr3:28217346..28218936,2	K562	blood:
8	chr3:28158824..28160885-chr3:28283075..28285636,2	MCF-7	breast:
9	chr3:28194249..28196300-chr3:28389824..28392294,2	K562	blood:
10	chr3:28172706..28175073-chr3:28175092..28177217,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AZI2-1	chr3:28180516-28180684	NONHSAT088778
2	lnc-AZI2-4	chr3:28174360-28174569	NONHSAT088777
3	lnc-AZI2-1	chr3:28182089-28182228	XLOC_003073
4	lnc-AZI2-1	chr3:28179941-28179948	XLOC_003073
5	lnc-AZI2-1	chr3:28182088-28182228	NONHSAT088778
6	lnc-AZI2-1	chr3:28180517-28180684	XLOC_003073
7	lnc-AZI2-1	chr3:28179940-28179948	NONHSAT088778

No data

Variant related genes	Relation type
ENSG00000163512	chromatin interactions
ENSG00000187118	chromatin interactions
ENSG00000206559	chromatin interactions
ADCY9	miRNA target sites
CA5B	miRNA target sites

Extended variants
information (count: 1173 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1173 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111779466	chr3:28158808-28158809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117870482	chr3:28158825-28158826	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527708773	chr3:28158845-28158846	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73059578	chr3:28158873-28158874	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527763781	chr3:28158874-28158875	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576979726	chr3:28158881-28158882	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs151087622	chr3:28158913-28158914	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs117365421	chr3:28158916-28158917	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140306848	chr3:28158957-28158958	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145323004	chr3:28158981-28158982	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570014247	chr3:28159008-28159009	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538989015	chr3:28159018-28159019	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs35939634	chr3:28159064-28159065	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558115934	chr3:28159073-28159074	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2887991	chr3:28159081-28159082	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs79035396	chr3:28159086-28159087	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554607573	chr3:28159195-28159196	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574449358	chr3:28159202-28159203	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543600029	chr3:28159204-28159205	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs193192909	chr3:28159222-28159223	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185149348	chr3:28159242-28159243	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546147330	chr3:28159302-28159303	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs188464896	chr3:28159324-28159325	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111292061	chr3:28159325-28159326	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74961134	chr3:28159332-28159333	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191708483	chr3:28159367-28159368	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563207837	chr3:28159377-28159378	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140816418	chr3:28159446-28159447	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200390388	chr3:28159462-28159463	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs967734	chr3:28159478-28159479	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150076472	chr3:28159667-28159668	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs138644385	chr3:28159679-28159680	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541720010	chr3:28159817-28159818	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560951861	chr3:28159842-28159843	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574464981	chr3:28159857-28159858	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543186230	chr3:28159914-28159915	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529997995	chr3:28159963-28159964	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111717068	chr3:28159972-28159973	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528788119	chr3:28159991-28159992	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149322622	chr3:28160012-28160013	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559647967	chr3:28160069-28160070	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571915379	chr3:28160081-28160082	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs9808915	chr3:28160082-28160083	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs541023508	chr3:28160128-28160129	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148028814	chr3:28160130-28160131	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs80151419	chr3:28160146-28160147	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371622755	chr3:28160157-28160158	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570109774	chr3:28160190-28160191	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550038104	chr3:28160207-28160208	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541112039	chr3:28160212-28160213	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28158800-28161000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:28159000-28159400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr3:28159000-28159400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr3:28159000-28159400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:28159000-28159800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:28159000-28160400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:28159000-28160800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:28159000-28161000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr3:28159000-28161200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:28159200-28160400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:28159400-28159800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:28159400-28161000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:28159400-28166000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:28159800-28160200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr3:28160000-28160400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:28160200-28160400	Enhancers	Adipose Nuclei	Adipose
17	chr3:28160200-28161000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:28161000-28162600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:28162200-28163000	Enhancers	Adipose Nuclei	Adipose
20	chr3:28162600-28162800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr3:28162600-28162800	Enhancers	Right Atrium	heart
22	chr3:28162800-28164400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:28162800-28164800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:28163000-28164200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:28165600-28167400	Enhancers	Primary B cells from peripheral blood	blood
26	chr3:28165800-28166400	Enhancers	Primary B cells from cord blood	blood
27	chr3:28166000-28166200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr3:28166000-28166400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:28166400-28167000	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr3:28166400-28167200	Enhancers	Dnd41	blood
31	chr3:28166600-28167400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr3:28167000-28167400	Enhancers	Primary B cells from cord blood	blood
33	chr3:28167400-28168400	Weak transcription	Primary B cells from cord blood	blood
34	chr3:28168600-28168800	Enhancers	Primary B cells from cord blood	blood
35	chr3:28172600-28172800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:28174400-28174800	Enhancers	HepG2	liver
37	chr3:28174800-28175800	Weak transcription	HepG2	liver
38	chr3:28175800-28177400	Enhancers	HepG2	liver
39	chr3:28176000-28176600	Enhancers	Fetal Intestine Large	intestine
40	chr3:28176200-28176600	Enhancers	Fetal Intestine Small	intestine
41	chr3:28176200-28177400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr3:28176200-28177600	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr3:28176400-28176800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
44	chr3:28176400-28177000	Enhancers	Small Intestine	intestine
45	chr3:28176600-28181200	Weak transcription	Fetal Intestine Small	intestine
46	chr3:28176800-28177000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr3:28176800-28180800	Weak transcription	Pancreas	Pancrea
48	chr3:28177000-28181200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:28177000-28182000	Weak transcription	Small Intestine	intestine
50	chr3:28177400-28179600	Weak transcription	Rectal Mucosa Donor 31	rectum

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