Variant report

Variant	nsv1013006
Chromosome Location	chr3:21229658-21334708
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:21274699..21278536-chr3:21278960..21282448,3	K562	blood:
2	chr3:21261396..21264170-chr3:21264811..21266902,2	K562	blood:
3	chr3:20381733..20382301-chr3:21331781..21332364,2	MCF-7	breast:
4	chr3:20553254..20553852-chr3:21257816..21258713,2	MCF-7	breast:
5	chr3:21274699..21278536-chr3:21278960..21282448,3	K562	blood:
6	chr3:21207903..21212103-chr3:21235234..21238537,4	K562	blood:
7	chr3:21261396..21264170-chr3:21264811..21266902,2	K562	blood:
8	chr3:21302915..21304733-chr3:21307640..21309847,2	K562	blood:
9	chr3:21259912..21262896-chr3:21264811..21266521,2	K562	blood:
10	chr3:21302915..21304733-chr3:21307640..21309847,2	K562	blood:
11	chr3:20971297..20972149-chr3:21257804..21258756,2	MCF-7	breast:
12	chr3:21263124..21267489-chr3:21278004..21280410,3	K562	blood:
13	chr3:20553366..20553898-chr3:21257700..21258348,2	MCF-7	breast:
14	chr3:21266614..21268748-chr3:21271799..21273765,2	K562	blood:
15	chr3:21266614..21268748-chr3:21271799..21273765,2	K562	blood:
16	chr1:38156682..38159494-chr3:21306018..21307587,2	K562	blood:
17	chr3:21331844..21332737-chr5:18941538..18942038,2	MCF-7	breast:
18	chr3:21263124..21267489-chr3:21278004..21280410,3	K562	blood:
19	chr3:21274702..21276486-chr9:12852043..12854335,2	MCF-7	breast:
20	chr3:21058438..21059584-chr3:21257830..21258577,6	MCF-7	breast:
21	chr3:21259912..21262896-chr3:21264811..21266521,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116922	chromatin interactions
ENSG00000134690	chromatin interactions

Extended variants
information (count: 2003 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2003 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564541226	chr3:21230217-21230218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534773382	chr3:21230283-21230284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371525275	chr3:21230284-21230285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531971877	chr3:21230390-21230391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547491547	chr3:21230391-21230392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190593569	chr3:21230452-21230453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529782074	chr3:21230461-21230462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548842097	chr3:21230469-21230470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112899034	chr3:21230506-21230507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540714651	chr3:21230519-21230520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13061894	chr3:21230524-21230525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs150450050	chr3:21230565-21230566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570844484	chr3:21230601-21230602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534678646	chr3:21230602-21230603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566042703	chr3:21230609-21230610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553308463	chr3:21230614-21230615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568493562	chr3:21230621-21230622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535543362	chr3:21230622-21230623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183192601	chr3:21230639-21230640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575784580	chr3:21230676-21230677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9849575	chr3:21230689-21230690	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558537405	chr3:21230691-21230692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536013316	chr3:21230698-21230699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149215188	chr3:21230712-21230713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540705783	chr3:21230713-21230714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187524088	chr3:21230715-21230716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529799555	chr3:21230737-21230738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541901311	chr3:21230772-21230773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563884303	chr3:21230807-21230808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531095408	chr3:21230862-21230863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143397116	chr3:21230885-21230886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571083438	chr3:21230895-21230896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192381075	chr3:21230944-21230945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9832395	chr3:21230950-21230951	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568437433	chr3:21230951-21230952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535555292	chr3:21230971-21230972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530712761	chr3:21230975-21230976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142372647	chr3:21231026-21231027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113624625	chr3:21231033-21231034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536874742	chr3:21231034-21231035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199594393	chr3:21231037-21231038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558702331	chr3:21231060-21231061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187499421	chr3:21231061-21231062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541316593	chr3:21231062-21231063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550881002	chr3:21231078-21231079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552698686	chr3:21231094-21231095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574446893	chr3:21231097-21231098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192768130	chr3:21231099-21231100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184677063	chr3:21231129-21231130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9816499	chr3:21231140-21231141	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
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
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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21230200-21230600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:21230200-21231400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr3:21230400-21230600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:21230600-21235000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:21235000-21235200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:21235200-21235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:21235800-21236000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:21244600-21245400	ZNF genes & repeats	Right Atrium	heart
9	chr3:21244800-21245400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:21245000-21245400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:21245000-21245400	ZNF genes & repeats	Aorta	Aorta
12	chr3:21245400-21246600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:21246600-21247000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:21250600-21251400	Enhancers	Brain Germinal Matrix	brain
15	chr3:21250600-21252600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:21250600-21252600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:21250800-21251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:21251000-21251400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr3:21251000-21252000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:21251000-21252400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:21251200-21252200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:21251200-21252600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:21251800-21252200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr3:21252000-21252600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:21252000-21253200	Active TSS	NHDF-Ad	bronchial
26	chr3:21252200-21252400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:21252200-21252800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:21252400-21252800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:21252400-21252800	Active TSS	Right Atrium	heart
30	chr3:21263200-21264600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:21263600-21264400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:21264000-21265000	Enhancers	Aorta	Aorta
33	chr3:21264600-21265200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:21264600-21266000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr3:21265000-21265200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
36	chr3:21265200-21265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:21265200-21266000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr3:21265200-21266400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:21265200-21266600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr3:21265400-21265600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
41	chr3:21265400-21266200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:21265400-21266600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr3:21265600-21266000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:21265600-21266400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:21266400-21266800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:21266800-21267000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr3:21267000-21274600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:21267600-21267800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:21267600-21268000	ZNF genes & repeats	Pancreas	Pancrea
50	chr3:21267800-21268000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links