Variant report

Variant	nsv1008438
Chromosome Location	chr3:21251319-21343596
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000134690	chromatin interactions
ENSG00000116922	chromatin interactions

Extended variants
information (count: 1862 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1862 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17008237	chr3:21251319-21251320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573006438	chr3:21251325-21251326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539888175	chr3:21251333-21251334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561337469	chr3:21251345-21251346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573435349	chr3:21251362-21251363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543880278	chr3:21251366-21251367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567614123	chr3:21251387-21251388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75032257	chr3:21251465-21251466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79985589	chr3:21251466-21251467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372277770	chr3:21251479-21251480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76759686	chr3:21251548-21251549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569826381	chr3:21251556-21251557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532686645	chr3:21251575-21251576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183320559	chr3:21251631-21251632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567643936	chr3:21251634-21251635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538789403	chr3:21251639-21251640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377490520	chr3:21251662-21251663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188269741	chr3:21251695-21251696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557529198	chr3:21251742-21251743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193183571	chr3:21251745-21251746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552680535	chr3:21251788-21251789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142553663	chr3:21251808-21251809	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs541686833	chr3:21251818-21251819	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs566798022	chr3:21251819-21251820	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs375332347	chr3:21251842-21251843	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs568037144	chr3:21251882-21251883	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201335467	chr3:21251891-21251892	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185496884	chr3:21251907-21251908	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs571371705	chr3:21251913-21251914	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs146846916	chr3:21251941-21251942	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs373203836	chr3:21252049-21252050	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs556230553	chr3:21252070-21252071	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs188052953	chr3:21252097-21252098	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs6791277	chr3:21252101-21252102	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374494255	chr3:21252154-21252155	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs114275672	chr3:21252167-21252168	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs6806086	chr3:21252176-21252177	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148371873	chr3:21252195-21252196	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs13325650	chr3:21252231-21252232	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs200403036	chr3:21252269-21252270	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs1836954	chr3:21252473-21252474	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs13318739	chr3:21252536-21252537	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs150507674	chr3:21252597-21252598	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs532490901	chr3:21252598-21252599	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551585926	chr3:21252611-21252612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs572789199	chr3:21252623-21252624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs566307205	chr3:21252631-21252632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs533709619	chr3:21252635-21252636	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs555255743	chr3:21252644-21252645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs191426456	chr3:21252659-21252660	Active TSS	n/a	n/a	Overlapped CNVs	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:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21250600-21251400	Enhancers	Brain Germinal Matrix	brain
2	chr3:21250600-21252600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:21250600-21252600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:21250800-21251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:21251000-21251400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr3:21251000-21252000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:21251000-21252400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:21251200-21252200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:21251200-21252600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:21251800-21252200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr3:21252000-21252600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:21252000-21253200	Active TSS	NHDF-Ad	bronchial
13	chr3:21252200-21252400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:21252200-21252800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:21252400-21252800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:21252400-21252800	Active TSS	Right Atrium	heart
17	chr3:21263200-21264600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:21263600-21264400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:21264000-21265000	Enhancers	Aorta	Aorta
20	chr3:21264600-21265200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:21264600-21266000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr3:21265000-21265200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr3:21265200-21265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:21265200-21266000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr3:21265200-21266400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:21265200-21266600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr3:21265400-21265600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr3:21265400-21266200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr3:21265400-21266600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:21265600-21266000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:21265600-21266400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:21266400-21266800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:21266800-21267000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:21267000-21274600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:21267600-21267800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:21267600-21268000	ZNF genes & repeats	Pancreas	Pancrea
37	chr3:21267800-21268000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:21267800-21268800	Enhancers	Fetal Lung	lung
39	chr3:21268800-21271200	Weak transcription	Fetal Lung	lung
40	chr3:21271200-21271800	Enhancers	Fetal Lung	lung
41	chr3:21274600-21274800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:21276600-21277400	Enhancers	Fetal Brain Male	brain
43	chr3:21279200-21279600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr3:21296800-21297200	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr3:21297000-21298200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:21297400-21297600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:21298000-21299400	Enhancers	Brain Germinal Matrix	brain
48	chr3:21298000-21299400	Enhancers	Fetal Heart	heart
49	chr3:21298200-21298400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:21298400-21298600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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