Variant report

Variant	nsv876606
Chromosome Location	chr3:20957851-21049235
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:26)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:20965735..20967990-chr3:20971658..20973714,2	K562	blood:
2	chr3:21034419..21036332-chr3:21040045..21042156,2	MCF-7	breast:
3	chr3:20965735..20967990-chr3:20971658..20973714,2	K562	blood:
4	chr3:20964849..20967779-chr3:20982374..20984223,2	MCF-7	breast:
5	chr3:20994011..20995971-chr3:21005027..21007976,2	K562	blood:
6	chr3:21020852..21022735-chr3:21071640..21073973,2	K562	blood:
7	chr3:20552973..20553911-chr3:20970672..20972125,8	MCF-7	breast:
8	chr3:20980465..20983126-chr3:20989723..20991835,2	K562	blood:
9	chr3:21034419..21036332-chr3:21040045..21042156,2	MCF-7	breast:
10	chr3:20982315..20984079-chr3:20994632..20996154,2	K562	blood:
11	chr3:20994011..20995971-chr3:21005027..21007976,2	K562	blood:
12	chr3:20982315..20984079-chr3:20994632..20996154,2	K562	blood:
13	chr3:20964849..20967779-chr3:20982374..20984223,2	MCF-7	breast:
14	chr3:20992240..20993903-chr3:21005773..21007953,2	K562	blood:
15	chr3:20992240..20993903-chr3:21005773..21007953,2	K562	blood:
16	chr3:20971297..20972149-chr3:21257804..21258756,2	MCF-7	breast:
17	chr3:21027317..21031156-chr3:21036432..21038394,3	K562	blood:
18	chr3:21018630..21020462-chr3:21036904..21039487,2	K562	blood:
19	chr3:20980465..20983126-chr3:20989723..20991835,2	K562	blood:
20	chr3:20746425..20748094-chr3:20975073..20978027,2	K562	blood:
21	chr20:45985741..45987613-chr3:20974886..20976689,2	MCF-7	breast:
22	chr3:21049220..21051443-chr3:21113228..21114946,2	K562	blood:
23	chr3:21018630..21020462-chr3:21036904..21039487,2	K562	blood:
24	chr3:21027317..21031156-chr3:21036432..21038394,3	K562	blood:
25	chr3:20884787..20886669-chr3:20993293..20995378,2	K562	blood:
26	chr3:20381636..20382451-chr3:20971371..20972187,4	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-9	chr3:20984797-20984912	NONHSAT088631
2	lnc-KAT2B-10	chr3:21011809-21011871	NONHSAT088634
3	lnc-KAT2B-10	chr3:21011020-21011417	NONHSAT088634
4	lnc-KAT2B-9	chr3:20995660-20995726	NONHSAT088631

No data

Extended variants
information (count: 1881 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1881 , 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	rs6776153	chr3:20957851-20957852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534910507	chr3:20957902-20957903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188535642	chr3:20957935-20957936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181380139	chr3:20957939-20957940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555105533	chr3:20957965-20957966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184441284	chr3:20958042-20958043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139575703	chr3:20958049-20958050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560012962	chr3:20958050-20958051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117472426	chr3:20958068-20958069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145205904	chr3:20958079-20958080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567952919	chr3:20958080-20958081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532093000	chr3:20958114-20958115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567270613	chr3:20958130-20958131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189245537	chr3:20958148-20958149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12638063	chr3:20958165-20958166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374131597	chr3:20958211-20958212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73041298	chr3:20958233-20958234	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533727593	chr3:20958303-20958304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555188233	chr3:20958334-20958335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549084149	chr3:20958437-20958438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573575573	chr3:20958469-20958470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371190966	chr3:20958472-20958473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576097462	chr3:20958486-20958487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544529564	chr3:20958487-20958488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556199027	chr3:20958503-20958504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114143176	chr3:20958546-20958547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544682403	chr3:20958553-20958554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74517857	chr3:20958569-20958570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572212657	chr3:20958696-20958697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76042691	chr3:20958762-20958763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142233409	chr3:20958764-20958765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150165087	chr3:20958841-20958842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572327111	chr3:20958842-20958843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145674708	chr3:20958853-20958854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562846883	chr3:20958894-20958895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532494094	chr3:20958900-20958901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372875835	chr3:20958909-20958910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79093029	chr3:20958940-20958941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182059961	chr3:20958952-20958953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187219644	chr3:20958966-20958967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548750599	chr3:20958973-20958974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567089326	chr3:20959015-20959016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540882574	chr3:20959017-20959018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77362320	chr3:20959037-20959038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537666824	chr3:20959061-20959062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191972224	chr3:20959067-20959068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577870390	chr3:20959105-20959106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs180758944	chr3:20959158-20959159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553852321	chr3:20959194-20959195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79165492	chr3:20959213-20959214	Enhancers	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20946800-20958200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:20947000-20958000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:20957800-20958800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:20957800-20958800	Weak transcription	Fetal Brain Male	brain
5	chr3:20958000-20958200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:20958200-20958800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:20958200-20959400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr3:20958400-20959400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:20958800-20959000	Enhancers	Fetal Brain Male	brain
10	chr3:20962800-20963800	Enhancers	Placenta	Placenta
11	chr3:20963800-20965600	Weak transcription	Placenta	Placenta
12	chr3:20965600-20966800	Enhancers	Placenta	Placenta
13	chr3:20965800-20967200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:20966000-20966400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:20966200-20966600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:20966200-20966600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:20966200-20967000	Enhancers	Brain Substantia Nigra	brain
18	chr3:20966200-20967200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:20966400-20967000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:20966800-20967600	Weak transcription	Placenta	Placenta
21	chr3:20967600-20968000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:20967600-20968000	Enhancers	Placenta	Placenta
23	chr3:20974200-20974400	Enhancers	Aorta	Aorta
24	chr3:20974400-20974800	Weak transcription	Aorta	Aorta
25	chr3:20974800-20975200	ZNF genes & repeats	Aorta	Aorta
26	chr3:20977200-20977600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:20999000-20999800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr3:20999000-21000000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:20999000-21000000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:20999000-21000000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:20999600-21000000	Enhancers	Fetal Lung	lung
32	chr3:20999600-21000200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:21000400-21000800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:21000800-21015600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:21003200-21003400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:21003600-21003800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:21003800-21007000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:21007400-21011000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:21010800-21011000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr3:21011000-21011400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:21011000-21013600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:21011000-21016800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:21011400-21012400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:21012400-21014000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:21013600-21014000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr3:21014000-21014800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:21014000-21016000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:21014800-21015600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:21015600-21016000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:21015600-21016400	Enhancers	K562	blood

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