Variant report

Variant	esv1830352
Chromosome Location	chr3:19549745-19856837
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:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:19747542..19750159-chr3:19752091..19755330,3	MCF-7	breast:
2	chr3:19747542..19750159-chr3:19752091..19755330,3	MCF-7	breast:
3	chr3:19390113..19391205-chr3:19584358..19585952,11	MCF-7	breast:
4	chr3:19801295..19803442-chr3:19807030..19809544,2	K562	blood:
5	chr3:19801295..19803442-chr3:19807030..19809544,2	K562	blood:
6	chr3:19390558..19391094-chr3:19584541..19585367,2	MCF-7	breast:
7	chr3:19829915..19832031-chr3:19834488..19836078,2	K562	blood:
8	chr3:19679630..19681949-chr3:19683459..19685004,2	K562	blood:
9	chr3:19745768..19748356-chr3:19750935..19754447,3	K562	blood:
10	chr3:19106420..19107155-chr3:19584445..19585029,2	MCF-7	breast:
11	chr3:19829915..19832031-chr3:19834488..19836078,2	K562	blood:
12	chr1:62901559..62902065-chr3:19594424..19594924,2	Hela-S3	cervix:
13	chr3:19745768..19748356-chr3:19750935..19754447,3	K562	blood:
14	chr3:16317176..16319617-chr3:19576040..19578450,2	MCF-7	breast:
15	chr3:19679630..19681949-chr3:19683459..19685004,2	K562	blood:
16	chr3:19525585..19527422-chr3:19576707..19579689,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFHB-1	chr3:19717560-19717598	XLOC_003064
2	lnc-EFHB-1	chr3:19729726-19729972	XLOC_003064

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KCNH8	hsa-miR-143-3p	chr3:19576066-19576072
2	KCNH8	hsa-miR-143-3p	chr3:19576050-19576073

Variant related genes	Relation type
ENSG00000270739	chromatin interactions
ENSG00000162607	chromatin interactions
ESYT1	miRNA target sites

Extended variants
information (count: 5102 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:5102 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374999121	chr3:19549748-19549749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539739178	chr3:19549757-19549758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551337237	chr3:19549799-19549800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566539134	chr3:19549820-19549821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6781577	chr3:19549859-19549860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555340032	chr3:19549911-19549912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573826506	chr3:19549915-19549916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373031377	chr3:19549974-19549975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537938833	chr3:19550001-19550002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183131078	chr3:19550004-19550005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578089860	chr3:19550110-19550111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142011928	chr3:19550119-19550120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150270779	chr3:19550140-19550141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6797877	chr3:19550182-19550183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540258738	chr3:19550216-19550217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561650969	chr3:19550223-19550224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529012046	chr3:19550235-19550236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187860751	chr3:19550401-19550402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562704241	chr3:19550413-19550414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138979925	chr3:19550423-19550424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76156395	chr3:19550424-19550425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566478151	chr3:19550479-19550480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192552270	chr3:19550501-19550502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533817044	chr3:19550566-19550567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566685665	chr3:19550584-19550585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549001410	chr3:19550663-19550664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567289636	chr3:19550727-19550728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559774727	chr3:19550738-19550739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376264987	chr3:19550763-19550764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113721865	chr3:19550820-19550821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556335991	chr3:19550913-19550914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558375585	chr3:19550946-19550947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182102450	chr3:19550958-19550959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567440286	chr3:19550988-19550989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536098252	chr3:19551010-19551011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554383433	chr3:19551081-19551082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572809605	chr3:19551112-19551113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556617739	chr3:19551117-19551118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576618502	chr3:19551165-19551166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536248123	chr3:19551169-19551170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370085569	chr3:19551176-19551177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556332618	chr3:19551190-19551191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186878146	chr3:19551218-19551219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146353815	chr3:19551232-19551233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544302405	chr3:19551234-19551235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192849707	chr3:19551395-19551396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576037176	chr3:19551418-19551419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77539109	chr3:19551428-19551429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533045528	chr3:19551440-19551441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568543968	chr3:19551472-19551473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	22495311	CNVD

Chromatin state (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19540200-19557200	Weak transcription	Primary B cells from cord blood	blood
2	chr3:19542200-19552800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:19548600-19550800	Weak transcription	Fetal Brain Male	brain
4	chr3:19548600-19551200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr3:19549200-19555800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:19549400-19552000	Weak transcription	Brain Substantia Nigra	brain
7	chr3:19550000-19557600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:19550200-19550400	Enhancers	Brain Germinal Matrix	brain
9	chr3:19550400-19566200	Weak transcription	Brain Germinal Matrix	brain
10	chr3:19551000-19551200	Enhancers	Fetal Brain Male	brain
11	chr3:19551200-19551800	Enhancers	Primary B cells from peripheral blood	blood
12	chr3:19551600-19551800	Enhancers	Gastric	stomach
13	chr3:19551800-19559200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:19552000-19552600	Enhancers	Brain Substantia Nigra	brain
15	chr3:19552800-19564200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:19553200-19565200	Weak transcription	Pancreas	Pancrea
17	chr3:19553600-19567400	Weak transcription	Fetal Brain Female	brain
18	chr3:19554400-19555200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:19555200-19557600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:19557200-19557600	Strong transcription	Primary B cells from cord blood	blood
21	chr3:19557600-19558800	Weak transcription	Primary B cells from cord blood	blood
22	chr3:19557600-19561200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:19557600-19561200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:19558800-19559000	Enhancers	Primary B cells from cord blood	blood
25	chr3:19559000-19559400	Weak transcription	Primary B cells from cord blood	blood
26	chr3:19559200-19561200	Enhancers	Primary B cells from peripheral blood	blood
27	chr3:19559400-19561400	Enhancers	Primary B cells from cord blood	blood
28	chr3:19560400-19560800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:19560400-19560800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:19561200-19561800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:19561200-19564000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:19561200-19572600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr3:19561400-19571000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:19561400-19572800	Weak transcription	Primary B cells from cord blood	blood
35	chr3:19561800-19562800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:19562800-19563800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:19563800-19564000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:19564000-19564200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr3:19564000-19566200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:19564200-19567400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:19564200-19569200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:19566200-19566600	Enhancers	Brain Germinal Matrix	brain
43	chr3:19566200-19566800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:19566600-19577000	Weak transcription	Brain Germinal Matrix	brain
45	chr3:19566800-19567200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:19567200-19570000	Enhancers	Fetal Brain Male	brain
47	chr3:19567200-19571000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:19567400-19569000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:19567400-19569800	Enhancers	Fetal Brain Female	brain
50	chr3:19569000-19571200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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