Variant report

Variant	esv3441569
Chromosome Location	chr3:98585311-98607020
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:98597641..98599720-chr3:98602345..98604464,2	K562	blood:
2	chr3:98605105..98607853-chr3:98609864..98612381,4	K562	blood:
3	chr3:98595385..98598220-chr3:98601282..98604965,3	K562	blood:
4	chr3:98586570..98588737-chr3:98593085..98595243,2	K562	blood:
5	chr3:98595385..98598220-chr3:98601282..98604965,3	K562	blood:
6	chr3:98597641..98599720-chr3:98602345..98604464,2	K562	blood:
7	chr3:98603937..98606892-chr3:98607336..98610177,2	MCF-7	breast:
8	chr3:98595066..98597311-chr3:98599043..98600864,2	K562	blood:
9	chr3:98602528..98604913-chr3:98611525..98613667,2	K562	blood:
10	chr3:98594610..98596624-chr3:98619019..98621627,2	K562	blood:
11	chr3:98601246..98603654-chr3:98609491..98611352,2	K562	blood:
12	chr3:98596084..98598965-chr3:98619062..98620700,2	MCF-7	breast:
13	chr3:98586570..98588737-chr3:98593085..98595243,2	K562	blood:
14	chr3:98605740..98609158-chr3:98613079..98614740,4	K562	blood:
15	chr3:98603129..98605269-chr3:98618566..98620834,2	MCF-7	breast:
16	chr3:98606929..98610886-chr3:98613079..98616999,4	K562	blood:
17	chr3:98595066..98597311-chr3:98599043..98600864,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239462	chromatin interactions
ENSG00000057019	chromatin interactions

Extended variants
information (count: 870 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528647177	chr3:98585328-98585329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552027713	chr3:98585333-98585334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571901879	chr3:98585339-98585340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531013952	chr3:98585349-98585350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373579334	chr3:98585366-98585367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369690802	chr3:98585397-98585398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199557251	chr3:98585420-98585421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181036822	chr3:98585428-98585429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536657267	chr3:98585450-98585451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546542804	chr3:98585456-98585457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566779736	chr3:98585462-98585463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538574251	chr3:98585490-98585491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558314184	chr3:98585491-98585492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575137297	chr3:98585512-98585513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537546296	chr3:98585526-98585527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554654638	chr3:98585560-98585561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574312539	chr3:98585561-98585562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377326641	chr3:98585606-98585607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559769969	chr3:98585640-98585641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199506818	chr3:98585642-98585643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200839879	chr3:98585647-98585648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146800101	chr3:98585666-98585667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140507003	chr3:98585694-98585695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564958390	chr3:98585742-98585743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187049531	chr3:98585755-98585756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191437603	chr3:98585785-98585786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374557978	chr3:98585788-98585789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550756630	chr3:98585822-98585823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368136093	chr3:98585832-98585833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561448707	chr3:98585839-98585840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530013995	chr3:98585849-98585850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184176822	chr3:98585933-98585934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566788264	chr3:98585958-98585959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187090793	chr3:98585994-98585995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552100341	chr3:98586017-98586018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568665385	chr3:98586064-98586065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537660506	chr3:98586080-98586081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs36160001	chr3:98586088-98586089	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574499804	chr3:98586118-98586119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113256778	chr3:98586131-98586132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553716868	chr3:98586134-98586135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576958582	chr3:98586146-98586147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545668567	chr3:98586182-98586183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34228973	chr3:98586188-98586189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565585155	chr3:98586295-98586296	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9682876	chr3:98586302-98586303	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs2454684	chr3:98586309-98586310	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs34265196	chr3:98586339-98586340	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186624079	chr3:98586352-98586353	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200679931	chr3:98586361-98586362	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98536200-98594200	Weak transcription	HepG2	liver
2	chr3:98537000-98592800	Weak transcription	K562	blood
3	chr3:98553000-98590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:98567600-98601000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:98575200-98590200	Weak transcription	HSMMtube	muscle
6	chr3:98575400-98603800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:98575800-98593200	Weak transcription	HUVEC	blood vessel
8	chr3:98575800-98603200	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:98575800-98603800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:98576000-98589800	Weak transcription	HMEC	breast
11	chr3:98576000-98590400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:98576000-98598600	Weak transcription	Fetal Kidney	kidney
13	chr3:98577200-98598800	Weak transcription	Left Ventricle	heart
14	chr3:98578000-98587400	Weak transcription	NHEK	skin
15	chr3:98578000-98588800	Weak transcription	NHLF	lung
16	chr3:98578000-98590400	Weak transcription	Adipose Nuclei	Adipose
17	chr3:98578000-98601000	Weak transcription	Lung	lung
18	chr3:98578200-98586400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:98578200-98590400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:98578400-98586200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:98578800-98589200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:98583400-98611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr3:98583800-98590800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:98584400-98585800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:98584400-98586200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:98584400-98586200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:98584400-98586200	Weak transcription	Osteobl	bone
28	chr3:98584400-98586400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:98584400-98586400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:98584400-98586400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:98584400-98587400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:98584400-98587800	Weak transcription	HSMM	muscle
33	chr3:98584400-98589000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:98584400-98589800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:98584400-98590000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:98584400-98590000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:98584400-98590200	Weak transcription	NHDF-Ad	bronchial
38	chr3:98584400-98591000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:98584400-98591000	Weak transcription	Dnd41	blood
40	chr3:98584400-98593400	Weak transcription	Fetal Heart	heart
41	chr3:98584400-98607200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr3:98584600-98586200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:98584600-98586200	Weak transcription	A549	lung
44	chr3:98584600-98586200	Weak transcription	NH-A	brain
45	chr3:98584600-98589000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:98584600-98604200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr3:98584800-98586200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:98584800-98586200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:98585400-98586400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:98585800-98586400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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