Variant report

Variant	esv2759168
Chromosome Location	chr3:110013166-110095330
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:110059725..110061588-chr3:110063064..110065714,2	K562	blood:
2	chr3:110059725..110061588-chr3:110063064..110065714,2	K562	blood:
3	chr3:110022159..110024501-chr6:145141877..145144734,2	MCF-7	breast:
4	chr3:110033087..110033610-chr3:110063315..110064271,2	K562	blood:
5	chr3:109450507..109451352-chr3:110033129..110033977,4	MCF-7	breast:
6	chr3:110064640..110067348-chr3:110084597..110086905,2	MCF-7	breast:
7	chr3:110064640..110067348-chr3:110084597..110086905,2	MCF-7	breast:
8	chr3:109250448..109251796-chr3:110033305..110033942,4	MCF-7	breast:
9	chr3:110022942..110025817-chr3:110056639..110058339,2	K562	blood:
10	chr3:110033087..110033610-chr3:110063315..110064271,2	K562	blood:
11	chr3:110022942..110025817-chr3:110056639..110058339,2	K562	blood:

No data

Extended variants
information (count: 1760 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1760 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1585520	chr3:110013195-110013196	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570833469	chr3:110013197-110013198	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537980483	chr3:110013204-110013205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs62282533	chr3:110013224-110013225	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79504081	chr3:110013245-110013246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs566681057	chr3:110013262-110013263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs145838184	chr3:110013296-110013297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs186704813	chr3:110013306-110013307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs116504477	chr3:110013321-110013322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs558444596	chr3:110013328-110013329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs537426825	chr3:110013333-110013334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs1585519	chr3:110013360-110013361	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148554664	chr3:110013372-110013373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs540601325	chr3:110013402-110013403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs192407635	chr3:110013408-110013409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs553689231	chr3:110013417-110013418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs115640458	chr3:110013462-110013463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs542961940	chr3:110013480-110013481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs185553939	chr3:110013512-110013513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs530958612	chr3:110013529-110013530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs544275266	chr3:110013575-110013576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs78308301	chr3:110013576-110013577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs74714987	chr3:110013614-110013615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs35194306	chr3:110013618-110013619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142132533	chr3:110013649-110013650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs529335066	chr3:110013650-110013651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs2614678	chr3:110013676-110013677	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs151174025	chr3:110013700-110013701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs566745286	chr3:110013718-110013719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs190430109	chr3:110013732-110013733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs549299856	chr3:110013762-110013763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs562295596	chr3:110013796-110013797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569185369	chr3:110013802-110013803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs370035438	chr3:110013806-110013807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs571177181	chr3:110013822-110013823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs370783386	chr3:110013843-110013844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs553870918	chr3:110013846-110013847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs2712990	chr3:110013852-110013853	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535608730	chr3:110013921-110013922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs542824975	chr3:110013960-110013961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556542678	chr3:110013978-110013979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112220270	chr3:110014005-110014006	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193298387	chr3:110014047-110014048	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545246180	chr3:110014066-110014067	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140274309	chr3:110014127-110014128	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533329765	chr3:110014134-110014135	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540385077	chr3:110014153-110014154	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145249257	chr3:110014165-110014166	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2399308	chr3:110014170-110014171	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs2614677	chr3:110014195-110014196	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110012800-110013200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:110013000-110015200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr3:110013200-110014000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:110014000-110014800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:110014800-110019400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:110015200-110015800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:110015200-110016000	Enhancers	HSMM	muscle
8	chr3:110015400-110016000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:110015400-110016000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:110015600-110016000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:110015600-110016000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:110015600-110016000	Enhancers	NH-A	brain
13	chr3:110015800-110016200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:110025400-110027000	Enhancers	Dnd41	blood
15	chr3:110026200-110026800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr3:110026200-110027200	Enhancers	NHDF-Ad	bronchial
17	chr3:110029000-110030000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr3:110029000-110031400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:110030000-110030400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr3:110030200-110030800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:110030200-110030800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:110030200-110031000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:110030400-110030600	Enhancers	Brain Hippocampus Middle	brain
24	chr3:110030400-110030800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr3:110030400-110030800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:110030400-110031200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:110030400-110031400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr3:110030600-110031000	Enhancers	Fetal Lung	lung
29	chr3:110030800-110033200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:110031400-110034600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr3:110031400-110034600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr3:110033000-110033200	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:110033000-110033200	Enhancers	Osteobl	bone
34	chr3:110033200-110033400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr3:110033200-110033600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr3:110033200-110033600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr3:110033200-110033600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:110033200-110033600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr3:110033200-110033600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:110033200-110033600	Enhancers	Adipose Nuclei	Adipose
41	chr3:110033200-110033600	Enhancers	Liver	Liver
42	chr3:110033200-110033600	Enhancers	Brain Anterior Caudate	brain
43	chr3:110033200-110033600	Enhancers	Brain Hippocampus Middle	brain
44	chr3:110033200-110033600	Enhancers	Stomach Mucosa	stomach
45	chr3:110033200-110033600	Flanking Active TSS	Osteobl	bone
46	chr3:110033200-110033800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:110033200-110034000	Enhancers	NHDF-Ad	bronchial
48	chr3:110033400-110033600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:110033400-110033600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr3:110033400-110033600	Enhancers	Rectal Mucosa Donor 31	rectum

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