Variant report

Variant	esv3396900
Chromosome Location	chr3:81810666-81811059
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:81717239..81719106-chr3:81808947..81811221,2	MCF-7	breast:
2	chr17:17743065..17743898-chr3:81810178..81810844,2	Hela-S3	cervix:
3	chr12:100036795..100037314-chr3:81810283..81810835,2	Hela-S3	cervix:
4	chr3:81776057..81778355-chr3:81808798..81811277,2	K562	blood:
5	chr3:81810402..81811142-chr9:139304574..139305531,2	Hela-S3	cervix:
6	chr16:14727335..14728019-chr3:81810506..81811020,2	Hela-S3	cervix:
7	chr3:81810601..81811240-chr7:140178748..140179632,2	Hela-S3	cervix:
8	chr3:81797791..81799957-chr3:81809417..81811244,2	MCF-7	breast:
9	chr16:89988947..89989485-chr3:81809961..81810805,2	Hela-S3	cervix:
10	chr3:81797341..81800582-chr3:81808703..81810715,3	K562	blood:
11	chr3:81789819..81797196-chr3:81807650..81813820,9	K562	blood:
12	chr3:81789146..81795604-chr3:81809193..81811958,7	MCF-7	breast:
13	chr12:121733110..121736069-chr3:81809721..81812341,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165689	chromatin interactions
ENSG00000110931	chromatin interactions
ENSG00000259006	chromatin interactions
ENSG00000133606	chromatin interactions
ENSG00000165688	chromatin interactions
ENSG00000114480	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368460254	chr3:81810696-81810697	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs11391701	chr3:81810702-81810703	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs55840733	chr3:81810703-81810704	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs2290081	chr3:81810725-81810726	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs551519727	chr3:81810735-81810736	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs188793749	chr3:81810747-81810748	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs78982329	chr3:81810770-81810771	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs546767632	chr3:81810771-81810772	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs533630216	chr3:81810784-81810785	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs566867997	chr3:81810795-81810796	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs535410636	chr3:81810812-81810813	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs555659787	chr3:81810829-81810830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs575495463	chr3:81810852-81810853	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs538131955	chr3:81810858-81810859	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs550428464	chr3:81810861-81810862	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs13072461	chr3:81810879-81810880	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs578109727	chr3:81810895-81810896	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs540365152	chr3:81810897-81810898	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs146362813	chr3:81810932-81810933	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs563080289	chr3:81810971-81810972	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs371322110	chr3:81810994-81810995	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs542616700	chr3:81811009-81811010	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs562786782	chr3:81811048-81811049	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81805600-81811600	Active TSS	Right Ventricle	heart
2	chr3:81806800-81811000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:81807800-81811600	Active TSS	Psoas Muscle	Psoas
4	chr3:81808000-81811400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:81808200-81811000	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr3:81808200-81811400	Active TSS	Right Atrium	heart
7	chr3:81808400-81811400	Active TSS	Left Ventricle	heart
8	chr3:81808800-81811000	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr3:81808800-81811000	Active TSS	HSMMtube	muscle
10	chr3:81808800-81811200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:81808800-81811400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:81808800-81811400	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr3:81808800-81811400	Active TSS	HSMM	muscle
14	chr3:81809000-81810800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:81809000-81811000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:81809000-81811000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:81809000-81811000	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr3:81809000-81811000	Active TSS	GM12878-XiMat	blood
19	chr3:81809000-81811000	Active TSS	NHDF-Ad	bronchial
20	chr3:81809000-81811200	Active TSS	K562	blood
21	chr3:81809000-81811200	Active TSS	NHLF	lung
22	chr3:81809000-81811800	Active TSS	Aorta	Aorta
23	chr3:81809200-81811000	Active TSS	HepG2	liver
24	chr3:81809200-81811200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr3:81809400-81811000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr3:81809400-81811200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:81809400-81811400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:81809400-81811400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:81809600-81810800	Active TSS	Placenta	Placenta
30	chr3:81809600-81811000	Active TSS	Liver	Liver
31	chr3:81809600-81811000	Active TSS	Fetal Thymus	thymus
32	chr3:81809600-81811000	Active TSS	Hela-S3	cervix
33	chr3:81809600-81811000	Active TSS	HMEC	breast
34	chr3:81809600-81811200	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr3:81809600-81811200	Active TSS	A549	lung
36	chr3:81809600-81811400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr3:81809600-81811400	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr3:81809600-81811400	Active TSS	Fetal Brain Female	brain
39	chr3:81809600-81811800	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr3:81809800-81810800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:81809800-81811000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:81809800-81811000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:81809800-81811000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr3:81809800-81811000	Active TSS	Fetal Heart	heart
45	chr3:81809800-81811000	Active TSS	Fetal Muscle Leg	muscle
46	chr3:81809800-81811000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr3:81809800-81811000	Active TSS	HUVEC	blood vessel
48	chr3:81809800-81811200	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr3:81809800-81811200	Active TSS	Brain Angular Gyrus	brain
50	chr3:81809800-81811200	Active TSS	Brain Germinal Matrix	brain

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