Variant report

Variant	esv3337639
Chromosome Location	chr3:110870795-110871172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576986774	chr3:110870798-110870799	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146582415	chr3:110870799-110870800	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376569834	chr3:110870813-110870814	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551858935	chr3:110870839-110870840	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571625269	chr3:110870899-110870900	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534201591	chr3:110870915-110870916	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554193490	chr3:110870962-110870963	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73854915	chr3:110871000-110871001	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372205305	chr3:110871010-110871011	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185422828	chr3:110871017-110871018	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576587486	chr3:110871024-110871025	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560926809	chr3:110871029-110871030	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138170077	chr3:110871031-110871032	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191363549	chr3:110871035-110871036	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571772214	chr3:110871082-110871083	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182608165	chr3:110871097-110871098	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554415734	chr3:110871116-110871117	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368731133	chr3:110871154-110871155	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110816000-110873800	Weak transcription	Left Ventricle	heart
2	chr3:110816000-110893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:110826800-110884200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:110829400-110893400	Weak transcription	HUVEC	blood vessel
5	chr3:110832200-110881800	Weak transcription	Small Intestine	intestine
6	chr3:110832200-110892400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:110832400-110911200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:110834000-110891800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:110835600-110929600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:110836200-110872800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:110838400-110880200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:110842600-110911200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:110845400-110880000	Weak transcription	Fetal Kidney	kidney
14	chr3:110847000-110873800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:110847000-110911400	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:110847200-110873800	Weak transcription	Fetal Intestine Small	intestine
17	chr3:110847200-110874000	Weak transcription	Fetal Stomach	stomach
18	chr3:110848000-110872800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:110848000-110873800	Weak transcription	Fetal Intestine Large	intestine
20	chr3:110848200-110872600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:110848200-110891800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:110848400-110879800	Weak transcription	Placenta	Placenta
23	chr3:110853000-110872800	Weak transcription	Liver	Liver
24	chr3:110853000-110880000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:110853000-110919600	Weak transcription	Fetal Brain Male	brain
26	chr3:110853200-110873000	Weak transcription	A549	lung
27	chr3:110853200-110873800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:110853200-110880200	Weak transcription	Ovary	ovary
29	chr3:110853200-110897000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr3:110853200-110911000	Weak transcription	NH-A	brain
31	chr3:110853400-110879800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:110857800-110892000	Weak transcription	Adipose Nuclei	Adipose
33	chr3:110860800-110875400	Weak transcription	Fetal Heart	heart
34	chr3:110861800-110880200	Weak transcription	HSMMtube	muscle
35	chr3:110863000-110875600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:110864200-110891800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr3:110866800-110873200	Weak transcription	Fetal Lung	lung
38	chr3:110867400-110873800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:110869000-110871800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:110869000-110872800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr3:110869200-110871200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:110869200-110875000	Strong transcription	Dnd41	blood
43	chr3:110869400-110929000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr3:110870000-110871200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr3:110870000-110871400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr3:110870000-110871800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:110870000-110871800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:110870000-110871800	Enhancers	NHDF-Ad	bronchial
49	chr3:110870000-110872000	Enhancers	Osteobl	bone
50	chr3:110870200-110870800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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