Variant report

Variant	esv3399806
Chromosome Location	chr3:75826318-75826880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9828295	chr3:75826339-75826340	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112100333	chr3:75826341-75826342	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368989695	chr3:75826343-75826344	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566471970	chr3:75826354-75826355	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11709762	chr3:75826357-75826358	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113672857	chr3:75826360-75826361	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80157135	chr3:75826366-75826367	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9809127	chr3:75826382-75826383	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71101854	chr3:75826384-75826385	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113190975	chr3:75826386-75826387	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554897279	chr3:75826404-75826405	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11713283	chr3:75826406-75826407	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201664692	chr3:75826408-75826409	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143210893	chr3:75826409-75826410	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62269664	chr3:75826417-75826418	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374054258	chr3:75826419-75826420	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199594111	chr3:75826420-75826421	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367934385	chr3:75826421-75826422	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142485798	chr3:75826455-75826456	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11713305	chr3:75826456-75826457	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372134211	chr3:75826468-75826469	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11705777	chr3:75826472-75826473	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117754743	chr3:75826474-75826475	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370443334	chr3:75826487-75826488	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182102651	chr3:75826489-75826490	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143934712	chr3:75826490-75826491	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113931089	chr3:75826508-75826509	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114763682	chr3:75826515-75826516	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11713334	chr3:75826516-75826517	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11713336	chr3:75826545-75826546	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11710640	chr3:75826551-75826552	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562031348	chr3:75826562-75826563	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529324639	chr3:75826563-75826564	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28429231	chr3:75826574-75826575	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6764237	chr3:75826580-75826581	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201552796	chr3:75826589-75826590	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550777208	chr3:75826604-75826605	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563047918	chr3:75826618-75826619	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111702765	chr3:75826624-75826625	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62269665	chr3:75826656-75826657	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112706911	chr3:75826667-75826668	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142339697	chr3:75826672-75826673	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188138728	chr3:75826673-75826674	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150673321	chr3:75826674-75826675	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566333618	chr3:75826691-75826692	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533807574	chr3:75826761-75826762	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192880435	chr3:75826762-75826763	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566906683	chr3:75826772-75826773	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112135326	chr3:75826773-75826774	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62269666	chr3:75826777-75826778	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75796800-75832800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:75805400-75830000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:75818400-75833800	Weak transcription	Right Ventricle	heart
4	chr3:75818800-75828000	Weak transcription	Brain Anterior Caudate	brain
5	chr3:75820000-75833800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:75820400-75831600	Weak transcription	HSMMtube	muscle
7	chr3:75821600-75826600	Weak transcription	Left Ventricle	heart
8	chr3:75821600-75827200	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:75821600-75831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:75821800-75826400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:75821800-75833600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:75822000-75826400	Weak transcription	Pancreas	Pancrea
13	chr3:75822000-75827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:75822000-75827000	Weak transcription	Spleen	Spleen
15	chr3:75822000-75827200	Weak transcription	Gastric	stomach
16	chr3:75822000-75828200	Weak transcription	Aorta	Aorta
17	chr3:75822000-75828400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:75822000-75833600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:75822200-75831600	Weak transcription	NHLF	lung
20	chr3:75822400-75827600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:75824000-75830600	ZNF genes & repeats	Liver	Liver
22	chr3:75824200-75831600	Weak transcription	Osteobl	bone
23	chr3:75824400-75831600	Weak transcription	Colonic Mucosa	Colon
24	chr3:75824400-75833600	Weak transcription	NHDF-Ad	bronchial
25	chr3:75825000-75826600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:75825000-75827600	Weak transcription	Fetal Stomach	stomach
27	chr3:75825000-75831600	Weak transcription	Fetal Heart	heart
28	chr3:75825200-75828000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:75825200-75829600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:75825400-75830800	Strong transcription	Ovary	ovary
31	chr3:75825600-75827200	Weak transcription	A549	lung
32	chr3:75825600-75827400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
33	chr3:75825600-75828600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:75825600-75832400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr3:75825600-75832400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr3:75825800-75826400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:75825800-75826400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr3:75825800-75826400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
39	chr3:75825800-75826600	ZNF genes & repeats	Brain Hippocampus Middle	brain
40	chr3:75825800-75826600	ZNF genes & repeats	Fetal Brain Male	brain
41	chr3:75825800-75826800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr3:75825800-75826800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
43	chr3:75825800-75826800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
44	chr3:75825800-75826800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
45	chr3:75825800-75826800	ZNF genes & repeats	NHEK	skin
46	chr3:75825800-75827000	ZNF genes & repeats	HSMM	muscle
47	chr3:75825800-75827200	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr3:75825800-75827800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:75825800-75827800	ZNF genes & repeats	Brain Substantia Nigra	brain
50	chr3:75825800-75827800	ZNF genes & repeats	Fetal Kidney	kidney

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