Variant report

Variant	esv3526368
Chromosome Location	chr3:67643545-67643893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17046684	chr3:67643561-67643562	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542911775	chr3:67643591-67643592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559435484	chr3:67643626-67643627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527675905	chr3:67643650-67643651	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114868721	chr3:67643662-67643663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562375673	chr3:67643672-67643673	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190358775	chr3:67643679-67643680	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112902933	chr3:67643691-67643692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111758393	chr3:67643696-67643697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2772462	chr3:67643709-67643710	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs111604108	chr3:67643710-67643711	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571508993	chr3:67643743-67643744	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113150640	chr3:67643761-67643762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111761824	chr3:67643778-67643779	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549646189	chr3:67643813-67643814	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17046689	chr3:67643819-67643820	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534581119	chr3:67643820-67643821	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144071691	chr3:67643850-67643851	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73836542	chr3:67643858-67643859	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115536617	chr3:67643864-67643865	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80242575	chr3:67643871-67643872	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	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
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67579400-67657600	Weak transcription	Pancreas	Pancrea
2	chr3:67598000-67644200	Weak transcription	NHLF	lung
3	chr3:67601800-67673000	Weak transcription	Fetal Heart	heart
4	chr3:67602200-67644200	Weak transcription	Gastric	stomach
5	chr3:67602200-67654800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:67602200-67655400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:67602200-67656000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:67602400-67646200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:67609400-67644000	Weak transcription	NHDF-Ad	bronchial
10	chr3:67612400-67697200	Weak transcription	Hela-S3	cervix
11	chr3:67614000-67658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:67616600-67644200	Weak transcription	HSMM	muscle
13	chr3:67618600-67655600	Weak transcription	NH-A	brain
14	chr3:67621200-67644200	Weak transcription	Esophagus	oesophagus
15	chr3:67621200-67657600	Weak transcription	Fetal Stomach	stomach
16	chr3:67621400-67650400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr3:67621800-67644000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:67621800-67658000	Weak transcription	Thymus	Thymus
19	chr3:67622000-67648800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:67622200-67657400	Weak transcription	Brain Substantia Nigra	brain
21	chr3:67622400-67647800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:67622600-67644400	Weak transcription	HMEC	breast
23	chr3:67622800-67644000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:67623400-67650000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:67624400-67643800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:67624400-67649200	Weak transcription	Fetal Intestine Large	intestine
27	chr3:67624800-67643800	Weak transcription	Dnd41	blood
28	chr3:67624800-67649200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:67624800-67651000	Weak transcription	Adipose Nuclei	Adipose
30	chr3:67624800-67658200	Weak transcription	Fetal Intestine Small	intestine
31	chr3:67627200-67655400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:67627600-67649000	Weak transcription	NHEK	skin
33	chr3:67628400-67655000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:67629200-67654800	Weak transcription	Fetal Kidney	kidney
35	chr3:67629200-67675000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:67629400-67644000	Weak transcription	Right Atrium	heart
37	chr3:67629400-67645600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:67629400-67648800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:67629400-67649200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:67629400-67649400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:67629400-67658000	Weak transcription	Right Ventricle	heart
42	chr3:67629600-67655600	Weak transcription	HUVEC	blood vessel
43	chr3:67630200-67644000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:67631400-67700200	Weak transcription	K562	blood
45	chr3:67631800-67664600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:67634200-67644000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr3:67634600-67644000	Weak transcription	Osteobl	bone
48	chr3:67634800-67649200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:67635200-67644200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:67635200-67646800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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