Variant report

Variant	esv3408053
Chromosome Location	chr3:67442744-67443342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79165607	chr3:67442746-67442747	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528177514	chr3:67442762-67442763	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190647744	chr3:67442776-67442777	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571260259	chr3:67442783-67442784	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34179592	chr3:67442803-67442804	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114156126	chr3:67442805-67442806	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567879778	chr3:67442810-67442811	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11922584	chr3:67442818-67442819	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553515297	chr3:67442820-67442821	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573296581	chr3:67442843-67442844	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536744140	chr3:67442853-67442854	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115611434	chr3:67442889-67442890	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182947808	chr3:67442891-67442892	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541374947	chr3:67442910-67442911	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188601913	chr3:67442920-67442921	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17046410	chr3:67442939-67442940	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs17046411	chr3:67442955-67442956	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542494682	chr3:67442986-67442987	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192337968	chr3:67443041-67443042	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570444522	chr3:67443050-67443051	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368634761	chr3:67443054-67443055	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528220887	chr3:67443059-67443060	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112280411	chr3:67443075-67443076	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139195797	chr3:67443080-67443081	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530485809	chr3:67443100-67443101	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143202161	chr3:67443159-67443160	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78126470	chr3:67443186-67443187	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369993090	chr3:67443187-67443188	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546924754	chr3:67443197-67443198	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74950667	chr3:67443241-67443242	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528045600	chr3:67443246-67443247	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112271847	chr3:67443247-67443248	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187441188	chr3:67443255-67443256	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78797575	chr3:67443256-67443257	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77044311	chr3:67443257-67443258	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575255824	chr3:67443263-67443264	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537879033	chr3:67443264-67443265	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554529635	chr3:67443272-67443273	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs66471755	chr3:67443291-67443292	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs66698903	chr3:67443298-67443299	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559287246	chr3:67443304-67443305	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112434214	chr3:67443330-67443331	ZNF genes & repeats Weak transcription 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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67412400-67453000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:67414400-67470800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:67420200-67449600	Weak transcription	HSMM	muscle
4	chr3:67420200-67452000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:67420200-67479400	Weak transcription	Esophagus	oesophagus
6	chr3:67424600-67457000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:67424600-67466000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:67424600-67471000	Weak transcription	Colonic Mucosa	Colon
9	chr3:67425000-67465200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:67425000-67474200	Weak transcription	Gastric	stomach
11	chr3:67425600-67443200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:67425800-67456000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:67427000-67462800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:67427400-67450000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:67429200-67449800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:67431600-67449600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:67431600-67451000	Weak transcription	Pancreas	Pancrea
18	chr3:67431600-67469400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:67433400-67449600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:67433600-67449600	Weak transcription	A549	lung
21	chr3:67433600-67465800	Weak transcription	NHLF	lung
22	chr3:67435000-67466000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:67435200-67449600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:67435400-67452600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:67435400-67452800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:67435400-67462800	Weak transcription	HSMMtube	muscle
27	chr3:67435400-67467200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:67435600-67449800	Weak transcription	Osteobl	bone
29	chr3:67435600-67450800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:67435600-67463200	Weak transcription	Fetal Lung	lung
31	chr3:67435600-67509800	Weak transcription	Ovary	ovary
32	chr3:67435600-67534200	Weak transcription	Aorta	Aorta
33	chr3:67435800-67462800	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:67436000-67462800	Weak transcription	Right Ventricle	heart
35	chr3:67436200-67455400	Weak transcription	Left Ventricle	heart
36	chr3:67437400-67443200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr3:67437400-67462200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:67438400-67449800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:67440000-67443400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr3:67440000-67470600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr3:67440400-67443400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:67440600-67454800	Weak transcription	Fetal Kidney	kidney
43	chr3:67440800-67457400	Weak transcription	HepG2	liver
44	chr3:67441000-67449600	Weak transcription	GM12878-XiMat	blood
45	chr3:67441200-67471600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:67441400-67443200	Strong transcription	Primary T cells from cord blood	blood
47	chr3:67441400-67443400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr3:67441600-67442800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:67441600-67443400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr3:67441800-67442800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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