Variant report

Variant	esv3394363
Chromosome Location	chr3:98590662-98593860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98586570..98588737-chr3:98593085..98595243,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551829605	chr3:98590663-98590664	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112733341	chr3:98590665-98590666	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575115642	chr3:98590673-98590674	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368416067	chr3:98590690-98590691	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544222247	chr3:98590695-98590696	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139572415	chr3:98590753-98590754	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377192059	chr3:98590757-98590758	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374973203	chr3:98590767-98590768	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2439220	chr3:98590775-98590776	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs200818795	chr3:98590779-98590780	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543351361	chr3:98590784-98590785	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149985538	chr3:98590913-98590914	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537819091	chr3:98590920-98590921	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2919232	chr3:98590922-98590923	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551892784	chr3:98590955-98590956	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145215849	chr3:98590995-98590996	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187212607	chr3:98591033-98591034	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149137010	chr3:98591063-98591064	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529859679	chr3:98591065-98591066	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78896635	chr3:98591132-98591133	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13085453	chr3:98591218-98591219	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566321467	chr3:98591225-98591226	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538479738	chr3:98591227-98591228	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184569276	chr3:98591236-98591237	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568905405	chr3:98591237-98591238	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547275995	chr3:98591243-98591244	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537558980	chr3:98591245-98591246	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188281151	chr3:98591246-98591247	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192225202	chr3:98591253-98591254	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13069495	chr3:98591263-98591264	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574351560	chr3:98591265-98591266	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13065037	chr3:98591340-98591341	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13065176	chr3:98591364-98591365	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185060837	chr3:98591382-98591383	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368279337	chr3:98591454-98591455	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189520956	chr3:98591504-98591505	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142234160	chr3:98591509-98591510	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181111040	chr3:98591570-98591571	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113611988	chr3:98591615-98591616	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141347611	chr3:98591627-98591628	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7630797	chr3:98591733-98591734	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7630800	chr3:98591737-98591738	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs528592022	chr3:98591788-98591789	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116389909	chr3:98591802-98591803	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546474281	chr3:98591852-98591853	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566457655	chr3:98591860-98591861	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146977020	chr3:98591906-98591907	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77419978	chr3:98591958-98591959	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184626692	chr3:98592042-98592043	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537897156	chr3:98592116-98592117	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98536200-98594200	Weak transcription	HepG2	liver
2	chr3:98537000-98592800	Weak transcription	K562	blood
3	chr3:98567600-98601000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr3:98575400-98603800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:98575800-98593200	Weak transcription	HUVEC	blood vessel
6	chr3:98575800-98603200	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:98575800-98603800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:98576000-98598600	Weak transcription	Fetal Kidney	kidney
9	chr3:98577200-98598800	Weak transcription	Left Ventricle	heart
10	chr3:98578000-98601000	Weak transcription	Lung	lung
11	chr3:98583400-98611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:98583800-98590800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:98584400-98591000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:98584400-98591000	Weak transcription	Dnd41	blood
15	chr3:98584400-98593400	Weak transcription	Fetal Heart	heart
16	chr3:98584400-98607200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:98584600-98604200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:98586200-98591400	Strong transcription	NH-A	brain
19	chr3:98586200-98594000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:98586200-98595800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:98586400-98594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:98586600-98591200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:98586600-98594200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:98586600-98598600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:98587200-98596200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:98587200-98604600	Weak transcription	Ovary	ovary
27	chr3:98587400-98591000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:98587400-98594200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr3:98587400-98595600	Strong transcription	NHEK	skin
30	chr3:98587800-98601800	Strong transcription	HSMM	muscle
31	chr3:98588200-98591000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:98588800-98590800	Weak transcription	Liver	Liver
33	chr3:98588800-98592400	ZNF genes & repeats	A549	lung
34	chr3:98589000-98592800	Strong transcription	Osteobl	bone
35	chr3:98589000-98594200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:98589000-98598600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:98589200-98591200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:98589200-98602200	Weak transcription	NHLF	lung
39	chr3:98589400-98590800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:98589400-98598800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr3:98589400-98609200	Weak transcription	Fetal Intestine Large	intestine
42	chr3:98589600-98591200	Strong transcription	Fetal Lung	lung
43	chr3:98589600-98597000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:98589600-98599800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:98589800-98591000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:98589800-98593200	Strong transcription	HMEC	breast
47	chr3:98589800-98604000	Weak transcription	Fetal Stomach	stomach
48	chr3:98590000-98591400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr3:98590000-98592200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:98590000-98609600	Weak transcription	Brain Anterior Caudate	brain

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