Variant report

Variant	esv3518631
Chromosome Location	chr3:98868311-98921967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:98898412..98900467-chr3:98901353..98902956,2	MCF-7	breast:
2	chr3:98833031..98833794-chr3:98891585..98892473,5	MCF-7	breast:
3	chr3:98898412..98900467-chr3:98901353..98902956,2	MCF-7	breast:
4	chr3:98742090..98742958-chr3:98891307..98892432,5	MCF-7	breast:
5	chr3:98742225..98743062-chr3:98891577..98892142,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST3GAL6-6	chr3:98899387-98899480	NONHSAT090838
2	lnc-ST3GAL6-6	chr3:98896222-98896357	NONHSAT090838
3	lnc-ST3GAL6-6	chr3:98904502-98904611	NONHSAT090838

No data

Extended variants
information (count: 1846 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1846 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368689570	chr3:98868339-98868340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561334733	chr3:98868361-98868362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138374479	chr3:98868384-98868385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72934730	chr3:98868432-98868433	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4550851	chr3:98868488-98868489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546930364	chr3:98868502-98868503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375604912	chr3:98868597-98868598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578194873	chr3:98868635-98868636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545730010	chr3:98868636-98868637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532483189	chr3:98868642-98868643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142789881	chr3:98868647-98868648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187569566	chr3:98868672-98868673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140531914	chr3:98868689-98868690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs704593	chr3:98868711-98868712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554265837	chr3:98868735-98868736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192564002	chr3:98868739-98868740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533563140	chr3:98868774-98868775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1965510	chr3:98868777-98868778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186911490	chr3:98868795-98868796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572676675	chr3:98868809-98868810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545714128	chr3:98868865-98868866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559280287	chr3:98868874-98868875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542701875	chr3:98868918-98868919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573262429	chr3:98868933-98868934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146059985	chr3:98868935-98868936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561294822	chr3:98868953-98868954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9827416	chr3:98868965-98868966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561374718	chr3:98868991-98868992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549835598	chr3:98868994-98868995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72934731	chr3:98869055-98869056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs72934733	chr3:98869120-98869121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138672013	chr3:98869165-98869166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9879703	chr3:98869169-98869170	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543191609	chr3:98869170-98869171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552459165	chr3:98869177-98869178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149313888	chr3:98869245-98869246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144550675	chr3:98869304-98869305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547942482	chr3:98869317-98869318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148448383	chr3:98869319-98869320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78245045	chr3:98869339-98869340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201714987	chr3:98869360-98869361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547155879	chr3:98869402-98869403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570464352	chr3:98869426-98869427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539031076	chr3:98869463-98869464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192169467	chr3:98869486-98869487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73147934	chr3:98869508-98869509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566702154	chr3:98869511-98869512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116696229	chr3:98869513-98869514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555246871	chr3:98869525-98869526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574910910	chr3:98869532-98869533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98865000-98868400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:98865000-98876800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:98867600-98875400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:98868400-98869200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:98875400-98875600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:98875600-98877000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:98875600-98877600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:98876800-98879200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:98877000-98879000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:98877200-98878600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:98877600-98878200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:98877800-98878400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:98878000-98878200	ZNF genes & repeats	Aorta	Aorta
14	chr3:98878200-98893600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:98878400-98882200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:98879200-98879400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:98879200-98899200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:98879400-98891600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:98882200-98882400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:98885400-98886400	Enhancers	NHDF-Ad	bronchial
21	chr3:98885600-98886000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:98885600-98886400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:98886400-98891400	Weak transcription	NHDF-Ad	bronchial
24	chr3:98891400-98892000	Enhancers	Fetal Thymus	thymus
25	chr3:98891400-98892000	Enhancers	NHDF-Ad	bronchial
26	chr3:98891600-98891800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:98891600-98892000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:98891600-98892000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:98891600-98892000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:98891600-98892000	Enhancers	HSMM	muscle
31	chr3:98891800-98892000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:98891800-98892000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:98891800-98892400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr3:98892400-98895200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:98894200-98894600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:98894200-98894600	Enhancers	HUVEC	blood vessel
37	chr3:98895200-98895400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:98895200-98895600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:98899200-98899600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:98899200-98899600	Enhancers	NHEK	skin
41	chr3:98899200-98900200	Enhancers	HMEC	breast
42	chr3:98901800-98912400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:98904600-98906000	Weak transcription	Aorta	Aorta
44	chr3:98906000-98906200	ZNF genes & repeats	Aorta	Aorta
45	chr3:98910000-98910200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:98910000-98910200	Enhancers	HSMMtube	muscle
47	chr3:98910000-98910800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr3:98911000-98911400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:98915200-98918000	Active TSS	Fetal Thymus	thymus
50	chr3:98918000-98918400	Enhancers	Fetal Thymus	thymus

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