Variant report

Variant	esv2763323
Chromosome Location	chr3:164189618-164243301
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:164212016..164212593-chr6:120624651..120625343,2	MCF-7	breast:
2	chr3:164097711..164098324-chr3:164241488..164242482,3	MCF-7	breast:
3	chr3:164241644..164242499-chr3:164352238..164353178,5	MCF-7	breast:
4	chr3:164241669..164242499-chr3:164352238..164352926,2	MCF-7	breast:
5	chr3:164190398..164192515-chr3:164196627..164199488,2	K562	blood:
6	chr3:164097709..164098424-chr3:164241494..164242452,3	MCF-7	breast:
7	chr3:164097711..164098324-chr3:164241488..164242187,2	MCF-7	breast:
8	chr3:164190398..164192515-chr3:164196627..164199488,2	K562	blood:
9	chr19:15442848..15443641-chr3:164192625..164193437,2	Hela-S3	cervix:
10	chr3:164240704..164243300-chr3:164249655..164252008,2	MCF-7	breast:
11	chr3:164241773..164244042-chr3:164244735..164247521,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141867	chromatin interactions

Extended variants
information (count: 924 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:924 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370381600	chr3:164189638-164189639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76291030	chr3:164189639-164189640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540375288	chr3:164189644-164189645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560196083	chr3:164189689-164189690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529152245	chr3:164189722-164189723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548311240	chr3:164189792-164189793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568492990	chr3:164189802-164189803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545350090	chr3:164189803-164189804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9290233	chr3:164189816-164189817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551133931	chr3:164189818-164189819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73877057	chr3:164189828-164189829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540050623	chr3:164189886-164189887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551673603	chr3:164189889-164189890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567077423	chr3:164189896-164189897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs452224	chr3:164189897-164189898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555770200	chr3:164189900-164189901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574936202	chr3:164189903-164189904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34342088	chr3:164189921-164189922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs367230	chr3:164189936-164189937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577277226	chr3:164189941-164189942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540069381	chr3:164190140-164190141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144111051	chr3:164190160-164190161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs419649	chr3:164190174-164190175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542940366	chr3:164190197-164190198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562760614	chr3:164190240-164190241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530932244	chr3:164190241-164190242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550955960	chr3:164190246-164190247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535193941	chr3:164190253-164190254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57551216	chr3:164190267-164190268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148511939	chr3:164190315-164190316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533437559	chr3:164190339-164190340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs401402	chr3:164190351-164190352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375869772	chr3:164190360-164190361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs378206	chr3:164190470-164190471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35361368	chr3:164190515-164190516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397762593	chr3:164190525-164190526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549699411	chr3:164190558-164190559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540990178	chr3:164190559-164190560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558090400	chr3:164190560-164190561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569159480	chr3:164190588-164190589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73159336	chr3:164190640-164190641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533331290	chr3:164190648-164190649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187561752	chr3:164190649-164190650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532585367	chr3:164190672-164190673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13081042	chr3:164190708-164190709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs192974539	chr3:164190748-164190749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553569931	chr3:164190788-164190789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573819292	chr3:164190906-164190907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77878676	chr3:164191018-164191019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537702524	chr3:164191034-164191035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164185000-164193800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:164193800-164195200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:164194000-164195400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:164195000-164195200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:164195200-164196200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:164195200-164202200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:164195400-164197600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:164196200-164196400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:164197000-164198000	Enhancers	Liver	Liver
10	chr3:164197600-164198400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:164198600-164199200	Enhancers	Colon Smooth Muscle	Colon
12	chr3:164201400-164202200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:164202200-164203000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:164203000-164203400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:164203200-164205000	Enhancers	Liver	Liver
16	chr3:164203400-164204400	Enhancers	Adipose Nuclei	Adipose
17	chr3:164203400-164204600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:164205000-164207000	Weak transcription	Liver	Liver
19	chr3:164207000-164207200	Enhancers	Liver	Liver
20	chr3:164215200-164216600	Enhancers	Liver	Liver
21	chr3:164216600-164216800	Flanking Active TSS	Liver	Liver
22	chr3:164216600-164217200	Enhancers	HepG2	liver
23	chr3:164216800-164217600	Enhancers	Liver	Liver
24	chr3:164225600-164226000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:164225800-164226200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:164232800-164233400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:164239800-164240200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:164240000-164240400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:164240400-164240600	Weak transcription	Liver	Liver
30	chr3:164241600-164242800	Enhancers	HepG2	liver
31	chr3:164241600-164243000	Enhancers	Liver	Liver

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