Variant report

Variant	esv3499188
Chromosome Location	chr3:120160412-120166010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120162045..120164742-chr3:120177102..120179636,2	MCF-7	breast:
2	chr3:120137478..120138354-chr3:120161073..120162380,5	MCF-7	breast:
3	chr3:120158128..120161743-chr3:120167809..120171161,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163430	chromatin interactions

Extended variants
information (count: 213 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567788380	chr3:120160419-120160420	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs150283341	chr3:120160459-120160460	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369725571	chr3:120160462-120160463	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527427102	chr3:120160478-120160479	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147954601	chr3:120160482-120160483	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553384952	chr3:120160505-120160506	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535127844	chr3:120160520-120160521	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141128262	chr3:120160521-120160522	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370349942	chr3:120160534-120160535	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575524907	chr3:120160538-120160539	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543064554	chr3:120160542-120160543	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116127303	chr3:120160556-120160557	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573415028	chr3:120160596-120160597	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs76110106	chr3:120160691-120160692	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141788935	chr3:120160723-120160724	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368701874	chr3:120160732-120160733	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528246817	chr3:120160799-120160800	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188065552	chr3:120160817-120160818	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565228489	chr3:120160820-120160821	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200474215	chr3:120160852-120160853	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77248074	chr3:120160861-120160862	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555659706	chr3:120160899-120160900	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147082228	chr3:120160917-120160918	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567630929	chr3:120160944-120160945	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538354011	chr3:120160962-120160963	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs181303543	chr3:120160997-120160998	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75773464	chr3:120161005-120161006	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539264180	chr3:120161012-120161013	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186617244	chr3:120161102-120161103	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558882900	chr3:120161144-120161145	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200983879	chr3:120161238-120161239	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs77081121	chr3:120161242-120161243	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs397737791	chr3:120161245-120161246	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575564206	chr3:120161254-120161255	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs76099674	chr3:120161312-120161313	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370306732	chr3:120161364-120161365	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556558657	chr3:120161367-120161368	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs138454534	chr3:120161397-120161398	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs143922062	chr3:120161467-120161468	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553071422	chr3:120161479-120161480	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs191071356	chr3:120161579-120161580	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12491022	chr3:120161590-120161591	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545215659	chr3:120161616-120161617	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564914764	chr3:120161617-120161618	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs207463663	chr3:120161621-120161622	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373116079	chr3:120161635-120161636	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559003300	chr3:120161674-120161675	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577807826	chr3:120161729-120161730	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530842689	chr3:120161737-120161738	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143268236	chr3:120161764-120161765	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120137400-120162200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:120137800-120161600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:120138200-120162000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:120138200-120167800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:120138200-120169200	Weak transcription	Gastric	stomach
6	chr3:120144400-120165800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:120145800-120168800	Weak transcription	Pancreas	Pancrea
8	chr3:120148000-120161000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:120149000-120161200	Genic enhancers	NHDF-Ad	bronchial
10	chr3:120151800-120166200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:120152600-120161400	Genic enhancers	Fetal Muscle Leg	muscle
12	chr3:120152600-120162200	Genic enhancers	Fetal Stomach	stomach
13	chr3:120153000-120167600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:120153400-120160600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:120154000-120161200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr3:120155200-120163400	Genic enhancers	NHLF	lung
17	chr3:120155400-120160800	Genic enhancers	Muscle Satellite Cultured Cells	--
18	chr3:120155400-120161400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:120155400-120162800	Enhancers	Right Atrium	heart
20	chr3:120155600-120160600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:120155800-120168400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr3:120156000-120160600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:120156200-120166200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:120156400-120160800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:120156400-120160800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:120156600-120160800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:120156600-120161200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:120156600-120161400	Genic enhancers	Fetal Lung	lung
29	chr3:120156600-120168800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:120156800-120160800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:120156800-120161000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr3:120156800-120165200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:120156800-120166000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:120157000-120161000	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr3:120157000-120161600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr3:120157200-120160600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:120157200-120160600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:120157200-120160800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr3:120157400-120160800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:120158000-120160600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:120158000-120160600	Weak transcription	Stomach Mucosa	stomach
42	chr3:120158000-120161200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:120158000-120166200	Weak transcription	Fetal Brain Female	brain
44	chr3:120158000-120167600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:120158200-120160600	Genic enhancers	Adipose Nuclei	Adipose
46	chr3:120158200-120161000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr3:120158200-120167400	Weak transcription	Brain Germinal Matrix	brain
48	chr3:120158400-120160800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:120158400-120165600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:120158600-120160800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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