Variant report

Variant	esv3499191
Chromosome Location	chr3:120161046-120165383
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	chr3:120158128..120161743-chr3:120167809..120171161,5	MCF-7	breast:
3	chr3:120137478..120138354-chr3:120161073..120162380,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163430	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186617244	chr3:120161102-120161103	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558882900	chr3:120161144-120161145	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200983879	chr3:120161238-120161239	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77081121	chr3:120161242-120161243	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs397737791	chr3:120161245-120161246	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575564206	chr3:120161254-120161255	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs76099674	chr3:120161312-120161313	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370306732	chr3:120161364-120161365	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556558657	chr3:120161367-120161368	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138454534	chr3:120161397-120161398	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs143922062	chr3:120161467-120161468	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553071422	chr3:120161479-120161480	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191071356	chr3:120161579-120161580	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12491022	chr3:120161590-120161591	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545215659	chr3:120161616-120161617	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564914764	chr3:120161617-120161618	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs207463663	chr3:120161621-120161622	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373116079	chr3:120161635-120161636	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559003300	chr3:120161674-120161675	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577807826	chr3:120161729-120161730	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs530842689	chr3:120161737-120161738	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs143268236	chr3:120161764-120161765	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561271220	chr3:120161767-120161768	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371159865	chr3:120161796-120161797	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1259330	chr3:120161829-120161830	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567003017	chr3:120161875-120161876	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183693125	chr3:120161880-120161881	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141412000	chr3:120161935-120161936	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541555416	chr3:120161951-120161952	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78679754	chr3:120161952-120161953	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186581847	chr3:120161959-120161960	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200174345	chr3:120161961-120161962	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538150182	chr3:120162000-120162001	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554799498	chr3:120162003-120162004	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75339997	chr3:120162014-120162015	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536290106	chr3:120162051-120162052	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552671753	chr3:120162054-120162055	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192483080	chr3:120162118-120162119	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544743724	chr3:120162161-120162162	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558810079	chr3:120162175-120162176	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575463726	chr3:120162212-120162213	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs374053313	chr3:120162273-120162274	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs200915604	chr3:120162286-120162287	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs150598987	chr3:120162302-120162303	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs183369405	chr3:120162347-120162348	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs139962551	chr3:120162348-120162349	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs141823067	chr3:120162381-120162382	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs146248712	chr3:120162389-120162390	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs532656765	chr3:120162399-120162400	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186909067	chr3:120162414-120162415	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	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:256 , 50 per page) page: 1 2 3 4 5 6

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	chr3:120149000-120161200	Genic enhancers	NHDF-Ad	bronchial
9	chr3:120151800-120166200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:120152600-120161400	Genic enhancers	Fetal Muscle Leg	muscle
11	chr3:120152600-120162200	Genic enhancers	Fetal Stomach	stomach
12	chr3:120153000-120167600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:120154000-120161200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr3:120155200-120163400	Genic enhancers	NHLF	lung
15	chr3:120155400-120161400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:120155400-120162800	Enhancers	Right Atrium	heart
17	chr3:120155800-120168400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:120156200-120166200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:120156600-120161200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:120156600-120161400	Genic enhancers	Fetal Lung	lung
21	chr3:120156600-120168800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:120156800-120165200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:120156800-120166000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:120157000-120161600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:120158000-120161200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:120158000-120166200	Weak transcription	Fetal Brain Female	brain
27	chr3:120158000-120167600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:120158200-120167400	Weak transcription	Brain Germinal Matrix	brain
29	chr3:120158400-120165600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:120158600-120161200	Genic enhancers	NH-A	brain
31	chr3:120158600-120161400	Enhancers	Rectal Smooth Muscle	rectum
32	chr3:120158600-120161400	Genic enhancers	Osteobl	bone
33	chr3:120158800-120161400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
34	chr3:120158800-120163000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:120158800-120165200	Weak transcription	Lung	lung
36	chr3:120158800-120166000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr3:120158800-120167400	Weak transcription	A549	lung
38	chr3:120159000-120161200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:120159400-120161200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:120159400-120162000	Weak transcription	Aorta	Aorta
41	chr3:120159600-120163200	Strong transcription	HSMM	muscle
42	chr3:120159600-120165200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:120159600-120165800	Weak transcription	Spleen	Spleen
44	chr3:120159800-120161200	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr3:120159800-120162000	Weak transcription	Fetal Intestine Small	intestine
46	chr3:120159800-120164600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:120159800-120165000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:120160000-120161400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr3:120160000-120162000	Enhancers	Left Ventricle	heart
50	chr3:120160000-120164600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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