Variant report

Variant	esv3445191
Chromosome Location	chr3:119697110-119709166
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	chr3:119707707..119709811-chr3:119807417..119810335,2	MCF-7	breast:

Extended variants
information (count: 512 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532039668	chr3:119697113-119697114	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552043771	chr3:119697146-119697147	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376005989	chr3:119697148-119697149	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562802500	chr3:119697152-119697153	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72969131	chr3:119697153-119697154	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548891710	chr3:119697250-119697251	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567134406	chr3:119697262-119697263	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73854755	chr3:119697272-119697273	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114938595	chr3:119697303-119697304	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193163307	chr3:119697353-119697354	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184981214	chr3:119697356-119697357	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558773396	chr3:119697388-119697389	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115657715	chr3:119697474-119697475	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190815864	chr3:119697499-119697500	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375903645	chr3:119697529-119697530	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192450203	chr3:119697549-119697550	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77994055	chr3:119697555-119697556	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540254216	chr3:119697585-119697586	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78639749	chr3:119697586-119697587	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370994866	chr3:119697622-119697623	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545938728	chr3:119697633-119697634	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562919371	chr3:119697654-119697655	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531966097	chr3:119697672-119697673	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543601305	chr3:119697680-119697681	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542122515	chr3:119697697-119697698	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375107546	chr3:119697749-119697750	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562424121	chr3:119697751-119697752	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529610599	chr3:119697752-119697753	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183737617	chr3:119697757-119697758	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188055356	chr3:119697780-119697781	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180750435	chr3:119697809-119697810	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552331526	chr3:119697810-119697811	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533792264	chr3:119697819-119697820	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150542506	chr3:119697840-119697841	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538062977	chr3:119697872-119697873	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140368527	chr3:119697878-119697879	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186628015	chr3:119697880-119697881	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73854756	chr3:119697913-119697914	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553741177	chr3:119697996-119697997	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576853569	chr3:119697997-119697998	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545875295	chr3:119698102-119698103	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556633731	chr3:119698135-119698136	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189418114	chr3:119698136-119698137	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181938806	chr3:119698176-119698177	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562200310	chr3:119698177-119698178	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112961544	chr3:119698189-119698190	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541790740	chr3:119698194-119698195	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560170968	chr3:119698201-119698202	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186751106	chr3:119698218-119698219	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11921053	chr3:119698226-119698227	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119630800-119697400	Weak transcription	Thymus	Thymus
2	chr3:119631000-119717000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:119656400-119700000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:119656600-119718400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:119662400-119700400	Weak transcription	Fetal Intestine Large	intestine
6	chr3:119664600-119700200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:119664600-119702400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr3:119665800-119697400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:119665800-119716800	Weak transcription	HSMM	muscle
10	chr3:119666000-119703000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:119666200-119700200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:119666200-119700400	Weak transcription	Fetal Thymus	thymus
13	chr3:119675600-119697400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:119678000-119697400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:119681200-119723200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:119681800-119700400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:119681800-119700800	Weak transcription	Ovary	ovary
18	chr3:119682000-119697400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:119682000-119697400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:119682000-119697600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr3:119682000-119698000	Weak transcription	Dnd41	blood
22	chr3:119682000-119700400	Weak transcription	Primary B cells from cord blood	blood
23	chr3:119682400-119700200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr3:119683600-119701800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:119684600-119699600	Weak transcription	Fetal Kidney	kidney
26	chr3:119687200-119716600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:119688200-119700400	Weak transcription	Pancreas	Pancrea
28	chr3:119689000-119710600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:119689000-119711800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:119689000-119722600	Weak transcription	Gastric	stomach
31	chr3:119689400-119697600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:119689800-119701600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:119692400-119697400	Weak transcription	Primary T cells from cord blood	blood
34	chr3:119692400-119701200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:119692400-119717000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:119692400-119723200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:119692600-119697400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:119692600-119700000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:119692800-119697200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:119693000-119700600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr3:119693600-119732200	Weak transcription	A549	lung
42	chr3:119694200-119697400	Weak transcription	Left Ventricle	heart
43	chr3:119694800-119700600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr3:119695000-119697200	Weak transcription	Fetal Stomach	stomach
45	chr3:119695000-119697400	Weak transcription	Hela-S3	cervix
46	chr3:119695400-119699400	Weak transcription	Fetal Lung	lung
47	chr3:119695600-119697200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:119695800-119697200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:119696200-119698000	Enhancers	HSMMtube	muscle
50	chr3:119696200-119698400	Enhancers	Psoas Muscle	Psoas

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