Variant report

Variant	esv2753296
Chromosome Location	chr3:155487298-155491298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:155489809..155491892-chr3:155496902..155499266,2	K562	blood:
2	chr3:155488449..155490862-chr3:155570678..155572291,2	MCF-7	breast:
3	chr3:155481429..155485286-chr3:155486373..155491702,5	K562	blood:
4	chr3:155480147..155483683-chr3:155487368..155490043,3	K562	blood:
5	chr3:155489353..155491545-chr3:155498387..155500105,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169359	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs186861816	chr3:155487329-155487330	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs576536156	chr3:155487373-155487374	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs191502498	chr3:155487397-155487398	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs16825394	chr3:155487452-155487453	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532839828	chr3:155487468-155487469	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs371717671	chr3:155487476-155487477	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373668887	chr3:155487531-155487532	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs530226917	chr3:155487558-155487559	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568701945	chr3:155487559-155487560	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs183811812	chr3:155487560-155487561	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs73873413	chr3:155487587-155487588	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs139179427	chr3:155487644-155487645	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185434814	chr3:155487772-155487773	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538514405	chr3:155487790-155487791	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190293842	chr3:155487805-155487806	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12488583	chr3:155487826-155487827	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565298904	chr3:155487859-155487860	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535782498	chr3:155487865-155487866	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114450070	chr3:155487882-155487883	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74354181	chr3:155487900-155487901	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576049102	chr3:155487902-155487903	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377540433	chr3:155487965-155487966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182055818	chr3:155487971-155487972	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186691163	chr3:155487986-155487987	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369402041	chr3:155488048-155488049	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112255675	chr3:155488062-155488063	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149889925	chr3:155488108-155488109	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559788016	chr3:155488109-155488110	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574932741	chr3:155488117-155488118	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553682067	chr3:155488135-155488136	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541848365	chr3:155488136-155488137	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571755846	chr3:155488187-155488188	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79289972	chr3:155488205-155488206	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530886353	chr3:155488238-155488239	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558246963	chr3:155488273-155488274	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549967439	chr3:155488283-155488284	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs16834525	chr3:155488333-155488334	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs13065685	chr3:155488335-155488336	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532280217	chr3:155488338-155488339	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17283638	chr3:155488341-155488342	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143871553	chr3:155488375-155488376	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536287831	chr3:155488381-155488382	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139880812	chr3:155488399-155488400	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143254345	chr3:155488414-155488415	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369421379	chr3:155488544-155488545	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs536719838	chr3:155488561-155488562	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs193218206	chr3:155488570-155488571	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577466726	chr3:155488574-155488575	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535227345	chr3:155488577-155488578	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs358731	chr3:155488663-155488664	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155463800-155487800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:155463800-155501200	Weak transcription	Aorta	Aorta
3	chr3:155464200-155487600	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:155464200-155487600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:155464200-155487800	Weak transcription	Adipose Nuclei	Adipose
6	chr3:155464200-155487800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:155464200-155487800	Weak transcription	Pancreas	Pancrea
8	chr3:155464200-155489600	Weak transcription	Brain Anterior Caudate	brain
9	chr3:155464200-155490600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:155464600-155487800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:155467200-155500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:155467200-155508000	Weak transcription	K562	blood
13	chr3:155467200-155508800	Weak transcription	Hela-S3	cervix
14	chr3:155467400-155508400	Weak transcription	HepG2	liver
15	chr3:155470400-155487400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:155470400-155487600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:155470800-155487400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:155471000-155487400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:155471000-155487800	Weak transcription	Right Ventricle	heart
20	chr3:155471200-155487600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:155471400-155509000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:155471800-155487600	Weak transcription	Brain Angular Gyrus	brain
23	chr3:155472200-155487600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:155472800-155488000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:155472800-155500000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:155473200-155487400	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:155473200-155487400	Weak transcription	Thymus	Thymus
28	chr3:155474200-155487600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:155474200-155487800	Weak transcription	Spleen	Spleen
30	chr3:155474200-155490600	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:155474200-155497600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:155474400-155492000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr3:155474800-155487400	Weak transcription	Dnd41	blood
34	chr3:155474800-155487800	Weak transcription	Primary T cells from cord blood	blood
35	chr3:155474800-155489000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr3:155475200-155491000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr3:155475200-155492200	Weak transcription	Fetal Kidney	kidney
38	chr3:155476400-155487400	Weak transcription	Left Ventricle	heart
39	chr3:155476400-155487800	Weak transcription	Fetal Stomach	stomach
40	chr3:155476600-155500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:155477000-155487600	Weak transcription	Ovary	ovary
42	chr3:155478400-155487400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:155478400-155487400	Weak transcription	Brain Germinal Matrix	brain
44	chr3:155478600-155509000	Weak transcription	Gastric	stomach
45	chr3:155478800-155487400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:155478800-155487800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr3:155478800-155487800	Weak transcription	Psoas Muscle	Psoas
48	chr3:155478800-155492600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:155479000-155487400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:155479000-155492000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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