Variant report

Variant	nsv965227
Chromosome Location	chr3:157993125-157994234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:157994041-157994171	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000241723	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146784408	chr3:157993168-157993169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528384221	chr3:157993223-157993224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575856630	chr3:157993293-157993294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546618344	chr3:157993337-157993338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1193507	chr3:157993404-157993405	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529051845	chr3:157993409-157993410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1193506	chr3:157993471-157993472	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570130755	chr3:157993490-157993491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148941179	chr3:157993536-157993537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558888088	chr3:157993568-157993569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192522809	chr3:157993577-157993578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76602154	chr3:157993608-157993609	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73166370	chr3:157993629-157993630	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185618517	chr3:157993680-157993681	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190774031	chr3:157993697-157993698	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143173864	chr3:157993756-157993757	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182009950	chr3:157993757-157993758	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574975625	chr3:157993833-157993834	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs2682405	chr3:157993838-157993839	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs369505877	chr3:157993888-157993889	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs186060686	chr3:157993889-157993890	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528035315	chr3:157993923-157993924	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs2682404	chr3:157993937-157993938	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188911204	chr3:157993959-157993960	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs529218573	chr3:157993972-157993973	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs377444245	chr3:157993999-157994000	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs550808216	chr3:157994000-157994001	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs562700027	chr3:157994017-157994018	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs531021768	chr3:157994018-157994019	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs552428694	chr3:157994065-157994066	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs181238263	chr3:157994083-157994084	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs148281653	chr3:157994121-157994122	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs78643682	chr3:157994131-157994132	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs185286793	chr3:157994161-157994162	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs535776825	chr3:157994233-157994234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	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
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157963800-157995800	Weak transcription	Gastric	stomach
2	chr3:157984800-158001200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:157985000-157993800	Weak transcription	Ovary	ovary
4	chr3:157985200-157997200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr3:157985200-157997200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:157985600-157998400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:157986000-157998000	Weak transcription	Fetal Intestine Large	intestine
8	chr3:157986200-157997200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:157986200-158001200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:157986200-158006600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr3:157986400-157997200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:157986400-157997200	Weak transcription	Fetal Lung	lung
13	chr3:157986400-157997800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr3:157986400-157999200	Weak transcription	Adipose Nuclei	Adipose
15	chr3:157986400-158040000	Weak transcription	Primary B cells from cord blood	blood
16	chr3:157987600-157996000	Weak transcription	K562	blood
17	chr3:157988200-157993800	Weak transcription	Aorta	Aorta
18	chr3:157988200-157993800	Weak transcription	Left Ventricle	heart
19	chr3:157988200-157994000	Weak transcription	Lung	lung
20	chr3:157988200-157999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:157988200-158009600	Weak transcription	Pancreas	Pancrea
22	chr3:157988400-157995600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:157988400-157997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:157988400-158001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:157990200-157995600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:157990200-157996000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:157990600-157993400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:157990600-157993400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:157990800-157993800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:157990800-157995600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:157990800-157997600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr3:157991200-157994000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr3:157991200-157997600	Weak transcription	Right Ventricle	heart
34	chr3:157991800-157996800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:157992200-157993800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr3:157992400-157993200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr3:157992400-157994200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:157992600-157996000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr3:157993000-157993400	Strong transcription	Primary T cells from cord blood	blood
40	chr3:157993000-157995200	Weak transcription	Dnd41	blood
41	chr3:157993200-157994800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr3:157993400-157994200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:157993400-158054600	Weak transcription	Primary T cells from cord blood	blood
44	chr3:157993600-157993800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
45	chr3:157993800-157994200	ZNF genes & repeats	Aorta	Aorta
46	chr3:157993800-157994200	Strong transcription	Left Ventricle	heart
47	chr3:157993800-157996000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr3:157993800-158040600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr3:157994000-157994200	ZNF genes & repeats	Lung	lung
50	chr3:157994200-157995400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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