Variant report

Variant	esv3431831
Chromosome Location	chr5:46318595-46372693
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	chr17:57915525..57918399-chr5:46361638..46364174,2	MCF-7	breast:
2	chr1:121483702..121485225-chr5:46334811..46336331,2	MCF-7	breast:

Extended variants
information (count: 7071 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:7071 , 50 per page) page: 1 2 3 4 5 6 7 ... 142

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532351669	chr5:46318595-46318596	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs191784158	chr5:46318621-46318622	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs74517176	chr5:46318624-46318625	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs8185385	chr5:46318634-46318635	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113019115	chr5:46318635-46318636	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs568628865	chr5:46318645-46318646	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs534258117	chr5:46318648-46318649	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs554481574	chr5:46318650-46318651	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs570483229	chr5:46318682-46318683	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs539403190	chr5:46318715-46318716	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374756763	chr5:46318725-46318726	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs183142879	chr5:46318730-46318731	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576011177	chr5:46318734-46318735	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs541908800	chr5:46318742-46318743	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs555315022	chr5:46318789-46318790	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs572192533	chr5:46318795-46318796	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562461561	chr5:46318809-46318810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs4128261	chr5:46318814-46318815	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs118105123	chr5:46318825-46318826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs576843160	chr5:46318830-46318831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs545752016	chr5:46318831-46318832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs562897510	chr5:46318861-46318862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs144033283	chr5:46318875-46318876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548646006	chr5:46318923-46318924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562171478	chr5:46318976-46318977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs187601375	chr5:46318983-46318984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs548123243	chr5:46319007-46319008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs191654214	chr5:46319011-46319012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs539441212	chr5:46319020-46319021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs549851370	chr5:46319021-46319022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559148820	chr5:46319034-46319035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs569625155	chr5:46319043-46319044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs536739893	chr5:46319070-46319071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs555420121	chr5:46319090-46319091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs572170703	chr5:46319095-46319096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs182702105	chr5:46319119-46319120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs557640823	chr5:46319130-46319131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs187685845	chr5:46319137-46319138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs146769387	chr5:46319169-46319170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs548213672	chr5:46319171-46319172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs562775972	chr5:46319190-46319191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs576363278	chr5:46319197-46319198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs541977483	chr5:46319209-46319210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs192505988	chr5:46319210-46319211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs140333168	chr5:46319213-46319214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs547962039	chr5:46319218-46319219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs564668831	chr5:46319224-46319225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs144113261	chr5:46319232-46319233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs185645129	chr5:46319233-46319234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs569580916	chr5:46319247-46319248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46318400-46318800	Active TSS	Fetal Heart	heart
2	chr5:46318400-46319800	ZNF genes & repeats	Liver	Liver
3	chr5:46318600-46341600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr5:46320200-46328000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:46320600-46323800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:46321600-46328800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr5:46321600-46330400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr5:46321800-46322200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:46321800-46322400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:46321800-46322400	ZNF genes & repeats	Left Ventricle	heart
11	chr5:46321800-46322600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr5:46322000-46322200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
13	chr5:46322000-46322200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr5:46322000-46322400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:46322000-46322400	ZNF genes & repeats	Fetal Heart	heart
16	chr5:46323200-46341800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr5:46323800-46324000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
18	chr5:46324000-46325800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr5:46324600-46325800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:46325400-46327800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:46325600-46326000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:46325600-46326000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:46325600-46326000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
24	chr5:46325600-46326400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:46325600-46327400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr5:46325800-46326000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr5:46325800-46326000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:46325800-46326000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
29	chr5:46325800-46326000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:46325800-46326000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:46325800-46326000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
32	chr5:46325800-46326000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:46325800-46326000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
34	chr5:46325800-46326000	ZNF genes & repeats	Brain Angular Gyrus	brain
35	chr5:46325800-46326000	ZNF genes & repeats	Brain Anterior Caudate	brain
36	chr5:46325800-46326000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
37	chr5:46325800-46326000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:46325800-46326000	ZNF genes & repeats	Colonic Mucosa	Colon
39	chr5:46325800-46326000	ZNF genes & repeats	Fetal Brain Male	brain
40	chr5:46325800-46326000	ZNF genes & repeats	Fetal Kidney	kidney
41	chr5:46325800-46326000	ZNF genes & repeats	Left Ventricle	heart
42	chr5:46325800-46326000	ZNF genes & repeats	Right Atrium	heart
43	chr5:46325800-46326000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
44	chr5:46325800-46326000	ZNF genes & repeats	Stomach Mucosa	stomach
45	chr5:46325800-46326000	ZNF genes & repeats	Dnd41	blood
46	chr5:46325800-46326000	ZNF genes & repeats	GM12878-XiMat	blood
47	chr5:46325800-46326000	ZNF genes & repeats	Hela-S3	cervix
48	chr5:46325800-46326000	ZNF genes & repeats	HSMMtube	muscle
49	chr5:46325800-46326000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr5:46325800-46326000	ZNF genes & repeats	NH-A	brain

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