Variant report

Variant	esv3396050
Chromosome Location	chr5:145106716-145109580
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	CBX3	chr5:145109249-145109584	K562	blood:	n/a	n/a
2	CTCF	chr5:145107910-145107985	GM10248	blood:	n/a	n/a
3	CTCF	chr5:145109079-145109123	Spleen_OC	spleen:	n/a	n/a
4	KAP1	chr5:145109056-145109744	K562	blood:	n/a	n/a
5	POLR2A	chr5:145108442-145108599	ProgFib	skin:	n/a	n/a
6	SP1	chr5:145109534-145109915	HepG2	liver:	n/a	n/a
7	TRIM28	chr5:145106360-145106733	K562	blood:	n/a	n/a
8	TRIM28	chr5:145109184-145109705	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000249363	TF binding region

Extended variants
information (count: 138 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188875631	chr5:145106733-145106734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550941159	chr5:145106770-145106771	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571242706	chr5:145106799-145106800	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558189108	chr5:145106854-145106855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181943057	chr5:145106863-145106864	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113055547	chr5:145106864-145106865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554006836	chr5:145106866-145106867	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573756432	chr5:145106875-145106876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550633671	chr5:145106877-145106878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536404761	chr5:145106898-145106899	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555621296	chr5:145106899-145106900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575805308	chr5:145106942-145106943	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565453375	chr5:145106954-145106955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146530230	chr5:145106985-145106986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187347553	chr5:145107062-145107063	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1835931	chr5:145107087-145107088	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144812211	chr5:145107117-145107118	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560799498	chr5:145107136-145107137	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190964033	chr5:145107143-145107144	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182738131	chr5:145107235-145107236	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186492630	chr5:145107242-145107243	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531292078	chr5:145107247-145107248	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551028890	chr5:145107262-145107263	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72492430	chr5:145107263-145107264	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199945536	chr5:145107305-145107306	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201128073	chr5:145107308-145107309	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62392317	chr5:145107327-145107328	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547384470	chr5:145107342-145107343	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375360587	chr5:145107346-145107347	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549496585	chr5:145107376-145107377	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190194337	chr5:145107386-145107387	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567540667	chr5:145107391-145107392	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543299625	chr5:145107423-145107424	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113113204	chr5:145107443-145107444	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556300767	chr5:145107445-145107446	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556634647	chr5:145107460-145107461	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370396870	chr5:145107504-145107505	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534445531	chr5:145107571-145107572	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538354926	chr5:145107576-145107577	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55828822	chr5:145107586-145107587	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2116817	chr5:145107622-145107623	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1654147	chr5:145107674-145107675	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs1654240	chr5:145107707-145107708	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs1654148	chr5:145107713-145107714	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114921186	chr5:145107722-145107723	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374256620	chr5:145107740-145107741	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139397590	chr5:145107747-145107748	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182380075	chr5:145107748-145107749	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377417104	chr5:145107757-145107758	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187404156	chr5:145107778-145107779	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145101600-145117400	Weak transcription	Gastric	stomach
2	chr5:145102200-145107600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:145105200-145111200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:145105400-145179000	Weak transcription	Pancreas	Pancrea
5	chr5:145106000-145107800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
6	chr5:145106000-145109800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:145106000-145111400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
8	chr5:145106200-145106800	ZNF genes & repeats	Fetal Heart	heart
9	chr5:145106200-145107200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
10	chr5:145106200-145107600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr5:145106200-145107800	ZNF genes & repeats	Ovary	ovary
12	chr5:145106200-145110000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr5:145106200-145111400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr5:145106200-145114000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:145106400-145106800	ZNF genes & repeats	Colonic Mucosa	Colon
16	chr5:145106400-145107000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:145106400-145107400	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr5:145106600-145107000	ZNF genes & repeats	Fetal Stomach	stomach
19	chr5:145106600-145107200	ZNF genes & repeats	Aorta	Aorta
20	chr5:145106600-145110600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr5:145106800-145108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:145107000-145107800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:145107000-145114200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:145107000-145114800	Weak transcription	Fetal Stomach	stomach
25	chr5:145107200-145123200	Weak transcription	Aorta	Aorta
26	chr5:145107400-145111000	Weak transcription	Right Ventricle	heart
27	chr5:145107600-145107800	ZNF genes & repeats	Left Ventricle	heart
28	chr5:145107600-145108000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
29	chr5:145107600-145108400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr5:145107800-145108800	Weak transcription	Ovary	ovary
31	chr5:145107800-145109200	Weak transcription	Left Ventricle	heart
32	chr5:145107800-145110200	ZNF genes & repeats	Fetal Intestine Large	intestine
33	chr5:145107800-145111800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:145108000-145115000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:145108400-145108600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:145108600-145110400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:145108600-145110400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr5:145108800-145109000	ZNF genes & repeats	Colon Smooth Muscle	Colon
39	chr5:145108800-145109600	ZNF genes & repeats	Ovary	ovary
40	chr5:145108800-145110800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
41	chr5:145109000-145109400	ZNF genes & repeats	Colonic Mucosa	Colon
42	chr5:145109000-145109600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:145109000-145109600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
44	chr5:145109200-145109400	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr5:145109200-145109400	ZNF genes & repeats	Left Ventricle	heart
46	chr5:145109400-145120600	Weak transcription	Left Ventricle	heart
47	chr5:145109400-145194400	Weak transcription	Colonic Mucosa	Colon

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