Variant report

Variant	esv1829863
Chromosome Location	chr5:97674522-97678414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs6596729	chr5:97674522-97674523	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553751757	chr5:97674529-97674530	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563332961	chr5:97674546-97674547	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148466797	chr5:97674552-97674553	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549086166	chr5:97674570-97674571	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78034816	chr5:97674583-97674584	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534401892	chr5:97674587-97674588	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371878157	chr5:97674653-97674654	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545580285	chr5:97674656-97674657	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs56019301	chr5:97674686-97674687	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546835223	chr5:97674706-97674707	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571485970	chr5:97674712-97674713	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539353152	chr5:97674739-97674740	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557335847	chr5:97674747-97674748	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575615733	chr5:97674770-97674771	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187840862	chr5:97674777-97674778	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555110240	chr5:97674792-97674793	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192358942	chr5:97674795-97674796	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61733677	chr5:97674800-97674801	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559618107	chr5:97674809-97674810	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368000729	chr5:97674838-97674839	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577748561	chr5:97674863-97674864	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545305584	chr5:97674876-97674877	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6888275	chr5:97674908-97674909	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530536318	chr5:97674918-97674919	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548742726	chr5:97674930-97674931	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147180443	chr5:97674948-97674949	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528197742	chr5:97674960-97674961	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557473775	chr5:97674961-97674962	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571522248	chr5:97675008-97675009	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538828006	chr5:97675012-97675013	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551258131	chr5:97675014-97675015	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569411695	chr5:97675018-97675019	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536943928	chr5:97675022-97675023	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555048925	chr5:97675029-97675030	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566850679	chr5:97675040-97675041	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374142424	chr5:97675093-97675094	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559063082	chr5:97675101-97675102	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116527576	chr5:97675152-97675153	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61740530	chr5:97675161-97675162	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs55870934	chr5:97675180-97675181	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145240667	chr5:97675228-97675229	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557107104	chr5:97675301-97675302	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575493924	chr5:97675302-97675303	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542489575	chr5:97675312-97675313	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374648126	chr5:97675336-97675337	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528043706	chr5:97675337-97675338	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7703823	chr5:97675361-97675362	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564589754	chr5:97675397-97675398	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532751145	chr5:97675400-97675401	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97672800-97676400	Weak transcription	Osteobl	bone
2	chr5:97673600-97676800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:97674000-97674800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:97674400-97674600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:97674400-97674800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:97674400-97675400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:97674400-97675600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:97674800-97675200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:97674800-97675400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:97675000-97675200	ZNF genes & repeats	NHLF	lung
11	chr5:97675200-97676400	Weak transcription	NHLF	lung
12	chr5:97675200-97676600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:97675400-97678200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:97675400-97678800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:97675600-97676600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:97676200-97677200	Enhancers	NHDF-Ad	bronchial
17	chr5:97676400-97676600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:97676400-97677600	Enhancers	NH-A	brain
19	chr5:97676400-97678200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:97676400-97678200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:97676400-97678200	Enhancers	HSMMtube	muscle
22	chr5:97676400-97678400	Enhancers	HSMM	muscle
23	chr5:97676400-97678400	Enhancers	NHLF	lung
24	chr5:97676400-97678600	Enhancers	Osteobl	bone
25	chr5:97676400-97678800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:97676600-97677400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:97676600-97677400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:97676600-97677400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:97676600-97677600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:97676600-97677600	Enhancers	Fetal Intestine Large	intestine
31	chr5:97676600-97677600	Enhancers	Fetal Intestine Small	intestine
32	chr5:97676800-97677000	Enhancers	Gastric	stomach
33	chr5:97676800-97677400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:97676800-97677400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:97676800-97677600	Enhancers	Fetal Stomach	stomach
36	chr5:97676800-97677600	Enhancers	NHEK	skin
37	chr5:97676800-97678000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:97676800-97678600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:97677000-97677200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr5:97677200-97677600	Flanking Active TSS	NHDF-Ad	bronchial
41	chr5:97677400-97677600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:97677400-97678200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:97677600-97677800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:97677600-97678000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:97677600-97678600	Enhancers	NHDF-Ad	bronchial
46	chr5:97678000-97678800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:97678200-97685000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:97678200-97685000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:97678200-97685000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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