Variant report

Variant	nsv599335
Chromosome Location	chr5:107196998-107199211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12189428	chr5:107196998-107196999	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35423470	chr5:107197047-107197048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397882218	chr5:107197049-107197050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541298894	chr5:107197082-107197083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527484700	chr5:107197093-107197094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35343876	chr5:107197108-107197109	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs148975144	chr5:107197125-107197126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569430814	chr5:107197137-107197138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3217379	chr5:107197148-107197149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397881820	chr5:107197156-107197157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538058501	chr5:107197205-107197206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143734406	chr5:107197206-107197207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568429994	chr5:107197282-107197283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533903934	chr5:107197303-107197304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553726735	chr5:107197314-107197315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376664117	chr5:107197376-107197377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138387486	chr5:107197390-107197391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143844606	chr5:107197418-107197419	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs369567983	chr5:107197419-107197420	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs61749621	chr5:107197420-107197421	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs373905015	chr5:107197473-107197474	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs368164862	chr5:107197501-107197502	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs34990078	chr5:107197502-107197503	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs561938338	chr5:107197519-107197520	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs531559246	chr5:107197526-107197527	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs138232838	chr5:107197529-107197530	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs572350610	chr5:107197532-107197533	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs375040831	chr5:107197538-107197539	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs149163100	chr5:107197547-107197548	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201479758	chr5:107197555-107197556	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs549692367	chr5:107197582-107197583	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs373611277	chr5:107197588-107197589	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs201164208	chr5:107197596-107197597	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs367710674	chr5:107197598-107197599	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs372146267	chr5:107197604-107197605	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs571384892	chr5:107197611-107197612	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs147233004	chr5:107197613-107197614	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs549801524	chr5:107197622-107197623	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189361131	chr5:107197658-107197659	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531897986	chr5:107197670-107197671	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs181402256	chr5:107197671-107197672	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs568342693	chr5:107197686-107197687	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs78569848	chr5:107197710-107197711	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs554062240	chr5:107197715-107197716	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs138219664	chr5:107197716-107197717	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs57585211	chr5:107197725-107197726	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184846290	chr5:107197740-107197741	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs112740397	chr5:107197939-107197940	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571346365	chr5:107198036-107198037	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141770114	chr5:107198063-107198064	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107189000-107204000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:107189000-107212200	Weak transcription	Fetal Brain Male	brain
3	chr5:107192800-107197200	Weak transcription	Primary T cells from cord blood	blood
4	chr5:107194000-107219000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:107195200-107197400	Weak transcription	Right Ventricle	heart
6	chr5:107195200-107214800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:107195400-107197400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:107195400-107197400	Weak transcription	Gastric	stomach
9	chr5:107195400-107204800	Weak transcription	Brain Anterior Caudate	brain
10	chr5:107195400-107205000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:107195400-107207600	Weak transcription	Spleen	Spleen
12	chr5:107195400-107208600	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:107195400-107211600	Weak transcription	Aorta	Aorta
14	chr5:107195400-107214200	Weak transcription	Primary B cells from cord blood	blood
15	chr5:107195400-107215000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr5:107195400-107215000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:107195400-107217800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:107195400-107220000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:107195400-107223200	Weak transcription	Left Ventricle	heart
20	chr5:107195600-107197400	Weak transcription	Pancreas	Pancrea
21	chr5:107195600-107204600	Weak transcription	Fetal Stomach	stomach
22	chr5:107195800-107214400	Weak transcription	Fetal Intestine Small	intestine
23	chr5:107195800-107218200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:107196000-107199200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:107196000-107204200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:107196000-107210800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:107196200-107199000	Weak transcription	Dnd41	blood
28	chr5:107196200-107200200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:107196400-107200800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:107196400-107202600	Weak transcription	Placenta	Placenta
31	chr5:107196800-107197400	Strong transcription	Esophagus	oesophagus
32	chr5:107196800-107197600	Strong transcription	Ovary	ovary
33	chr5:107196800-107197800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:107196800-107197800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:107196800-107198000	Strong transcription	Adipose Nuclei	Adipose
36	chr5:107196800-107198000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr5:107196800-107198200	Strong transcription	Liver	Liver
38	chr5:107196800-107203400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:107196800-107205000	Weak transcription	HSMM	muscle
40	chr5:107196800-107223200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr5:107197000-107200800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:107197200-107197800	Strong transcription	Primary T cells from cord blood	blood
43	chr5:107197400-107197600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:107197400-107197600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:107197400-107197600	ZNF genes & repeats	Pancreas	Pancrea
46	chr5:107197400-107197800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:107197400-107197800	Genic enhancers	Esophagus	oesophagus
48	chr5:107197400-107197800	Genic enhancers	Gastric	stomach
49	chr5:107197400-107197800	ZNF genes & repeats	Lung	lung
50	chr5:107197400-107197800	Strong transcription	Right Ventricle	heart

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