Variant report

Variant	nsv979790
Chromosome Location	chr3:160198798-160199844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160197463..160200948-chr3:160202172..160205556,5	K562	blood:
2	chr3:160195689..160198943-chr3:160208326..160210743,3	K562	blood:
3	chr3:160198112..160200479-chr3:160205569..160207297,2	K562	blood:
4	chr3:160193260..160196104-chr3:160198716..160201117,2	K562	blood:

Variant related genes	Relation type
ENSG00000213186	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563364759	chr3:160198802-160198803	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577131123	chr3:160198807-160198808	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75215973	chr3:160198821-160198822	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554308379	chr3:160198828-160198829	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576266930	chr3:160198837-160198838	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543667251	chr3:160198839-160198840	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558499799	chr3:160198864-160198865	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577097733	chr3:160198902-160198903	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541169722	chr3:160199163-160199164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144901745	chr3:160199237-160199238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9834276	chr3:160199245-160199246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572732786	chr3:160199304-160199305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541472917	chr3:160199324-160199325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs151325436	chr3:160199365-160199366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531936959	chr3:160199380-160199381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550425102	chr3:160199392-160199393	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372124042	chr3:160199413-160199414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1971128	chr3:160199436-160199437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs564833720	chr3:160199475-160199476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532556762	chr3:160199485-160199486	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141797466	chr3:160199505-160199506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565837794	chr3:160199556-160199557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs180774167	chr3:160199566-160199567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112498678	chr3:160199570-160199571	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs71312301	chr3:160199572-160199573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570005538	chr3:160199627-160199628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138419852	chr3:160199636-160199637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs75161648	chr3:160199639-160199640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558805654	chr3:160199646-160199647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577157485	chr3:160199685-160199686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs142460066	chr3:160199709-160199710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553165111	chr3:160199807-160199808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574603924	chr3:160199816-160199817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs4680590	chr3:160199834-160199835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:57)

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
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160190600-160199600	Weak transcription	Brain Substantia Nigra	brain
2	chr3:160193400-160213000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:160195600-160199600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:160195800-160203600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:160196000-160199400	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:160196000-160199800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:160196000-160203000	Weak transcription	NHDF-Ad	bronchial
8	chr3:160196200-160203800	Weak transcription	NH-A	brain
9	chr3:160196200-160203800	Weak transcription	NHLF	lung
10	chr3:160196400-160200600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:160196400-160203000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:160196400-160203000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:160197200-160198800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:160197200-160199600	Weak transcription	Brain Anterior Caudate	brain
15	chr3:160197800-160203000	Weak transcription	Osteobl	bone
16	chr3:160198600-160199000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:160198600-160199000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:160198800-160199400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:160199000-160200200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:160199000-160211600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:160199400-160199800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:160199400-160200000	Enhancers	Brain Hippocampus Middle	brain
23	chr3:160199600-160200000	Enhancers	HepG2	liver
24	chr3:160199600-160200800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr3:160199600-160201000	Enhancers	Brain Substantia Nigra	brain
26	chr3:160199600-160201800	Enhancers	Brain Anterior Caudate	brain
27	chr3:160199800-160200000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:160199800-160200000	Enhancers	Brain Cingulate Gyrus	brain
29	chr3:160199800-160200400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr3:160199800-160200800	Enhancers	Brain Angular Gyrus	brain

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