Variant report

Variant	nsv592827
Chromosome Location	chr3:191064528-191073228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:191072104..191073931-chr3:191077551..191079300,2	K562	blood:
2	chr3:191047039..191048673-chr3:191068047..191069756,2	MCF-7	breast:
3	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
4	chr3:191060607..191064094-chr3:191071227..191073545,3	K562	blood:
5	chr3:191064142..191066044-chr3:191070268..191071943,3	K562	blood:
6	chr3:191071589..191073614-chr3:191084774..191087547,2	K562	blood:
7	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
8	chr3:191064142..191066044-chr3:191070268..191071943,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188958	chromatin interactions
ENSG00000152492	chromatin interactions

Extended variants
information (count: 318 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4677735	chr3:191064528-191064529	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533501769	chr3:191064567-191064568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182347271	chr3:191064568-191064569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566976016	chr3:191064632-191064633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16866496	chr3:191064647-191064648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375684484	chr3:191064686-191064687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141621183	chr3:191064773-191064774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569574581	chr3:191064818-191064819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143664856	chr3:191064823-191064824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186283859	chr3:191064854-191064855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs16866498	chr3:191064883-191064884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533662660	chr3:191064907-191064908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553782471	chr3:191064946-191064947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116538179	chr3:191064959-191064960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528869571	chr3:191064960-191064961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548747241	chr3:191065001-191065002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369281688	chr3:191065003-191065004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551327256	chr3:191065126-191065127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116017366	chr3:191065192-191065193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs58266557	chr3:191065201-191065202	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs74411264	chr3:191065219-191065220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201496936	chr3:191065223-191065224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74548272	chr3:191065227-191065228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545306429	chr3:191065243-191065244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564489073	chr3:191065246-191065247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs57369465	chr3:191065268-191065269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs74633614	chr3:191065282-191065283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs59855028	chr3:191065283-191065284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529359345	chr3:191065293-191065294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76607907	chr3:191065319-191065320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111866664	chr3:191065362-191065363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569088104	chr3:191065363-191065364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148076159	chr3:191065374-191065375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6444540	chr3:191065392-191065393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs570912823	chr3:191065413-191065414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533504397	chr3:191065434-191065435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs202232517	chr3:191065447-191065448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190562738	chr3:191065448-191065449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567399452	chr3:191065505-191065506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4677734	chr3:191065516-191065517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535948478	chr3:191065529-191065530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142011018	chr3:191065531-191065532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576272066	chr3:191065568-191065569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182803965	chr3:191065682-191065683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558846454	chr3:191065703-191065704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578078868	chr3:191065741-191065742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540662603	chr3:191065754-191065755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560282969	chr3:191065763-191065764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113336178	chr3:191065784-191065785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555433658	chr3:191065795-191065796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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	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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:191059600-191069800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:191060600-191064600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:191060600-191065400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:191060600-191068000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:191060600-191074800	Weak transcription	Primary B cells from cord blood	blood
7	chr3:191060800-191068400	Weak transcription	Stomach Mucosa	stomach
8	chr3:191061000-191065200	Weak transcription	A549	lung
9	chr3:191061000-191068200	Weak transcription	Right Atrium	heart
10	chr3:191061000-191068400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:191061000-191069400	Weak transcription	Spleen	Spleen
12	chr3:191061000-191070800	Weak transcription	Lung	lung
13	chr3:191061200-191068200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:191061200-191073200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:191061200-191073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:191061600-191068000	Weak transcription	Hela-S3	cervix
17	chr3:191061800-191067800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:191062000-191064600	Weak transcription	Fetal Lung	lung
19	chr3:191062000-191064800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:191062000-191065000	Weak transcription	NHLF	lung
21	chr3:191062000-191065800	Weak transcription	HepG2	liver
22	chr3:191062000-191066200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:191062000-191067800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:191062000-191067800	Weak transcription	NH-A	brain
25	chr3:191062000-191069200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:191062000-191075600	Weak transcription	K562	blood
27	chr3:191062200-191068000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:191062200-191068000	Weak transcription	Fetal Brain Male	brain
29	chr3:191062200-191068200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:191062200-191075400	Weak transcription	Fetal Brain Female	brain
31	chr3:191062600-191070800	Weak transcription	Pancreas	Pancrea
32	chr3:191062800-191066600	Weak transcription	Left Ventricle	heart
33	chr3:191062800-191068200	Weak transcription	Aorta	Aorta
34	chr3:191063000-191065000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr3:191063000-191065200	Weak transcription	Ovary	ovary
36	chr3:191063000-191065600	Weak transcription	GM12878-XiMat	blood
37	chr3:191063000-191076600	Weak transcription	Brain Substantia Nigra	brain
38	chr3:191063200-191064800	Weak transcription	Liver	Liver
39	chr3:191063200-191065200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:191063200-191066400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:191063400-191065400	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:191063400-191066000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:191063400-191066800	Weak transcription	Psoas Muscle	Psoas
44	chr3:191063400-191067200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:191063400-191067800	Weak transcription	Adipose Nuclei	Adipose
46	chr3:191063400-191068200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:191063400-191068400	Weak transcription	Small Intestine	intestine
48	chr3:191063600-191068000	Weak transcription	Osteobl	bone
49	chr3:191063600-191070800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr3:191063800-191064600	Enhancers	Pancreatic Islets	Pancreatic Islet

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