Variant report

Variant	nsv820119
Chromosome Location	chr3:142523218-142525209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142517462..142521813-chr3:142523317..142528126,6	K562	blood:
2	chr3:142517462..142519257-chr3:142525193..142528126,2	K562	blood:
3	chr3:142522907..142524681-chr3:142538977..142541173,2	MCF-7	breast:
4	chr3:142294703..142296575-chr3:142522509..142525334,2	MCF-7	breast:
5	chr3:142524560..142526927-chr3:142527541..142530171,3	K562	blood:
6	chr3:142519586..142522583-chr3:142524020..142526626,3	K562	blood:

Variant related genes	Relation type
ENSG00000251787	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575528120	chr3:142523232-142523233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113117655	chr3:142523249-142523250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143387100	chr3:142523348-142523349	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs3821647	chr3:142523349-142523350	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181862056	chr3:142523369-142523370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369893981	chr3:142523396-142523397	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373088860	chr3:142523397-142523398	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs199726410	chr3:142523439-142523440	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375230438	chr3:142523455-142523456	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572962710	chr3:142523456-142523457	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs199857690	chr3:142523475-142523476	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs139536491	chr3:142523482-142523483	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372982222	chr3:142523504-142523505	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576899651	chr3:142523543-142523544	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540164489	chr3:142523544-142523545	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4259003	chr3:142523555-142523556	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs377753914	chr3:142523559-142523560	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528023063	chr3:142523560-142523561	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs13092976	chr3:142523571-142523572	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542171907	chr3:142523575-142523576	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143060625	chr3:142523578-142523579	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs560692363	chr3:142523595-142523596	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370171949	chr3:142523599-142523600	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185181414	chr3:142523656-142523657	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs13070626	chr3:142523664-142523665	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113744430	chr3:142523674-142523675	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs13070635	chr3:142523675-142523676	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532631883	chr3:142523676-142523677	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552247563	chr3:142523677-142523678	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551105147	chr3:142523682-142523683	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570651388	chr3:142523929-142523930	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs74724064	chr3:142523930-142523931	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549588783	chr3:142523945-142523946	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568384620	chr3:142523947-142523948	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs146928591	chr3:142523958-142523959	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs202232627	chr3:142523962-142523963	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536506141	chr3:142523965-142523966	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113704382	chr3:142523969-142523970	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371727346	chr3:142523970-142523971	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs80342433	chr3:142523971-142523972	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201408832	chr3:142523972-142523973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs4683694	chr3:142523973-142523974	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs71153991	chr3:142524009-142524010	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534021028	chr3:142524013-142524014	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112989705	chr3:142524045-142524046	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558671300	chr3:142524088-142524089	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs76560578	chr3:142524121-142524122	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544348029	chr3:142524165-142524166	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556093579	chr3:142524284-142524285	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140342775	chr3:142524322-142524323	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142468200-142525200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:142468400-142525200	Weak transcription	Fetal Brain Male	brain
3	chr3:142468400-142526800	Weak transcription	NHDF-Ad	bronchial
4	chr3:142468400-142529400	Weak transcription	Brain Germinal Matrix	brain
5	chr3:142468600-142525200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:142475000-142527200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:142488800-142527000	Weak transcription	Brain Anterior Caudate	brain
8	chr3:142490200-142529400	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:142495400-142527000	Weak transcription	Brain Angular Gyrus	brain
10	chr3:142498600-142526800	Weak transcription	Osteobl	bone
11	chr3:142499000-142527000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:142499400-142547800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:142501600-142525000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:142501600-142525600	Weak transcription	Fetal Stomach	stomach
15	chr3:142501800-142527000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:142501800-142528000	Weak transcription	Left Ventricle	heart
17	chr3:142501800-142535600	Weak transcription	Aorta	Aorta
18	chr3:142502000-142529400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:142510400-142527200	Weak transcription	A549	lung
20	chr3:142510600-142523600	Weak transcription	HepG2	liver
21	chr3:142513600-142523400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:142513600-142527200	Weak transcription	Brain Substantia Nigra	brain
23	chr3:142514600-142523400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:142514800-142572000	Weak transcription	Right Ventricle	heart
25	chr3:142515000-142523400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:142515000-142530800	Weak transcription	HSMM	muscle
27	chr3:142515600-142527000	Weak transcription	K562	blood
28	chr3:142517600-142526800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:142518800-142527200	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:142519000-142572000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:142519200-142523400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr3:142519200-142526600	Weak transcription	NHLF	lung
33	chr3:142519800-142530000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:142520800-142525000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr3:142521400-142525000	Strong transcription	Adipose Nuclei	Adipose
36	chr3:142521400-142525200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:142521400-142528800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:142521600-142526800	Weak transcription	NH-A	brain
39	chr3:142522200-142526600	Weak transcription	Fetal Lung	lung
40	chr3:142522200-142526800	Weak transcription	HMEC	breast
41	chr3:142522200-142551800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:142522400-142530000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:142522800-142523600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:142522800-142523600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:142522800-142524000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:142522800-142525000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:142522800-142528600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:142523000-142524600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:142523000-142525200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:142523000-142528200	Weak transcription	Ovary	ovary

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