Variant report

Variant	nsv591387
Chromosome Location	chr3:119352665-119353995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119348305..119350713-chr3:119351647..119354186,2	MCF-7	breast:
2	chr3:119297207..119300144-chr3:119352679..119354693,2	MCF-7	breast:
3	chr3:119326194..119327898-chr3:119353631..119355784,2	K562	blood:

Variant related genes	Relation type
ENSG00000144837	chromatin interactions
ENSG00000272967	chromatin interactions
ENSG00000144843	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17281758	chr3:119352665-119352666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111411620	chr3:119352669-119352670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9837943	chr3:119352670-119352671	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574081281	chr3:119352753-119352754	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374443054	chr3:119352754-119352755	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs569049447	chr3:119352779-119352780	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536301556	chr3:119352790-119352791	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533576831	chr3:119352799-119352800	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs554499996	chr3:119352800-119352801	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs60621722	chr3:119352803-119352804	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573122482	chr3:119352864-119352865	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs143881979	chr3:119352877-119352878	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs116214161	chr3:119352890-119352891	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs36115628	chr3:119352893-119352894	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs574302603	chr3:119352938-119352939	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs577055147	chr3:119352978-119352979	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs6770095	chr3:119353015-119353016	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs16830095	chr3:119353040-119353041	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs529815469	chr3:119353070-119353071	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs75803609	chr3:119353091-119353092	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs541369306	chr3:119353095-119353096	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs190179827	chr3:119353128-119353129	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs182296961	chr3:119353168-119353169	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs565473216	chr3:119353174-119353175	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs11921247	chr3:119353185-119353186	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs75272586	chr3:119353215-119353216	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs569069638	chr3:119353247-119353248	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536363079	chr3:119353297-119353298	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs370259504	chr3:119353302-119353303	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs141767666	chr3:119353303-119353304	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566935191	chr3:119353304-119353305	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs60971947	chr3:119353317-119353318	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558904597	chr3:119353321-119353322	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs529960392	chr3:119353331-119353332	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs528863900	chr3:119353346-119353347	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs75468267	chr3:119353360-119353361	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538089960	chr3:119353390-119353391	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs150568208	chr3:119353425-119353426	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs139544465	chr3:119353466-119353467	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs541964695	chr3:119353469-119353470	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs376538973	chr3:119353477-119353478	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs187372352	chr3:119353498-119353499	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs572091412	chr3:119353511-119353512	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs34961160	chr3:119353524-119353525	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs189854490	chr3:119353547-119353548	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545520585	chr3:119353554-119353555	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs564103828	chr3:119353558-119353559	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs532677388	chr3:119353624-119353625	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs569696227	chr3:119353644-119353645	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs143278765	chr3:119353656-119353657	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	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
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119340800-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:119341400-119364600	Weak transcription	Liver	Liver
3	chr3:119345200-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:119345800-119355200	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:119347800-119356400	Weak transcription	Fetal Thymus	thymus
6	chr3:119349400-119357600	Weak transcription	Fetal Intestine Small	intestine
7	chr3:119349600-119354400	Weak transcription	Fetal Stomach	stomach
8	chr3:119349600-119355000	Weak transcription	Spleen	Spleen
9	chr3:119349600-119357000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:119349800-119353800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:119349800-119354400	Weak transcription	Right Atrium	heart
12	chr3:119349800-119355000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr3:119349800-119356400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:119349800-119356400	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:119349800-119357000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:119350000-119354400	Weak transcription	Lung	lung
18	chr3:119350000-119354600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:119350000-119354600	Weak transcription	GM12878-XiMat	blood
20	chr3:119350000-119354600	Weak transcription	HUVEC	blood vessel
21	chr3:119350000-119354800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:119350000-119354800	Weak transcription	NHDF-Ad	bronchial
23	chr3:119350000-119355000	Weak transcription	NH-A	brain
24	chr3:119350000-119355000	Weak transcription	NHLF	lung
25	chr3:119350000-119355200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:119350400-119354800	Weak transcription	HSMM	muscle
27	chr3:119350400-119355000	Weak transcription	HSMMtube	muscle
28	chr3:119350600-119354800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:119350600-119355000	Weak transcription	Osteobl	bone
30	chr3:119350800-119354000	Weak transcription	Placenta	Placenta
31	chr3:119351000-119354800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:119351000-119355000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:119351000-119355000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr3:119351200-119354800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:119351400-119354600	Weak transcription	Pancreas	Pancrea
36	chr3:119351400-119354600	Weak transcription	Psoas Muscle	Psoas
37	chr3:119351400-119354800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:119351400-119355000	Weak transcription	K562	blood
39	chr3:119351400-119355400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:119351600-119354400	Weak transcription	Adipose Nuclei	Adipose
41	chr3:119351600-119355200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr3:119351800-119354000	Weak transcription	Fetal Heart	heart
43	chr3:119351800-119356400	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:119352000-119354000	Weak transcription	Left Ventricle	heart
45	chr3:119352000-119354400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:119352000-119354600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:119352000-119355000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr3:119352000-119355000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr3:119352000-119357400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:119352000-119378600	Weak transcription	Thymus	Thymus

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