Variant report

Variant	nsv877569
Chromosome Location	chr3:143762420-143825439
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:143689845..143691660-chr3:143783573..143785745,2	K562	blood:
2	chr3:143802113..143803732-chr3:143807237..143809098,2	K562	blood:
3	chr3:143796834..143798439-chr3:143800651..143803493,2	MCF-7	breast:
4	chr3:143796834..143798439-chr3:143800651..143803493,2	MCF-7	breast:
5	chr3:143690072..143692415-chr3:143771127..143773744,2	MCF-7	breast:
6	chr3:143797616..143799320-chr3:143802598..143805481,2	MCF-7	breast:
7	chr3:143691918..143694518-chr3:143770201..143772805,2	K562	blood:
8	chr3:143819810..143821704-chr3:143822907..143824829,2	K562	blood:
9	chr3:143717685..143719346-chr3:143782583..143784716,2	K562	blood:
10	chr3:143804757..143807049-chr3:143809436..143811343,2	MCF-7	breast:
11	chr3:143804757..143807049-chr3:143809436..143811343,2	MCF-7	breast:
12	chr3:143819810..143821704-chr3:143822907..143824829,2	K562	blood:
13	chr3:143797616..143799320-chr3:143802598..143805481,2	MCF-7	breast:
14	chr3:143735422..143737968-chr3:143770929..143772909,2	K562	blood:
15	chr3:143733934..143736908-chr3:143779115..143781560,2	K562	blood:
16	chr3:143693440..143695168-chr3:143824981..143826507,2	K562	blood:
17	chr3:143689363..143691415-chr3:143803802..143806594,3	MCF-7	breast:
18	chr3:143802113..143803732-chr3:143807237..143809098,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181744	chromatin interactions

Extended variants
information (count: 1567 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1567 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11706025	chr3:143762420-143762421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373553905	chr3:143762432-143762433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550901862	chr3:143762481-143762482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577513287	chr3:143762490-143762491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189748023	chr3:143762498-143762499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376799388	chr3:143762500-143762501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536592058	chr3:143762539-143762540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548463864	chr3:143762573-143762574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145146597	chr3:143762579-143762580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528497874	chr3:143762588-143762589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183067984	chr3:143762594-143762595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13314252	chr3:143762673-143762674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576881756	chr3:143762680-143762681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537907108	chr3:143762690-143762691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556088583	chr3:143762710-143762711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146423632	chr3:143762729-143762730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75701167	chr3:143762737-143762738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369034244	chr3:143762783-143762784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566747818	chr3:143762785-143762786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78938009	chr3:143762786-143762787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540282377	chr3:143762838-143762839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149021708	chr3:143762870-143762871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143020900	chr3:143762909-143762910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148232471	chr3:143762932-143762933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551048335	chr3:143762964-143762965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9834790	chr3:143762966-143762967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75852399	chr3:143762973-143762974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141191036	chr3:143762984-143762985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146992578	chr3:143763063-143763064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566844127	chr3:143763064-143763065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534472937	chr3:143763075-143763076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376537643	chr3:143763105-143763106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551895524	chr3:143763135-143763136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570381232	chr3:143763148-143763149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537591209	chr3:143763151-143763152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114808226	chr3:143763187-143763188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568298478	chr3:143763238-143763239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376303048	chr3:143763284-143763285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377392033	chr3:143763377-143763378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370122127	chr3:143763424-143763425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373717001	chr3:143763488-143763489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535625565	chr3:143763560-143763561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553983187	chr3:143763589-143763590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572379058	chr3:143763603-143763604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535415875	chr3:143763616-143763617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61242307	chr3:143763634-143763635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561548965	chr3:143763735-143763736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186240967	chr3:143763741-143763742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577156686	chr3:143763758-143763759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528629387	chr3:143763771-143763772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21509527	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143758800-143764000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:143764000-143765400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr3:143764000-143765400	Enhancers	HSMM	muscle
4	chr3:143764400-143764800	Enhancers	NHLF	lung
5	chr3:143764800-143765200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:143764800-143765200	Enhancers	HSMMtube	muscle
7	chr3:143765000-143765400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:143765200-143769800	Weak transcription	HSMMtube	muscle
9	chr3:143765400-143769600	Weak transcription	HSMM	muscle
10	chr3:143765400-143772200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:143766600-143767000	Enhancers	Fetal Intestine Small	intestine
12	chr3:143767400-143771200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:143768000-143772800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:143769600-143770600	Enhancers	HSMM	muscle
15	chr3:143769800-143770400	Enhancers	HSMMtube	muscle
16	chr3:143770200-143770400	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:143770400-143772400	Weak transcription	HSMMtube	muscle
18	chr3:143770600-143772400	Weak transcription	HSMM	muscle
19	chr3:143771200-143771400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:143771400-143772400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:143772200-143772400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:143772200-143773000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:143772200-143773000	Enhancers	Brain Angular Gyrus	brain
24	chr3:143772200-143773000	Enhancers	Brain Substantia Nigra	brain
25	chr3:143772200-143773000	Enhancers	NH-A	brain
26	chr3:143772200-143773000	Enhancers	NHEK	skin
27	chr3:143772200-143773000	Enhancers	Osteobl	bone
28	chr3:143772200-143773200	Enhancers	Brain Cingulate Gyrus	brain
29	chr3:143772200-143773200	Enhancers	NHDF-Ad	bronchial
30	chr3:143772200-143775600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:143772400-143772600	Enhancers	HSMM	muscle
32	chr3:143772400-143772800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:143772400-143772800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr3:143772400-143773000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:143772400-143773000	Enhancers	HMEC	breast
36	chr3:143772400-143773200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr3:143772400-143773200	Enhancers	HSMMtube	muscle
38	chr3:143772400-143773200	Enhancers	NHLF	lung
39	chr3:143772400-143773400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:143772400-143775400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:143772600-143773000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:143772600-143773000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:143772600-143773000	Enhancers	Brain Hippocampus Middle	brain
44	chr3:143772600-143773000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr3:143772600-143773000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:143772600-143773000	Flanking Active TSS	HSMM	muscle
47	chr3:143772800-143773000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:143772800-143773000	Enhancers	Brain Anterior Caudate	brain
49	chr3:143772800-143774000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:143772800-143774200	Enhancers	Muscle Satellite Cultured Cells	--

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