Variant report

Variant	nsv980023
Chromosome Location	chr3:143981697-144036271
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:144026496..144028084-chr3:144029746..144032575,2	MCF-7	breast:
2	chr3:143691791..143694005-chr3:143990028..143992353,2	K562	blood:
3	chr3:143689712..143692723-chr3:144026505..144028595,3	MCF-7	breast:
4	chr12:53061288..53061963-chr3:143990811..143991640,2	MCF-7	breast:
5	chr12:53342265..53345092-chr3:144025098..144026936,2	MCF-7	breast:
6	chr3:144012906..144014762-chr3:144016607..144019319,2	MCF-7	breast:
7	chr3:144012906..144014762-chr3:144016607..144019319,2	MCF-7	breast:
8	chr3:143985749..143987878-chr3:143995682..143998153,2	MCF-7	breast:
9	chr3:144026496..144028084-chr3:144029746..144032575,2	MCF-7	breast:
10	chr3:143985749..143987878-chr3:143995682..143998153,2	MCF-7	breast:
11	chr3:143690773..143693147-chr3:144024947..144027838,2	K562	blood:
12	chr3:143689784..143692345-chr3:144032931..144035365,2	MCF-7	breast:
13	chr3:143690687..143692253-chr3:144007125..144008743,2	MCF-7	breast:
14	chr3:143690547..143692210-chr3:143990164..143992308,2	MCF-7	breast:
15	chr3:143694158..143694846-chr3:143996996..143997942,2	MCF-7	breast:
16	chr3:143976073..143978906-chr3:143983000..143985910,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170421	chromatin interactions
ENSG00000181744	chromatin interactions
ENSG00000111057	chromatin interactions

Extended variants
information (count: 1634 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1634 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148579290	chr3:143981736-143981737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190459857	chr3:143981740-143981741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542210987	chr3:143981751-143981752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182073916	chr3:143981789-143981790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs57462783	chr3:143981804-143981805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570584980	chr3:143981812-143981813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61647903	chr3:143981835-143981836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs61478319	chr3:143981857-143981858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561047837	chr3:143981861-143981862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115538999	chr3:143981954-143981955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536651660	chr3:143981964-143981965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552729467	chr3:143981965-143981966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557855884	chr3:143982004-143982005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573473279	chr3:143982015-143982016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140231566	chr3:143982026-143982027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144058212	chr3:143982030-143982031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577381191	chr3:143982056-143982057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550033139	chr3:143982120-143982121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543864159	chr3:143982121-143982122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562245324	chr3:143982170-143982171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187676484	chr3:143982232-143982233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547770576	chr3:143982332-143982333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559749686	chr3:143982333-143982334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190420511	chr3:143982359-143982360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546669709	chr3:143982363-143982364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116063665	chr3:143982413-143982414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34415862	chr3:143982439-143982440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570593650	chr3:143982463-143982464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34703287	chr3:143982469-143982470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7650262	chr3:143982472-143982473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373075915	chr3:143982503-143982504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34326166	chr3:143982549-143982550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532329460	chr3:143982551-143982552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17670978	chr3:143982561-143982562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs116677355	chr3:143982579-143982580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536783203	chr3:143982594-143982595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556773265	chr3:143982619-143982620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554128197	chr3:143982620-143982621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369984840	chr3:143982626-143982627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564621882	chr3:143982630-143982631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146791917	chr3:143982660-143982661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146448848	chr3:143982717-143982718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569147642	chr3:143982719-143982720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141025288	chr3:143982769-143982770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183011324	chr3:143982798-143982799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11924344	chr3:143982824-143982825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150132950	chr3:143982875-143982876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185337612	chr3:143982876-143982877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554629246	chr3:143982879-143982880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572584433	chr3:143982882-143982883	Weak transcription Enhancers	n/a	n/a	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
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
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143980800-143982800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr3:143981000-143983400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:143982600-143982800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:143982800-143983000	Enhancers	Brain Hippocampus Middle	brain
5	chr3:143982800-143983400	Enhancers	GM12878-XiMat	blood
6	chr3:143982800-143983800	Enhancers	Aorta	Aorta
7	chr3:143982800-143983800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr3:143982800-143984000	Enhancers	Brain Cingulate Gyrus	brain
9	chr3:143982800-143984400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr3:143982800-143985000	Enhancers	Brain Substantia Nigra	brain
11	chr3:143983000-143983600	Enhancers	Fetal Stomach	stomach
12	chr3:143983000-143984200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:143983200-143984000	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:143983400-143984400	Weak transcription	GM12878-XiMat	blood
15	chr3:143983400-143984800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:143983400-143985000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:143983800-143984200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:143983800-143984200	Active TSS	Right Atrium	heart
19	chr3:143983800-143984800	Enhancers	Adipose Nuclei	Adipose
20	chr3:143983800-143985000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:143984000-143984200	Active TSS	Brain Hippocampus Middle	brain
22	chr3:143984000-143984400	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr3:143984200-143984400	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr3:143984200-143984600	Enhancers	HUVEC	blood vessel
25	chr3:143984200-143984800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:143984200-143984800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:143984200-143984800	Enhancers	Brain Angular Gyrus	brain
28	chr3:143984200-143984800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr3:143984400-143984800	Enhancers	Brain Cingulate Gyrus	brain
30	chr3:143984400-143985000	Enhancers	GM12878-XiMat	blood
31	chr3:143984600-143984800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:143984800-143985000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr3:143984800-143987200	Weak transcription	Brain Angular Gyrus	brain
34	chr3:143985000-143988400	Weak transcription	GM12878-XiMat	blood
35	chr3:143988200-143990000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr3:143988400-143989400	Enhancers	GM12878-XiMat	blood
37	chr3:143988600-143989400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:143988600-143989800	Enhancers	Primary B cells from peripheral blood	blood
39	chr3:143988600-143989800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:143989400-143989800	ZNF genes & repeats	GM12878-XiMat	blood
41	chr3:143989800-143992400	Weak transcription	GM12878-XiMat	blood
42	chr3:143990600-143991000	Bivalent Enhancer	Fetal Kidney	kidney
43	chr3:143991000-143992600	Enhancers	Fetal Kidney	kidney
44	chr3:143991400-143991800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:143991400-143992000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:143991400-143993000	Enhancers	Rectal Smooth Muscle	rectum
47	chr3:143991600-143991800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:143991800-143992000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr3:143991800-143992000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:143991800-143999800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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