Variant report

Variant	nsv1010213
Chromosome Location	chr3:143775358-143863149
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:143851188..143852094-chr3:143864087..143864848,2	MCF-7	breast:
2	chr3:143802113..143803732-chr3:143807237..143809098,2	K562	blood:
3	chr3:143849261..143851661-chr3:143853910..143857233,3	K562	blood:
4	chr3:143852522..143854486-chr3:143858842..143860873,2	K562	blood:
5	chr3:143797616..143799320-chr3:143802598..143805481,2	MCF-7	breast:
6	chr3:143862145..143864475-chr3:143867360..143869304,2	K562	blood:
7	chr3:143796834..143798439-chr3:143800651..143803493,2	MCF-7	breast:
8	chr3:61879348..61880969-chr3:143831622..143834006,2	MCF-7	breast:
9	chr3:143717685..143719346-chr3:143782583..143784716,2	K562	blood:
10	chr3:143804757..143807049-chr3:143809436..143811343,2	MCF-7	breast:
11	chr3:143693440..143695168-chr3:143824981..143826507,2	K562	blood:
12	chr3:143689845..143691660-chr3:143783573..143785745,2	K562	blood:
13	chr3:143849261..143851661-chr3:143853910..143857233,3	K562	blood:
14	chr3:143804757..143807049-chr3:143809436..143811343,2	MCF-7	breast:
15	chr3:143802113..143803732-chr3:143807237..143809098,2	K562	blood:
16	chr3:143690118..143691701-chr3:143832544..143834145,2	K562	blood:
17	chr3:143796834..143798439-chr3:143800651..143803493,2	MCF-7	breast:
18	chr3:143852522..143855348-chr3:143858842..143861138,3	K562	blood:
19	chr3:143733934..143736908-chr3:143779115..143781560,2	K562	blood:
20	chr3:143852522..143855348-chr3:143858842..143861138,3	K562	blood:
21	chr3:143819810..143821704-chr3:143822907..143824829,2	K562	blood:
22	chr3:143852522..143854486-chr3:143858842..143860873,2	K562	blood:
23	chr3:143797616..143799320-chr3:143802598..143805481,2	MCF-7	breast:
24	chr3:143819810..143821704-chr3:143822907..143824829,2	K562	blood:
25	chr3:143690019..143692645-chr3:143838592..143840602,2	MCF-7	breast:
26	chr3:143689363..143691415-chr3:143803802..143806594,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000181744	chromatin interactions

Extended variants
information (count: 2488 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2488 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs749211	chr3:143775358-143775359	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539891608	chr3:143775382-143775383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140253716	chr3:143775413-143775414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570251932	chr3:143775433-143775434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559731472	chr3:143775461-143775462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555761937	chr3:143775485-143775486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192511752	chr3:143775533-143775534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181703659	chr3:143775566-143775567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547302167	chr3:143775630-143775631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150347125	chr3:143775634-143775635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145138788	chr3:143775714-143775715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573461088	chr3:143775717-143775718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542513983	chr3:143775720-143775721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529849875	chr3:143775727-143775728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544702275	chr3:143775744-143775745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563184875	chr3:143775808-143775809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117746109	chr3:143775832-143775833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141089360	chr3:143775841-143775842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561050885	chr3:143775938-143775939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114249154	chr3:143775983-143775984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562383706	chr3:143776001-143776002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16854880	chr3:143776047-143776048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559693563	chr3:143776061-143776062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115018820	chr3:143776087-143776088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371401218	chr3:143776088-143776089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551888462	chr3:143776093-143776094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1898265	chr3:143776096-143776097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552631727	chr3:143776135-143776136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570831100	chr3:143776138-143776139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537662098	chr3:143776151-143776152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28501617	chr3:143776178-143776179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375142906	chr3:143776189-143776190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150549391	chr3:143776190-143776191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59719768	chr3:143776193-143776194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549519755	chr3:143776194-143776195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1898264	chr3:143776198-143776199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530888127	chr3:143776200-143776201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5853158	chr3:143776214-143776215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138794097	chr3:143776258-143776259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552733455	chr3:143776280-143776281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142061776	chr3:143776345-143776346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538360770	chr3:143776430-143776431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538373619	chr3:143776444-143776445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556620965	chr3:143776446-143776447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186191092	chr3:143776452-143776453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542476495	chr3:143776456-143776457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190124104	chr3:143776489-143776490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113589244	chr3:143776490-143776491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79238889	chr3:143776504-143776505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75625953	chr3:143776505-143776506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143772200-143775600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:143772400-143775400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:143773000-143775600	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:143773000-143775600	Enhancers	HSMM	muscle
5	chr3:143773000-143778800	Weak transcription	Brain Substantia Nigra	brain
6	chr3:143774600-143775600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:143774800-143775400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:143774800-143775400	Enhancers	HSMMtube	muscle
9	chr3:143775000-143775800	Enhancers	Brain Anterior Caudate	brain
10	chr3:143775200-143775600	Enhancers	Brain Cingulate Gyrus	brain
11	chr3:143775200-143775600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr3:143775400-143775600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:143775400-143788400	Weak transcription	HSMMtube	muscle
14	chr3:143775600-143779000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:143775800-143778200	Weak transcription	Brain Anterior Caudate	brain
16	chr3:143776600-143778200	Enhancers	GM12878-XiMat	blood
17	chr3:143776800-143777600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:143778200-143779600	Enhancers	Brain Anterior Caudate	brain
19	chr3:143778800-143779400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:143778800-143779400	Enhancers	Brain Angular Gyrus	brain
21	chr3:143778800-143779400	Enhancers	Brain Substantia Nigra	brain
22	chr3:143779000-143779600	Enhancers	Brain Cingulate Gyrus	brain
23	chr3:143779400-143783200	Weak transcription	Brain Angular Gyrus	brain
24	chr3:143779400-143783200	Weak transcription	Brain Substantia Nigra	brain
25	chr3:143779600-143783600	Weak transcription	Brain Anterior Caudate	brain
26	chr3:143783200-143784200	Enhancers	Brain Substantia Nigra	brain
27	chr3:143783200-143784400	Enhancers	Brain Angular Gyrus	brain
28	chr3:143783600-143784600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr3:143783800-143784600	Enhancers	Brain Hippocampus Middle	brain
30	chr3:143784400-143785600	Weak transcription	Brain Angular Gyrus	brain
31	chr3:143785400-143785800	Enhancers	HSMM	muscle
32	chr3:143785600-143785800	Enhancers	Brain Angular Gyrus	brain
33	chr3:143785600-143785800	Enhancers	Brain Anterior Caudate	brain
34	chr3:143785800-143788600	Weak transcription	HSMM	muscle
35	chr3:143786400-143786800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr3:143788400-143788600	Enhancers	HSMMtube	muscle
37	chr3:143788600-143789000	Enhancers	HSMM	muscle
38	chr3:143788600-143789600	Weak transcription	HSMMtube	muscle
39	chr3:143792000-143792200	Active TSS	Fetal Brain Male	brain
40	chr3:143792000-143792400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr3:143792000-143792600	Enhancers	HSMMtube	muscle
42	chr3:143792200-143792600	Enhancers	Fetal Brain Male	brain
43	chr3:143792200-143793400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:143792200-143793400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr3:143792200-143793400	Enhancers	HSMM	muscle
46	chr3:143792400-143792800	Enhancers	Brain Cingulate Gyrus	brain
47	chr3:143792600-143792800	Active TSS	Fetal Brain Male	brain
48	chr3:143792600-143793400	Enhancers	NHEK	skin
49	chr3:143792600-143793800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr3:143793000-143793400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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