Variant report

Variant	nsv591924
Chromosome Location	chr3:143776096-143864780
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000181744	chromatin interactions

Extended variants
information (count: 2517 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2517 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1898265	chr3:143776096-143776097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552631727	chr3:143776135-143776136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570831100	chr3:143776138-143776139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537662098	chr3:143776151-143776152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28501617	chr3:143776178-143776179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375142906	chr3:143776189-143776190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150549391	chr3:143776190-143776191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59719768	chr3:143776193-143776194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549519755	chr3:143776194-143776195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1898264	chr3:143776198-143776199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530888127	chr3:143776200-143776201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs5853158	chr3:143776214-143776215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138794097	chr3:143776258-143776259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552733455	chr3:143776280-143776281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142061776	chr3:143776345-143776346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538360770	chr3:143776430-143776431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538373619	chr3:143776444-143776445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556620965	chr3:143776446-143776447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186191092	chr3:143776452-143776453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542476495	chr3:143776456-143776457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190124104	chr3:143776489-143776490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113589244	chr3:143776490-143776491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79238889	chr3:143776504-143776505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75625953	chr3:143776505-143776506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529243228	chr3:143776569-143776570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182724015	chr3:143776632-143776633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76904649	chr3:143776664-143776665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186629501	chr3:143776681-143776682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542292286	chr3:143776694-143776695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368626435	chr3:143776746-143776747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190788770	chr3:143776751-143776752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138806506	chr3:143776753-143776754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563795454	chr3:143776792-143776793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536095181	chr3:143776808-143776809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530987729	chr3:143776863-143776864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148111372	chr3:143776885-143776886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554054413	chr3:143776893-143776894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567838474	chr3:143776913-143776914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528829300	chr3:143776994-143776995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141972125	chr3:143776999-143777000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183029261	chr3:143777011-143777012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570943353	chr3:143777092-143777093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572725101	chr3:143777099-143777100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78222054	chr3:143777107-143777108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150661529	chr3:143777110-143777111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568611626	chr3:143777223-143777224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536339095	chr3:143777229-143777230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554516868	chr3:143777269-143777270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572974008	chr3:143777305-143777306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540194427	chr3:143777414-143777415	Enhancers 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:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143773000-143778800	Weak transcription	Brain Substantia Nigra	brain
2	chr3:143775400-143788400	Weak transcription	HSMMtube	muscle
3	chr3:143775600-143779000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:143775800-143778200	Weak transcription	Brain Anterior Caudate	brain
5	chr3:143776600-143778200	Enhancers	GM12878-XiMat	blood
6	chr3:143776800-143777600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:143778200-143779600	Enhancers	Brain Anterior Caudate	brain
8	chr3:143778800-143779400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:143778800-143779400	Enhancers	Brain Angular Gyrus	brain
10	chr3:143778800-143779400	Enhancers	Brain Substantia Nigra	brain
11	chr3:143779000-143779600	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:143779400-143783200	Weak transcription	Brain Angular Gyrus	brain
13	chr3:143779400-143783200	Weak transcription	Brain Substantia Nigra	brain
14	chr3:143779600-143783600	Weak transcription	Brain Anterior Caudate	brain
15	chr3:143783200-143784200	Enhancers	Brain Substantia Nigra	brain
16	chr3:143783200-143784400	Enhancers	Brain Angular Gyrus	brain
17	chr3:143783600-143784600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr3:143783800-143784600	Enhancers	Brain Hippocampus Middle	brain
19	chr3:143784400-143785600	Weak transcription	Brain Angular Gyrus	brain
20	chr3:143785400-143785800	Enhancers	HSMM	muscle
21	chr3:143785600-143785800	Enhancers	Brain Angular Gyrus	brain
22	chr3:143785600-143785800	Enhancers	Brain Anterior Caudate	brain
23	chr3:143785800-143788600	Weak transcription	HSMM	muscle
24	chr3:143786400-143786800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:143788400-143788600	Enhancers	HSMMtube	muscle
26	chr3:143788600-143789000	Enhancers	HSMM	muscle
27	chr3:143788600-143789600	Weak transcription	HSMMtube	muscle
28	chr3:143792000-143792200	Active TSS	Fetal Brain Male	brain
29	chr3:143792000-143792400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:143792000-143792600	Enhancers	HSMMtube	muscle
31	chr3:143792200-143792600	Enhancers	Fetal Brain Male	brain
32	chr3:143792200-143793400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:143792200-143793400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr3:143792200-143793400	Enhancers	HSMM	muscle
35	chr3:143792400-143792800	Enhancers	Brain Cingulate Gyrus	brain
36	chr3:143792600-143792800	Active TSS	Fetal Brain Male	brain
37	chr3:143792600-143793400	Enhancers	NHEK	skin
38	chr3:143792600-143793800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:143793000-143793400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:143804600-143805400	Enhancers	NHEK	skin
41	chr3:143804800-143805200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:143806200-143806400	ZNF genes & repeats	Pancreas	Pancrea
43	chr3:143809600-143821200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:143814200-143814400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:143814400-143814600	Enhancers	Aorta	Aorta
46	chr3:143814400-143817000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr3:143814400-143818800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:143814600-143815000	Enhancers	Brain Cingulate Gyrus	brain
49	chr3:143814600-143817600	Weak transcription	Aorta	Aorta
50	chr3:143814800-143815600	Enhancers	Brain Anterior Caudate	brain

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