Variant report

Variant	nsv999332
Chromosome Location	chr3:99690207-99774720
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:78)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:78 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:99742093..99744324-chr3:99758867..99761377,2	MCF-7	breast:
2	chr3:99760023..99762628-chr3:99763026..99765995,4	MCF-7	breast:
3	chr3:99741282..99743622-chr3:99746551..99748156,2	MCF-7	breast:
4	chr3:99725260..99727118-chr3:99731245..99734144,3	K562	blood:
5	chr3:99610779..99612838-chr3:99701671..99703484,2	MCF-7	breast:
6	chr3:99719980..99722131-chr3:99722963..99725848,2	K562	blood:
7	chr3:99768194..99771099-chr3:99774948..99777546,2	MCF-7	breast:
8	chr3:99593477..99597773-chr3:99758944..99761226,4	K562	blood:
9	chr3:99746722..99749482-chr3:99759616..99761759,2	MCF-7	breast:
10	chr3:99708217..99709816-chr3:99718365..99721213,2	MCF-7	breast:
11	chr3:99589389..99592521-chr3:99720573..99723632,4	MCF-7	breast:
12	chr3:99626736..99629187-chr3:99773539..99775564,2	MCF-7	breast:
13	chr3:99652546..99654648-chr3:99721251..99724198,2	MCF-7	breast:
14	chr3:99720592..99723772-chr3:99724475..99727275,3	MCF-7	breast:
15	chr3:99564424..99566018-chr3:99722701..99724331,2	MCF-7	breast:
16	chr3:99773385..99774935-chr3:99776387..99778505,2	K562	blood:
17	chr3:99601766..99603960-chr3:99724495..99726434,2	MCF-7	breast:
18	chr3:99594649..99596564-chr3:99719153..99720665,2	MCF-7	breast:
19	chr3:99686804..99688799-chr3:99690706..99692750,2	MCF-7	breast:
20	chr3:99592735..99594887-chr3:99722394..99724729,2	MCF-7	breast:
21	chr3:99753937..99756360-chr3:99757732..99759441,2	K562	blood:
22	chr3:99738958..99740738-chr3:99742397..99744464,2	K562	blood:
23	chr3:99737874..99740754-chr3:99755442..99757239,2	K562	blood:
24	chr3:99593399..99595369-chr3:99721874..99725950,4	MCF-7	breast:
25	chr3:99699563..99701368-chr3:99701807..99704469,2	MCF-7	breast:
26	chr3:99535115..99538387-chr3:99721301..99723851,3	MCF-7	breast:
27	chr3:99720592..99723772-chr3:99724475..99727275,3	MCF-7	breast:
28	chr3:99756496..99759063-chr3:99760481..99762156,3	MCF-7	breast:
29	chr3:99693171..99696076-chr3:99698445..99701698,3	MCF-7	breast:
30	chr3:99729166..99730951-chr3:99734873..99736487,2	MCF-7	breast:
31	chr3:99618971..99621795-chr3:99720299..99722726,2	MCF-7	breast:
32	chr3:99723727..99725718-chr3:99976911..99979235,2	K562	blood:
33	chr3:99584410..99586958-chr3:99739042..99741066,2	K562	blood:
34	chr3:99721792..99723539-chr3:99765840..99767973,2	MCF-7	breast:
35	chr3:99762380..99765452-chr3:99771776..99774107,3	K562	blood:
36	chr3:99756496..99759063-chr3:99760481..99762156,3	MCF-7	breast:
37	chr3:99697715..99700181-chr3:99746878..99748971,2	K562	blood:
38	chr3:99729166..99730951-chr3:99734873..99736487,2	MCF-7	breast:
39	chr3:99742093..99744324-chr3:99758867..99761377,2	MCF-7	breast:
40	chr3:99741282..99743622-chr3:99746551..99748156,2	MCF-7	breast:
41	chr3:99770192..99771868-chr3:99780463..99783303,2	MCF-7	breast:
42	chr3:99757965..99760484-chr3:99766104..99767644,2	MCF-7	breast:
43	chr3:99720235..99722178-chr3:99725439..99727332,2	MCF-7	breast:
44	chr3:99741319..99743139-chr3:99748165..99750114,2	K562	blood:
45	chr3:99753937..99756360-chr3:99757732..99759441,2	K562	blood:
46	chr3:99760023..99762628-chr3:99763026..99765995,4	MCF-7	breast:
47	chr3:99590595..99595669-chr3:99758441..99761467,5	MCF-7	breast:
48	chr3:99535676..99538284-chr3:99742285..99745121,2	MCF-7	breast:
49	chr3:99744838..99746537-chr3:99747775..99750213,2	MCF-7	breast:
50	chr3:99723070..99725877-chr3:99978503..99980301,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000036054	chromatin interactions
ENSG00000184220	chromatin interactions
ENSG00000168386	chromatin interactions

Extended variants
information (count: 2793 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2793 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58704213	chr3:99690331-99690332	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554321952	chr3:99690374-99690375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572544173	chr3:99690425-99690426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73859911	chr3:99690439-99690440	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555103524	chr3:99690504-99690505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576551864	chr3:99690603-99690604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544142797	chr3:99690613-99690614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77601716	chr3:99690622-99690623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577254029	chr3:99690641-99690642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146417086	chr3:99690666-99690667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147864265	chr3:99690681-99690682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141448231	chr3:99690721-99690722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75910607	chr3:99690777-99690778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184607449	chr3:99690836-99690837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143598431	chr3:99690847-99690848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531381029	chr3:99690880-99690881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148046915	chr3:99690914-99690915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571530864	chr3:99690915-99690916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141723013	chr3:99690928-99690929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115064012	chr3:99690953-99690954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35777905	chr3:99690970-99690971	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536783106	chr3:99691011-99691012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554763416	chr3:99691012-99691013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189928416	chr3:99691038-99691039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537233652	chr3:99691140-99691141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369415620	chr3:99691240-99691241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192142039	chr3:99691242-99691243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577094920	chr3:99691270-99691271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35974126	chr3:99691271-99691272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184506234	chr3:99691276-99691277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553313439	chr3:99691282-99691283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542925212	chr3:99691288-99691289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571701931	chr3:99691319-99691320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560895456	chr3:99691336-99691337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150122703	chr3:99691385-99691386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138601123	chr3:99691423-99691424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531546440	chr3:99691458-99691459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs68092024	chr3:99691522-99691523	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565179481	chr3:99691556-99691557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532405971	chr3:99691616-99691617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188304816	chr3:99691634-99691635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566126049	chr3:99691637-99691638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76720187	chr3:99691676-99691677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7640964	chr3:99691694-99691695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570019922	chr3:99691871-99691872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537675475	chr3:99691904-99691905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79783910	chr3:99691914-99691915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76110454	chr3:99691926-99691927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370113834	chr3:99691930-99691931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547696930	chr3:99692062-99692063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	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
Neurodevelopmental disorder	22521361	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1278 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99677400-99696600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr3:99677600-99692600	Weak transcription	Fetal Lung	lung
3	chr3:99678800-99691800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr3:99679600-99697000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:99685400-99691400	Weak transcription	Right Atrium	heart
6	chr3:99686000-99690400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:99686400-99691200	Weak transcription	Fetal Stomach	stomach
8	chr3:99686400-99691400	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:99686400-99691800	Weak transcription	Fetal Intestine Small	intestine
10	chr3:99686600-99691200	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:99686600-99691200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:99686600-99693400	Weak transcription	Placenta	Placenta
13	chr3:99687000-99691200	Weak transcription	HSMM	muscle
14	chr3:99687000-99691400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:99687000-99691400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:99687000-99693000	Weak transcription	Stomach Mucosa	stomach
17	chr3:99687200-99690600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:99687200-99695200	Weak transcription	Primary B cells from cord blood	blood
19	chr3:99688600-99690400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:99688600-99694200	Weak transcription	Left Ventricle	heart
21	chr3:99689200-99693000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:99689200-99697400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:99689600-99690800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr3:99689800-99690600	Enhancers	Psoas Muscle	Psoas
25	chr3:99689800-99702000	Weak transcription	Primary T cells from cord blood	blood
26	chr3:99690000-99692800	Weak transcription	GM12878-XiMat	blood
27	chr3:99690200-99690600	Enhancers	NHEK	skin
28	chr3:99690400-99690600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:99690400-99690600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:99690400-99690600	Enhancers	HMEC	breast
31	chr3:99690400-99690800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:99690600-99691000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:99690600-99691200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:99690600-99697400	Weak transcription	Psoas Muscle	Psoas
35	chr3:99690800-99691400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr3:99691000-99691800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:99691000-99691800	Enhancers	Brain Hippocampus Middle	brain
38	chr3:99691200-99691600	Enhancers	Brain Angular Gyrus	brain
39	chr3:99691200-99691600	Enhancers	Fetal Muscle Leg	muscle
40	chr3:99691200-99691600	Enhancers	Stomach Smooth Muscle	stomach
41	chr3:99691200-99691600	Enhancers	HSMM	muscle
42	chr3:99691200-99691600	Enhancers	HSMMtube	muscle
43	chr3:99691200-99691800	Enhancers	Fetal Stomach	stomach
44	chr3:99691400-99691600	Enhancers	Right Atrium	heart
45	chr3:99691400-99691600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr3:99691400-99691800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr3:99691400-99691800	Enhancers	Brain Cingulate Gyrus	brain
48	chr3:99691400-99691800	Enhancers	Brain Substantia Nigra	brain
49	chr3:99691400-99691800	Enhancers	Rectal Smooth Muscle	rectum
50	chr3:99691400-99692000	Enhancers	Colon Smooth Muscle	Colon

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