Variant report

Variant	nsv877336
Chromosome Location	chr3:110083045-110143891
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:110108423..110110947-chr3:110115263..110116866,2	K562	blood:
2	chr3:110102631..110105369-chr3:110107761..110109914,2	MCF-7	breast:
3	chr3:110108423..110110947-chr3:110115263..110116866,2	K562	blood:
4	chr3:110101594..110103351-chr3:110109665..110111945,2	K562	blood:
5	chr3:110127793..110130696-chr3:110131755..110134003,2	K562	blood:
6	chr3:110129196..110131425-chr3:110132503..110134599,2	K562	blood:
7	chr3:110102631..110105369-chr3:110107761..110109914,2	MCF-7	breast:
8	chr3:110129196..110131425-chr3:110132503..110134599,2	K562	blood:
9	chr3:110127793..110130696-chr3:110131755..110134003,2	K562	blood:
10	chr3:110133663..110135868-chr3:110137549..110139998,2	K562	blood:
11	chr3:110133663..110135868-chr3:110137549..110139998,2	K562	blood:
12	chr3:110136396..110138262-chr4:117404422..117405927,2	MCF-7	breast:
13	chr3:110101594..110103351-chr3:110109665..110111945,2	K562	blood:
14	chr3:110064640..110067348-chr3:110084597..110086905,2	MCF-7	breast:

No data

Extended variants
information (count: 1920 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1920 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12634736	chr3:110083045-110083046	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566673781	chr3:110083048-110083049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535243342	chr3:110083163-110083164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7610542	chr3:110083802-110083803	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537751242	chr3:110083832-110083833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371964927	chr3:110083871-110083872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75517252	chr3:110083893-110083894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374277536	chr3:110083896-110083897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371093038	chr3:110083897-110083898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143355885	chr3:110083905-110083906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181728163	chr3:110083926-110083927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187158633	chr3:110083941-110083942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189531610	chr3:110083956-110083957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531715700	chr3:110085814-110085815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185108342	chr3:110085850-110085851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143114452	chr3:110085915-110085916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534374451	chr3:110085935-110085936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576574404	chr3:110085943-110085944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547713699	chr3:110085968-110085969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567604911	chr3:110085989-110085990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540238438	chr3:110086051-110086052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535885193	chr3:110086064-110086065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190352487	chr3:110086151-110086152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181181817	chr3:110086192-110086193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538367850	chr3:110086258-110086259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575960423	chr3:110086298-110086299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558589018	chr3:110086310-110086311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572170828	chr3:110086318-110086319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146762480	chr3:110086328-110086329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140365627	chr3:110086358-110086359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574778514	chr3:110086366-110086367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112007743	chr3:110086391-110086392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562747904	chr3:110086407-110086408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531697259	chr3:110086410-110086411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551604170	chr3:110086413-110086414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565356709	chr3:110086420-110086421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527915179	chr3:110086429-110086430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547575841	chr3:110086448-110086449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567666367	chr3:110086456-110086457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536554500	chr3:110086474-110086475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185539944	chr3:110086489-110086490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569568548	chr3:110086513-110086514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34642548	chr3:110086537-110086538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538602751	chr3:110086548-110086549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187996569	chr3:110086559-110086560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373799059	chr3:110086598-110086599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572095800	chr3:110086623-110086624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534858114	chr3:110086635-110086636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554804950	chr3:110086650-110086651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574644395	chr3:110086668-110086669	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Rett syndrome	21593744	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110083000-110083200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr3:110083800-110084000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:110085800-110086800	Enhancers	K562	blood
4	chr3:110085800-110087200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:110094200-110094800	Enhancers	Ovary	ovary
6	chr3:110094200-110095200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr3:110094200-110095600	Enhancers	Fetal Lung	lung
8	chr3:110094400-110095200	Enhancers	Fetal Intestine Large	intestine
9	chr3:110094800-110095200	Enhancers	Rectal Smooth Muscle	rectum
10	chr3:110095000-110095400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr3:110095000-110095400	Enhancers	HepG2	liver
12	chr3:110095400-110095800	Enhancers	Fetal Intestine Small	intestine
13	chr3:110097200-110097800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:110097400-110097600	Enhancers	NHDF-Ad	bronchial
15	chr3:110097400-110098000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:110097600-110097800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:110097800-110101000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:110098000-110101000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:110100400-110100600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:110100600-110101200	Enhancers	Hela-S3	cervix
21	chr3:110100600-110101400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:110100600-110101600	Enhancers	Liver	Liver
23	chr3:110100600-110103800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:110100600-110103800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:110100800-110101000	Weak transcription	NHDF-Ad	bronchial
26	chr3:110101000-110101200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:110101000-110101200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:110101000-110101200	Enhancers	NHDF-Ad	bronchial
29	chr3:110101000-110101400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:110101000-110101400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:110101200-110102600	Weak transcription	Hela-S3	cervix
32	chr3:110101200-110102600	Weak transcription	NHDF-Ad	bronchial
33	chr3:110101400-110102400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:110101400-110103000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:110101400-110110600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:110102400-110104600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:110102400-110104600	Enhancers	Osteobl	bone
38	chr3:110102600-110102800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:110102600-110103600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr3:110102600-110103600	Enhancers	NHDF-Ad	bronchial
41	chr3:110102600-110105400	Enhancers	Hela-S3	cervix
42	chr3:110102800-110103400	Enhancers	HSMM	muscle
43	chr3:110102800-110104400	Enhancers	A549	lung
44	chr3:110103000-110103400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:110103000-110103800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:110103000-110104200	Enhancers	NHLF	lung
47	chr3:110103000-110105200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr3:110103800-110110000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:110105200-110110800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:110105600-110106000	Weak transcription	Hela-S3	cervix

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