Variant report

Variant	nsv3945
Chromosome Location	chr3:110922029-110967244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:110924160..110925985-chr3:110928484..110930832,2	MCF-7	breast:
2	chr3:110924160..110925985-chr3:110928484..110930832,2	MCF-7	breast:

Extended variants
information (count: 1691 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1691 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148717985	chr3:110922031-110922032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559441661	chr3:110922134-110922135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181857037	chr3:110922144-110922145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548868575	chr3:110922145-110922146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568707770	chr3:110922168-110922169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537621192	chr3:110922236-110922237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7619417	chr3:110922282-110922283	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570533748	chr3:110922284-110922285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533300766	chr3:110922307-110922308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539112737	chr3:110922309-110922310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72937989	chr3:110922328-110922329	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377644588	chr3:110922405-110922406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535393189	chr3:110922415-110922416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555220684	chr3:110922443-110922444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566286737	chr3:110922484-110922485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370778025	chr3:110922496-110922497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187628792	chr3:110922572-110922573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575141234	chr3:110922622-110922623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7641469	chr3:110922641-110922642	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527508272	chr3:110922730-110922731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563899100	chr3:110922754-110922755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577272471	chr3:110922755-110922756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545953847	chr3:110922809-110922810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191553869	chr3:110922822-110922823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528463302	chr3:110922889-110922890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142294467	chr3:110922987-110922988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562368074	chr3:110923002-110923003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151270343	chr3:110923066-110923067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543354872	chr3:110923067-110923068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536202120	chr3:110923098-110923099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375077023	chr3:110923104-110923105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533059948	chr3:110923147-110923148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560140846	chr3:110923237-110923238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201134738	chr3:110923249-110923250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72350064	chr3:110923250-110923251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546360563	chr3:110923264-110923265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7622397	chr3:110923308-110923309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs535079741	chr3:110923380-110923381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183855843	chr3:110923388-110923389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78736576	chr3:110923390-110923391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73230804	chr3:110923404-110923405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557956553	chr3:110923421-110923422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139640100	chr3:110923424-110923425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71315869	chr3:110923462-110923463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553919997	chr3:110923513-110923514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10934077	chr3:110923593-110923594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540500253	chr3:110923631-110923632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191450898	chr3:110923654-110923655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573322750	chr3:110923668-110923669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556011514	chr3:110923689-110923690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110835600-110929600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:110869400-110929000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:110881000-110928000	Weak transcription	Osteobl	bone
4	chr3:110894000-110922800	Weak transcription	Gastric	stomach
5	chr3:110894000-110924000	Weak transcription	Fetal Stomach	stomach
6	chr3:110894000-110934400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:110894200-110924800	Weak transcription	Fetal Intestine Small	intestine
8	chr3:110894200-110925600	Weak transcription	NHLF	lung
9	chr3:110894200-110929600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:110899200-110935200	Weak transcription	Lung	lung
11	chr3:110903400-110929200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:110910200-110927200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:110912000-110923800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:110913400-110924200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:110913400-110932000	Weak transcription	Fetal Heart	heart
16	chr3:110914200-110924000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:110914200-110925800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:110914400-110924200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:110914400-110924200	Weak transcription	Left Ventricle	heart
20	chr3:110914400-110928400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:110915000-110924000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr3:110915000-110934200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:110915400-110928000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:110915600-110929800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:110916000-110928200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:110916200-110925600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:110916400-110924400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:110916600-110923800	Weak transcription	Dnd41	blood
29	chr3:110916800-110923800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:110917000-110922600	Weak transcription	NH-A	brain
31	chr3:110917000-110923400	Weak transcription	Liver	Liver
32	chr3:110917000-110933400	Weak transcription	Placenta	Placenta
33	chr3:110917200-110924200	Weak transcription	Fetal Lung	lung
34	chr3:110917200-110929000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:110917400-110923400	Weak transcription	Adipose Nuclei	Adipose
36	chr3:110917600-110928000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:110918400-110925000	Weak transcription	Pancreas	Pancrea
38	chr3:110919000-110923800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr3:110919200-110922600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr3:110919400-110922400	Strong transcription	HSMM	muscle
41	chr3:110919400-110924000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:110919400-110928800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:110919400-110928800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:110919400-110929000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr3:110919400-110929000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:110919400-110929600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:110919600-110923600	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:110919600-110928800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:110920000-110945800	Weak transcription	HSMMtube	muscle
50	chr3:110920400-110922800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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