Variant report

Variant	nsv591246
Chromosome Location	chr3:105439522-105504129
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:105435086..105438281-chr3:105439598..105442695,3	MCF-7	breast:
2	chr3:105452868..105454661-chr3:105463117..105465166,2	K562	blood:
3	chr3:105497500..105500139-chr3:105500274..105501917,2	MCF-7	breast:
4	chr3:105452868..105454661-chr3:105463117..105465166,2	K562	blood:
5	chr3:105438428..105441312-chr3:105441392..105443154,2	K562	blood:
6	chr3:105481713..105484437-chr7:147483253..147485905,2	MCF-7	breast:
7	chr3:105438428..105441312-chr3:105441392..105443154,2	K562	blood:
8	chr3:105497500..105500139-chr3:105500274..105501917,2	MCF-7	breast:
9	chr3:105500783..105501463-chr5:106760926..106761803,2	MCF-7	breast:

No data

Extended variants
information (count: 2470 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2470 , 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	rs9288817	chr3:105439522-105439523	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535379192	chr3:105439545-105439546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553684852	chr3:105439576-105439577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13064310	chr3:105439595-105439596	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs79103963	chr3:105439678-105439679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs16851512	chr3:105439683-105439684	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543916085	chr3:105439693-105439694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189563749	chr3:105439706-105439707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532766389	chr3:105439745-105439746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376162743	chr3:105439762-105439763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546183783	chr3:105439766-105439767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547642853	chr3:105439784-105439785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560007193	chr3:105439847-105439848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572893735	chr3:105439861-105439862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540171684	chr3:105439891-105439892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530284932	chr3:105439912-105439913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529101529	chr3:105439932-105439933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550461474	chr3:105439953-105439954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562604946	chr3:105439967-105439968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547830569	chr3:105439972-105439973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182259956	chr3:105439984-105439985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566506228	chr3:105440003-105440004	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533744647	chr3:105440006-105440007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370798064	chr3:105440043-105440044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547335755	chr3:105440048-105440049	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141756079	chr3:105440091-105440092	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3772530	chr3:105440133-105440134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145514047	chr3:105440176-105440177	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113629014	chr3:105440183-105440184	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557094984	chr3:105440204-105440205	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373685186	chr3:105440234-105440235	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557814835	chr3:105440298-105440299	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570815370	chr3:105440319-105440320	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs3772529	chr3:105440354-105440355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3772528	chr3:105440360-105440361	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540200141	chr3:105440387-105440388	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561657707	chr3:105440403-105440404	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149210068	chr3:105440533-105440534	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551874446	chr3:105440557-105440558	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570177894	chr3:105440573-105440574	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375520168	chr3:105440617-105440618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74943899	chr3:105440650-105440651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551526489	chr3:105440663-105440664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560258021	chr3:105440668-105440669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58488774	chr3:105440864-105440865	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548961892	chr3:105440882-105440883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568740591	chr3:105440918-105440919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77860922	chr3:105440936-105440937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551247964	chr3:105440937-105440938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569386324	chr3:105440959-105440960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Renal cell carcinoma	21668985	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
small cell lung cancer	20016488	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
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1794 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
2	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:105379200-105440400	Weak transcription	Thymus	Thymus
5	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
6	chr3:105407800-105457800	Weak transcription	HepG2	liver
7	chr3:105408400-105440400	Weak transcription	A549	lung
8	chr3:105409000-105441600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:105412400-105441600	Weak transcription	Brain Substantia Nigra	brain
10	chr3:105417400-105443400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:105420800-105445600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:105421200-105441800	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:105421200-105465400	Weak transcription	Colonic Mucosa	Colon
14	chr3:105421400-105443000	Weak transcription	Fetal Intestine Small	intestine
15	chr3:105422000-105441400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr3:105425400-105442400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:105429800-105441200	Strong transcription	Osteobl	bone
18	chr3:105430600-105440200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr3:105431600-105439600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:105432000-105439800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:105432200-105441600	Strong transcription	Left Ventricle	heart
22	chr3:105432800-105463800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:105433600-105465600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr3:105433800-105445400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:105434400-105446600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:105434800-105463800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:105435000-105440400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:105435400-105440400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:105435400-105440600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:105436400-105440200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:105437000-105439600	Strong transcription	GM12878-XiMat	blood
32	chr3:105437400-105439600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:105437400-105439800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr3:105437800-105440000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:105438400-105441800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:105438800-105442000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:105438800-105442400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:105438800-105464000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:105438800-105465400	Weak transcription	Fetal Heart	heart
40	chr3:105439000-105441400	Weak transcription	Primary B cells from cord blood	blood
41	chr3:105439000-105441400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr3:105439000-105441600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr3:105439000-105441800	Weak transcription	Brain Angular Gyrus	brain
44	chr3:105439000-105441800	Weak transcription	Brain Anterior Caudate	brain
45	chr3:105439000-105442000	Weak transcription	Fetal Brain Female	brain
46	chr3:105439000-105442400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr3:105439000-105442800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr3:105439000-105445400	Weak transcription	Fetal Lung	lung
49	chr3:105439000-105446200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:105439000-105447200	Weak transcription	HSMM	muscle

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