Variant report

Variant	rs61662147
Chromosome Location	chr3:138335599-138335600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:137908958..137910626-chr3:138333368..138336043,2	K562	blood:
2	chr3:138334799..138337572-chr3:138340483..138342350,2	MCF-7	breast:
3	chr3:138328930..138332756-chr3:138333514..138336895,4	K562	blood:
4	chr3:138335565..138337167-chr3:138338248..138339761,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11916525	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12630144	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12632793	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12632794	0.86[ASN][1000 genomes]
rs12635354	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12635904	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12636936	0.82[EUR][1000 genomes]
rs12637638	0.82[EUR][1000 genomes]
rs13059817	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13062423	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13067095	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13067864	0.86[ASN][1000 genomes]
rs13069355	0.86[ASN][1000 genomes]
rs13072751	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13073978	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13077766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13084780	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13093668	0.86[ASN][1000 genomes]
rs13095122	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13095125	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1563615	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1672928	0.94[ASN][1000 genomes]
rs1672931	0.92[ASN][1000 genomes]
rs1672933	0.88[ASN][1000 genomes]
rs1672936	0.93[ASN][1000 genomes]
rs2085446	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2085447	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2280596	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2305269	0.86[ASN][1000 genomes]
rs34011134	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34153951	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34284415	0.86[ASN][1000 genomes]
rs34316974	0.86[ASN][1000 genomes]
rs34377792	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34416776	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34482601	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34583117	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34607531	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34640717	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34652182	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34878008	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35034861	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35269190	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35340237	0.81[ASN][1000 genomes]
rs35489558	0.85[ASN][1000 genomes]
rs35549884	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35597846	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35834585	0.82[EUR][1000 genomes]
rs35876758	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35906980	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3773748	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56028542	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56654955	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57516770	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58873565	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59184769	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59371015	0.86[ASN][1000 genomes]
rs60371967	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60426689	0.86[EUR][1000 genomes]
rs61258082	0.88[ASN][1000 genomes]
rs654528	0.92[ASN][1000 genomes]
rs66775405	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67390774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67666216	0.81[ASN][1000 genomes]
rs6784770	0.87[ASN][1000 genomes]
rs773455	0.90[ASN][1000 genomes]
rs9049	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9880928	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv999041	chr3:138148812-138347988	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv3426644	chr3:138335287-138338135	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138328400-138350200	Weak transcription	Lung	lung
2	chr3:138328400-138353200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:138328400-138355000	Weak transcription	Esophagus	oesophagus
4	chr3:138328600-138346400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:138328600-138349400	Weak transcription	Ovary	ovary
6	chr3:138328600-138358000	Weak transcription	Psoas Muscle	Psoas
7	chr3:138328800-138344800	Weak transcription	NHDF-Ad	bronchial
8	chr3:138328800-138358000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:138329000-138336200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:138329000-138337600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:138329000-138338200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:138329000-138342200	Weak transcription	Fetal Stomach	stomach
13	chr3:138329000-138342800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:138329000-138344800	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:138329000-138346800	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:138329000-138347600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:138329000-138348000	Weak transcription	Fetal Intestine Large	intestine
18	chr3:138329000-138348200	Weak transcription	Left Ventricle	heart
19	chr3:138329000-138348400	Weak transcription	Aorta	Aorta
20	chr3:138329000-138348400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:138329000-138348600	Weak transcription	Fetal Intestine Small	intestine
22	chr3:138329000-138350000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:138329000-138354200	Weak transcription	Fetal Lung	lung
24	chr3:138329200-138337600	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:138329200-138342200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:138329200-138344600	Weak transcription	Osteobl	bone
27	chr3:138329200-138345000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:138329200-138348200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:138329600-138345600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:138330000-138336000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:138330800-138342200	Weak transcription	Pancreas	Pancrea
32	chr3:138331800-138337400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:138333200-138347000	Weak transcription	Fetal Thymus	thymus
34	chr3:138334200-138348600	Weak transcription	Thymus	Thymus
35	chr3:138334600-138345000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr3:138335400-138335800	Weak transcription	Gastric	stomach
37	chr3:138335400-138348200	Weak transcription	Adipose Nuclei	Adipose
38	chr3:138335400-138368000	Weak transcription	Right Ventricle	heart

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