Variant report

Variant	rs62264485
Chromosome Location	chr3:119237798-119237799
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119237156..119239321-chr3:119242706..119244832,2	K562	blood:
2	chr3:119216267..119219022-chr3:119234970..119238819,4	MCF-7	breast:
3	chr3:119231563..119234574-chr3:119234818..119238744,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113845	Chromatin interaction
ENSG00000272662	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1131265	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12494314	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12636784	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13092998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293370	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305249	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34844599	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3732421	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57271503	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7650774	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9843355	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9855065	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9884090	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119219800-119239200	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:119220000-119243600	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:119220200-119246800	Weak transcription	Stomach Mucosa	stomach
4	chr3:119220800-119243800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:119221000-119244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:119221200-119243600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr3:119221200-119244400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:119221400-119245400	Strong transcription	Placenta	Placenta
9	chr3:119221600-119244600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:119222000-119245400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr3:119224000-119245200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:119226000-119245200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:119226000-119245200	Strong transcription	Liver	Liver
14	chr3:119226600-119245200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:119227000-119239800	Weak transcription	Psoas Muscle	Psoas
16	chr3:119227400-119245400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr3:119228000-119243600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:119228000-119250000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:119229200-119240200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:119229200-119244600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:119230600-119245400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr3:119230800-119244400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:119231200-119237800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:119231200-119237800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:119231200-119244000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:119231600-119238200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:119231600-119238200	Strong transcription	NHLF	lung
28	chr3:119231600-119240000	Strong transcription	HSMM	muscle
29	chr3:119231600-119240000	Strong transcription	Osteobl	bone
30	chr3:119231600-119240600	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:119231600-119243400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:119231800-119238200	Strong transcription	Brain Cingulate Gyrus	brain
33	chr3:119231800-119238800	Strong transcription	NHDF-Ad	bronchial
34	chr3:119231800-119239400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:119231800-119239400	Strong transcription	Primary B cells from cord blood	blood
36	chr3:119231800-119240200	Strong transcription	Primary T cells from cord blood	blood
37	chr3:119231800-119240200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr3:119231800-119240200	Strong transcription	Fetal Brain Male	brain
39	chr3:119231800-119240600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:119231800-119240800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:119231800-119243200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr3:119231800-119243400	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr3:119231800-119244000	Strong transcription	Adipose Nuclei	Adipose
44	chr3:119231800-119244800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:119231800-119245400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:119231800-119257200	Strong transcription	GM12878-XiMat	blood
47	chr3:119232000-119240200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr3:119232000-119243200	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr3:119232000-119244200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr3:119232000-119244200	Strong transcription	Brain Substantia Nigra	brain

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