Variant report

Variant	rs10482863
Chromosome Location	chr21:16335469-16335470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16331957..16335486-chr21:16435819..16438054,3	MCF-7	breast:
2	chr21:16334780..16336550-chr21:16340369..16342276,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12481775	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17241025	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2228508	0.90[YRI][hapmap]
rs2822998	0.81[ASW][hapmap]
rs35324633	0.86[AFR][1000 genomes]
rs3787576	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6517118	0.96[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	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10482863	MIR623	trans	lymphoblastoid	seeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16315600-16338000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr21:16322400-16339200	Weak transcription	Pancreas	Pancrea
3	chr21:16328000-16335800	Weak transcription	Dnd41	blood
4	chr21:16328200-16335600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:16328200-16335600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr21:16328200-16338800	Weak transcription	HUVEC	blood vessel
7	chr21:16328600-16335600	Weak transcription	K562	blood
8	chr21:16328600-16337600	Weak transcription	Psoas Muscle	Psoas
9	chr21:16328800-16335800	Weak transcription	Fetal Muscle Leg	muscle
10	chr21:16328800-16337200	Weak transcription	Left Ventricle	heart
11	chr21:16328800-16339400	Weak transcription	Ovary	ovary
12	chr21:16328800-16341600	Weak transcription	Hela-S3	cervix
13	chr21:16329000-16338000	Weak transcription	Placenta	Placenta
14	chr21:16329600-16335600	Weak transcription	Fetal Kidney	kidney
15	chr21:16329600-16338400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr21:16329600-16338800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr21:16330000-16337600	Weak transcription	Fetal Stomach	stomach
18	chr21:16330400-16338600	Weak transcription	NHLF	lung
19	chr21:16330600-16337200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:16331000-16335600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr21:16331000-16335800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr21:16331000-16337400	Weak transcription	Osteobl	bone
23	chr21:16331000-16337800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:16331000-16338600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:16331000-16338600	Weak transcription	Brain Hippocampus Middle	brain
26	chr21:16331000-16338800	Weak transcription	Colon Smooth Muscle	Colon
27	chr21:16331400-16335600	Weak transcription	HepG2	liver
28	chr21:16331400-16339200	Weak transcription	Brain Substantia Nigra	brain
29	chr21:16331400-16339600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr21:16331600-16335800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr21:16331600-16338000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr21:16331600-16341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr21:16331800-16340200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr21:16332000-16337600	Weak transcription	Liver	Liver
35	chr21:16332200-16338000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr21:16332800-16337200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr21:16333000-16337000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr21:16333200-16335600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr21:16333400-16338600	Weak transcription	Small Intestine	intestine
40	chr21:16333600-16335600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr21:16333800-16337000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr21:16334000-16335600	Weak transcription	Fetal Intestine Large	intestine
43	chr21:16334000-16337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr21:16334000-16338400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr21:16334200-16336400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr21:16334200-16337000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr21:16334200-16337800	Weak transcription	NHEK	skin
48	chr21:16334200-16338200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr21:16334200-16338400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr21:16334400-16337200	Weak transcription	Monocytes-CD14+_RO01746	blood

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