Variant report

Variant	rs4926400
Chromosome Location	chr1:149931541-149931542
allele	A/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149856706..149863317-chr1:149930609..149936203,18	K562	blood:
2	chr1:149930117..149931822-chr1:149933586..149935763,2	K562	blood:
3	chr1:149931408..149935324-chr1:150013770..150016857,4	K562	blood:
4	chr1:149857115..149861650-chr1:149931288..149935983,8	K562	blood:
5	chr1:149906839..149912416-chr1:149930712..149937411,6	K562	blood:
6	chr1:149855178..149861916-chr1:149928782..149939792,19	MCF-7	breast:
7	chr1:149899949..149901811-chr1:149931355..149934689,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184270	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000178096	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10494260	1.00[ASW][hapmap];0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11205309	0.88[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs11205310	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12022928	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs12023231	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes]
rs12023748	0.96[ASN][1000 genomes]
rs12026500	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12082689	0.87[ASN][1000 genomes]
rs12409885	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes]
rs17581597	0.81[MEX][hapmap]
rs1868992	0.88[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap]
rs3738320	0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3767627	1.00[ASW][hapmap];0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3767628	0.88[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs3936952	0.88[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs4926386	0.92[GIH][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap]
rs6660842	0.91[ASN][1000 genomes]
rs72692821	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72692823	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7551741	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4926400	MRPS21	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149909400-149947000	Weak transcription	Fetal Brain Male	brain
2	chr1:149910000-149934200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:149911400-149933800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:149912600-149941600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:149912800-149933800	Weak transcription	Stomach Mucosa	stomach
6	chr1:149914400-149937400	Weak transcription	Fetal Heart	heart
7	chr1:149915000-149937600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:149921200-149942600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:149922200-149935800	Weak transcription	Pancreas	Pancrea
10	chr1:149922200-149936000	Weak transcription	Thymus	Thymus
11	chr1:149922200-149937400	Weak transcription	Colonic Mucosa	Colon
12	chr1:149922200-149937600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:149922400-149934400	Weak transcription	Psoas Muscle	Psoas
14	chr1:149922400-149951600	Weak transcription	Small Intestine	intestine
15	chr1:149927400-149934000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:149928200-149934400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:149928400-149932200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:149928400-149933800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:149928400-149934200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:149928400-149934200	Strong transcription	Adipose Nuclei	Adipose
21	chr1:149928800-149932000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr1:149929000-149932000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:149929000-149934200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:149929200-149931800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:149929200-149931800	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr1:149929200-149932200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:149929400-149931800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr1:149929400-149932000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr1:149929400-149932000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:149929400-149932000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:149929400-149932000	Strong transcription	Right Ventricle	heart
32	chr1:149929400-149932000	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:149929400-149932200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr1:149929400-149932200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr1:149929400-149932200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr1:149929400-149932200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr1:149929400-149932200	Strong transcription	Liver	Liver
38	chr1:149929400-149932200	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr1:149929400-149932200	Strong transcription	Brain Substantia Nigra	brain
40	chr1:149929400-149933600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:149929400-149933800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:149929400-149933800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr1:149929400-149934200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:149929400-149940000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:149929400-149948400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr1:149929600-149931800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:149929600-149931800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:149929600-149931800	Strong transcription	Brain Angular Gyrus	brain
49	chr1:149929600-149932000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:149929600-149932200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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