Variant report

Variant	rs2057148
Chromosome Location	chr6:45937610-45937611
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10456556	0.80[CHD][hapmap]
rs10484841	0.93[ASW][hapmap];0.81[CEU][hapmap];0.95[LWK][hapmap];0.88[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11755075	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11961195	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1209197	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12209924	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1538331	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1538332	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35958043	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3777601	0.81[CEU][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs4711839	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[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	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv428482	chr6:45926644-46050182	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv885867	chr6:45936223-45982976	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2057148	MRPL14	cis	cerebellum	SCAN
rs2057148	RHAG	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45918800-45938400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:45932600-45937800	Weak transcription	Fetal Intestine Large	intestine
3	chr6:45933600-45941400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr6:45934400-45938600	Enhancers	Right Atrium	heart
5	chr6:45935000-45938400	Weak transcription	Lung	lung
6	chr6:45935200-45937800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:45935800-45938000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:45936000-45941200	Enhancers	Fetal Heart	heart
9	chr6:45936800-45938000	Active TSS	Rectal Smooth Muscle	rectum
10	chr6:45936800-45938600	Enhancers	Left Ventricle	heart
11	chr6:45936800-45938600	Enhancers	Ovary	ovary
12	chr6:45936800-45942000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:45937000-45937800	Weak transcription	Adipose Nuclei	Adipose
14	chr6:45937000-45938200	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr6:45937000-45940000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:45937200-45937800	Enhancers	Small Intestine	intestine
17	chr6:45937200-45938400	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr6:45937400-45938600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:45937400-45938600	Enhancers	Psoas Muscle	Psoas
20	chr6:45937600-45937800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:45937600-45937800	Flanking Active TSS	Colonic Mucosa	Colon
22	chr6:45937600-45938000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr6:45937600-45938000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr6:45937600-45938000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr6:45937600-45938400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:45937600-45938600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:45937600-45938600	Enhancers	Fetal Muscle Leg	muscle
28	chr6:45937600-45938600	Enhancers	Fetal Thymus	thymus
29	chr6:45937600-45938800	Genic enhancers	Fetal Intestine Small	intestine
30	chr6:45937600-45939000	Enhancers	Primary T cells from cord blood	blood
31	chr6:45937600-45939000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr6:45937600-45941600	Enhancers	Right Ventricle	heart

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