Variant report

Variant	rs6678151
Chromosome Location	chr1:197811282-197811283
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197806907..197812092-chr1:197812928..197815957,4	K562	blood:
2	chr1:197809186..197812182-chr1:197819659..197821945,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10737694	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10737695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754231	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10754232	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10801624	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12120352	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121863	0.89[AMR][1000 genomes]
rs12141007	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408939	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727812	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17641524	0.85[CHD][hapmap];0.90[JPT][hapmap]
rs17642632	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2221134	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35207123	0.83[AMR][1000 genomes]
rs4512677	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692930	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904576	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1009697	chr1:197804294-197825037	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6678151	RGS21	cis	parietal	SCAN
rs6678151	CFHR3	cis	cerebellum	SCAN
rs6678151	PTPRC	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197808000-197814400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:197808800-197812600	Weak transcription	NHEK	skin
3	chr1:197810400-197811800	Enhancers	Fetal Lung	lung
4	chr1:197810400-197812800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:197810600-197811400	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr1:197810600-197811600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:197810600-197811800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:197810600-197812000	Enhancers	NHDF-Ad	bronchial
9	chr1:197810600-197812000	Enhancers	Osteobl	bone
10	chr1:197810800-197811600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:197810800-197811800	Weak transcription	Colonic Mucosa	Colon
12	chr1:197810800-197814000	Weak transcription	K562	blood
13	chr1:197811000-197811800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:197811200-197811400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:197811200-197811600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr1:197811200-197811600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:197811200-197811600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:197811200-197811600	Enhancers	NHLF	lung
19	chr1:197811200-197811800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:197811200-197812200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:197811200-197812600	Enhancers	Monocytes-CD14+_RO01746	blood

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