Variant report

Variant	rs6691195
Chromosome Location	chr1:222162373-222162374
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221889093..221891683-chr1:222160866..222163448,2	K562	blood:
2	chr1:222154687..222157582-chr1:222159265..222162751,4	K562	blood:
3	chr1:222154687..222156837-chr1:222159870..222162751,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10218478	0.82[EUR][1000 genomes]
rs11118926	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12022676	0.91[ASN][1000 genomes]
rs12024555	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12025565	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12029332	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12032653	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12032715	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12033415	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121134	0.92[EUR][1000 genomes]
rs12123928	0.80[EUR][1000 genomes]
rs12124556	0.81[EUR][1000 genomes]
rs12125368	0.91[EUR][1000 genomes]
rs12125383	0.97[EUR][1000 genomes]
rs12129860	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12135286	0.84[EUR][1000 genomes]
rs12137323	0.81[EUR][1000 genomes]
rs12140604	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12731064	0.92[EUR][1000 genomes]
rs12739936	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17011141	0.81[EUR][1000 genomes]
rs17011146	0.81[EUR][1000 genomes]
rs17011182	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011200	0.92[EUR][1000 genomes]
rs17442058	0.94[EUR][1000 genomes]
rs17442323	0.92[EUR][1000 genomes]
rs17495159	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2095928	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35212520	0.92[EUR][1000 genomes]
rs35718308	0.85[EUR][1000 genomes]
rs35805428	0.92[EUR][1000 genomes]
rs56170536	0.91[EUR][1000 genomes]
rs66732677	0.91[EUR][1000 genomes]
rs6687758	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72740077	0.81[EUR][1000 genomes]
rs7520544	0.81[EUR][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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6691195	RP11-400N13.2	cis	lung	GTEx
rs6691195	RP11-815M8.1	cis	lung	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222146200-222163800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:222153200-222163800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:222156600-222166000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:222159600-222162800	Enhancers	HSMMtube	muscle
5	chr1:222159600-222169400	Enhancers	HMEC	breast
6	chr1:222160400-222162400	Enhancers	K562	blood
7	chr1:222160400-222162800	Genic enhancers	HSMM	muscle
8	chr1:222160400-222165400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:222160400-222165800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:222161000-222165200	Enhancers	NHLF	lung
11	chr1:222161000-222165400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:222161200-222163800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:222161400-222163800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:222161600-222163000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:222161600-222164400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:222161600-222167000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:222161800-222163000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:222161800-222163200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:222161800-222163200	Weak transcription	Hela-S3	cervix
20	chr1:222161800-222164200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:222162000-222163200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:222162000-222163400	Weak transcription	NHDF-Ad	bronchial
23	chr1:222162000-222163600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:222162000-222163800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:222162000-222164400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:222162000-222164400	Weak transcription	NH-A	brain
27	chr1:222162000-222167600	Weak transcription	Brain Substantia Nigra	brain
28	chr1:222162200-222162600	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:222162200-222162600	Weak transcription	Osteobl	bone
30	chr1:222162200-222163800	Weak transcription	NHEK	skin
31	chr1:222162200-222165600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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