Variant report

Variant	rs12200040
Chromosome Location	chr6:121845872-121845873
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12191512	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12195468	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12195627	0.84[CHB][hapmap]
rs12196720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12204055	1.00[AFR][1000 genomes]
rs12212748	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12212833	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12215552	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17083709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58322826	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62427658	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62429961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62429982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv886594	chr6:121837314-122043117	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1847344	chr6:121845356-121875648	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1844166	chr6:121845356-121880939	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121842200-121847400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:121844000-121847400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:121844400-121847000	Weak transcription	Aorta	Aorta
4	chr6:121845000-121847000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:121845000-121847400	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:121845200-121847400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:121845200-121847400	Weak transcription	Ovary	ovary
8	chr6:121845400-121847200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:121845400-121847200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:121845400-121847200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:121845400-121847400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:121845400-121850800	Weak transcription	Osteobl	bone
13	chr6:121845400-121854200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:121845600-121846600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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