Variant report

Variant	rs41275368
Chromosome Location	chr1:211855135-211855136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:211853820-211855458	A549	lung:	n/a	chr1:211854225-211854233 chr1:211854222-211854243
2	RELA	chr1:211854048-211855137	GM12891	blood:	n/a	chr1:211854303-211854312 chr1:211854303-211854312
3	MAX	chr1:211855047-211855342	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000231057	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11119794	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12074002	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1373292	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1822569	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2794731	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4511185	0.82[EUR][1000 genomes]
rs57370308	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60293324	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661565	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs701917	0.94[ASN][1000 genomes]
rs701926	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	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211850000-211856600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:211850000-211857200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:211850000-211857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:211853400-211856400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:211853800-211855600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:211853800-211855600	Enhancers	HepG2	liver
7	chr1:211854000-211855200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:211854000-211855200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:211854000-211855200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:211854000-211855200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:211854000-211855400	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:211854000-211855400	Enhancers	Primary T cells from cord blood	blood
13	chr1:211854200-211855200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:211854400-211855200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:211854400-211855200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr1:211854400-211855200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:211854400-211855200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:211854400-211855400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:211854400-211855400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:211854400-211855600	Enhancers	Primary B cells from cord blood	blood
21	chr1:211854400-211856200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:211854800-211855200	Enhancers	GM12878-XiMat	blood

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