Variant report

Variant	rs11265542
Chromosome Location	chr1:161000046-161000047
allele	A/C/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	CBX3	chr1:160999834-161000131	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160999454..161004323-chr1:161006023..161009248,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232879	TF binding region
ENSG00000270149	Chromatin interaction
ENSG00000215845	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1044478	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1062826	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1062827	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11265540	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11799478	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799521	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801586	0.84[AMR][1000 genomes]
rs11805856	0.83[AMR][1000 genomes]
rs11807930	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12401336	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12405782	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12408778	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12565932	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17388108	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1806774	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2073655	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2073656	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2073658	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2243427	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247459	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2247596	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247671	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247790	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2251597	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251728	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2297219	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2297220	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2297221	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2297222	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2481080	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2481081	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2481083	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2481084	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2481085	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483145	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2774274	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2988726	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3119321	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737785	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3737787	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41267947	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41267949	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41267951	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41269993	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4339888	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55728374	0.89[EUR][1000 genomes]
rs61802231	0.81[AMR][1000 genomes]
rs61803664	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61803665	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61803671	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803672	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712854	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs812741	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs836	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs869985	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160991200-161007800	Weak transcription	HSMMtube	muscle
2	chr1:160991600-161002400	Weak transcription	Ovary	ovary
3	chr1:160991600-161007000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:160991800-161004600	Weak transcription	Primary B cells from cord blood	blood
5	chr1:160991800-161005200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:160991800-161007600	Weak transcription	Thymus	Thymus
7	chr1:160991800-161007800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:160992000-161001600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:160992000-161002200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:160992000-161002200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:160992000-161004600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:160992000-161007000	Weak transcription	Fetal Intestine Small	intestine
13	chr1:160992200-161008000	Weak transcription	HUVEC	blood vessel
14	chr1:160992400-161002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:160992800-161002200	Weak transcription	NHEK	skin
16	chr1:160995600-161002000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:160995600-161002000	Weak transcription	K562	blood
18	chr1:160995600-161002600	Weak transcription	HSMM	muscle
19	chr1:160997200-161008000	Weak transcription	A549	lung
20	chr1:160997400-161001800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:160999600-161004400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:160999800-161000400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:160999800-161000800	Weak transcription	H1 Cell Line	embryonic stem cell

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