Variant report

Variant	rs74122421
Chromosome Location	chr1:169872176-169872177
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169870889..169872892-chr1:170035958..170038771,2	K562	blood:
2	chr1:169861862..169864358-chr1:169870552..169872385,2	K562	blood:

Variant related genes	Relation type
ENSG00000000457	Chromatin interaction
ENSG00000075945	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10158922	1.00[AMR][1000 genomes]
rs10218486	1.00[AMR][1000 genomes]
rs10919276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919300	1.00[EUR][1000 genomes]
rs12025296	1.00[EUR][1000 genomes]
rs12044536	1.00[EUR][1000 genomes]
rs12066551	1.00[EUR][1000 genomes]
rs12071325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077708	1.00[EUR][1000 genomes]
rs12079608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2103641	1.00[EUR][1000 genomes]
rs2272912	1.00[EUR][1000 genomes]
rs2901261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4279900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56084868	1.00[EUR][1000 genomes]
rs57038529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041439	1.00[EUR][1000 genomes]
rs74121797	1.00[EUR][1000 genomes]
rs74122312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7531947	1.00[EUR][1000 genomes]
rs989054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv1814601	chr1:169782006-169885186	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv1821503	chr1:169782006-169885186	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv1847722	chr1:169782006-169885186	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2757760	chr1:169782006-169885186	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2758976	chr1:169782006-169885186	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv428268	chr1:169782006-169885186	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr1:169870800-169873200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:169871000-169872600	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr1:169871000-169872800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:169871200-169872400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:169871200-169872400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:169871200-169872600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr1:169871200-169872800	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:169871200-169872800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:169871200-169872800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:169871400-169872600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:169871400-169872800	Enhancers	Primary T cells from cord blood	blood
12	chr1:169871400-169873400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:169871400-169873400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:169871600-169872200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr1:169871600-169872600	Enhancers	HUVEC	blood vessel
16	chr1:169871600-169873200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:169871800-169872200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr1:169871800-169872400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
19	chr1:169871800-169872600	Enhancers	Primary B cells from cord blood	blood
20	chr1:169871800-169872600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:169871800-169872600	Enhancers	GM12878-XiMat	blood
22	chr1:169872000-169872200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr1:169872000-169872600	Enhancers	Primary monocytes fromperipheralblood	blood

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