Variant report

Variant	rs57664780
Chromosome Location	chr1:174172397-174172398
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	SETDB1	chr1:174172317-174172997	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174169989..174171765-chr1:174171980..174175775,3	K562	blood:

Variant related genes	Relation type
ENSG00000238872	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs16846832	1.00[AMR][1000 genomes]
rs57160755	0.86[AFR][1000 genomes]
rs57265137	1.00[AMR][1000 genomes]
rs57387965	1.00[AMR][1000 genomes]
rs58576036	1.00[AMR][1000 genomes]
rs58735809	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59355797	1.00[AMR][1000 genomes]
rs59466931	1.00[AMR][1000 genomes]
rs59846661	1.00[AMR][1000 genomes]
rs61628461	1.00[AFR][1000 genomes]
rs6658347	0.90[AFR][1000 genomes]
rs6667627	1.00[AMR][1000 genomes]
rs73025612	1.00[AMR][1000 genomes]
rs73025620	1.00[AMR][1000 genomes]
rs73027407	1.00[AMR][1000 genomes]
rs73027443	1.00[AMR][1000 genomes]
rs73027460	1.00[AMR][1000 genomes]
rs73027463	1.00[AMR][1000 genomes]
rs73027464	1.00[AMR][1000 genomes]
rs73027488	1.00[AMR][1000 genomes]
rs73029110	0.86[AFR][1000 genomes]
rs73032703	0.86[AFR][1000 genomes]
rs73032717	0.86[AFR][1000 genomes]
rs73036625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036635	1.00[AMR][1000 genomes]
rs73036645	1.00[AMR][1000 genomes]
rs73036652	1.00[AMR][1000 genomes]
rs73036657	1.00[AMR][1000 genomes]
rs73036677	1.00[AMR][1000 genomes]
rs73038644	1.00[AMR][1000 genomes]
rs73038658	1.00[AMR][1000 genomes]
rs73038662	1.00[AMR][1000 genomes]
rs73038669	1.00[AMR][1000 genomes]
rs73038679	1.00[AMR][1000 genomes]
rs73038685	1.00[AMR][1000 genomes]
rs73038687	1.00[AMR][1000 genomes]
rs73041050	1.00[AMR][1000 genomes]
rs73041059	1.00[AMR][1000 genomes]
rs7531236	1.00[AMR][1000 genomes]
rs7534626	0.93[AFR][1000 genomes]
rs7547873	1.00[AMR][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	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174129600-174173200	Weak transcription	Pancreas	Pancrea
2	chr1:174144000-174178200	Weak transcription	Left Ventricle	heart
3	chr1:174154200-174173600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:174160000-174173600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:174160600-174173800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:174160800-174186600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:174161000-174172400	Weak transcription	Fetal Intestine Large	intestine
8	chr1:174161000-174173600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:174161000-174176200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:174161200-174176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:174161600-174175000	Weak transcription	NHDF-Ad	bronchial
12	chr1:174161600-174178600	Weak transcription	Primary B cells from cord blood	blood
13	chr1:174161800-174173800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:174162000-174173800	Weak transcription	Hela-S3	cervix
15	chr1:174162000-174189600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:174163800-174178200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:174164000-174173000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:174164000-174173000	Weak transcription	K562	blood
19	chr1:174164000-174173800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:174167200-174178400	Weak transcription	Fetal Stomach	stomach
21	chr1:174167400-174175000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:174169200-174173400	Weak transcription	Fetal Heart	heart
23	chr1:174170200-174172800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:174170200-174173600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:174170600-174173400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:174170600-174173600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:174170600-174173800	Weak transcription	Dnd41	blood
28	chr1:174170800-174173000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:174170800-174178000	Weak transcription	Fetal Intestine Small	intestine
30	chr1:174172200-174172600	ZNF genes & repeats	Primary T cells from cord blood	blood
31	chr1:174172200-174172800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:174172200-174179800	ZNF genes & repeats	GM12878-XiMat	blood

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