Variant report

Variant	rs60839216
Chromosome Location	chr1:174123998-174123999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174120725..174126684-chr1:174127143..174130813,8	MCF-7	breast:
2	chr1:174123084..174124650-chr1:174124854..174126776,2	MCF-7	breast:
3	chr1:174122708..174125565-chr1:174154961..174157187,2	K562	blood:

Variant related genes	Relation type
ENSG00000152061	Chromatin interaction
ENSG00000227373	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16846660	1.00[AMR][1000 genomes]
rs16846662	1.00[AMR][1000 genomes]
rs16846681	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846744	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846747	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846840	0.85[AFR][1000 genomes]
rs2095986	0.89[AFR][1000 genomes]
rs41266044	0.83[AFR][1000 genomes]
rs41511350	0.89[AFR][1000 genomes]
rs4518972	0.87[AFR][1000 genomes]
rs58024885	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60141888	0.89[AFR][1000 genomes]
rs61635459	0.85[AFR][1000 genomes]
rs6687429	1.00[AMR][1000 genomes]
rs7339904	0.89[AFR][1000 genomes]
rs7550085	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv465661	chr1:174014507-174152688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv548193	chr1:174014507-174152688	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174120000-174128000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:174121600-174124000	Enhancers	GM12878-XiMat	blood
3	chr1:174122200-174127600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:174122400-174127400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:174122600-174125600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:174122800-174127400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:174122800-174127600	Weak transcription	A549	lung
8	chr1:174123000-174127400	Weak transcription	Primary T cells from cord blood	blood
9	chr1:174123000-174127400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:174123200-174125600	Weak transcription	HMEC	breast
11	chr1:174123200-174126200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:174123200-174126400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:174123200-174127200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:174123200-174127400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:174123200-174127400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:174123200-174127800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:174123400-174125000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:174123400-174125800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:174123400-174126000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:174123400-174126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:174123400-174126000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:174123400-174126000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:174123400-174126000	Weak transcription	NHEK	skin
24	chr1:174123400-174126200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:174123600-174125000	Weak transcription	Hela-S3	cervix
26	chr1:174123600-174125000	Weak transcription	K562	blood
27	chr1:174123600-174127400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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