Variant report

Variant	rs17117047
Chromosome Location	chr1:98129132-98129133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11810136	1.00[EUR][1000 genomes]
rs1333722	1.00[EUR][1000 genomes]
rs17116923	1.00[EUR][1000 genomes]
rs17116940	1.00[EUR][1000 genomes]
rs17116949	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17116954	1.00[AFR][1000 genomes]
rs17116957	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17116962	1.00[EUR][1000 genomes]
rs35728010	1.00[EUR][1000 genomes]
rs4304628	1.00[EUR][1000 genomes]
rs58211735	1.00[EUR][1000 genomes]
rs6604092	1.00[EUR][1000 genomes]
rs6604119	1.00[EUR][1000 genomes]
rs74105265	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74105274	0.91[AFR][1000 genomes]
rs74105297	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74105460	1.00[EUR][1000 genomes]
rs74107712	1.00[EUR][1000 genomes]
rs74108308	0.85[AFR][1000 genomes]
rs74108405	1.00[EUR][1000 genomes]
rs74108407	1.00[EUR][1000 genomes]
rs7511709	1.00[EUR][1000 genomes]
rs7546038	1.00[EUR][1000 genomes]
rs7553943	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv530049	chr1:97883261-98384614	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830714	chr1:98025090-98229416	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv2010	chr1:98123116-98167426	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98087800-98143600	Weak transcription	Ovary	ovary
2	chr1:98111800-98141800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:98112600-98134600	Weak transcription	HSMM	muscle
4	chr1:98112600-98135800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:98112800-98135400	Weak transcription	Primary B cells from cord blood	blood
6	chr1:98112800-98135600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:98112800-98143800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:98113000-98141800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:98114000-98139600	Weak transcription	Dnd41	blood
10	chr1:98114200-98135400	Weak transcription	Liver	Liver
11	chr1:98114200-98159000	Weak transcription	NHDF-Ad	bronchial
12	chr1:98122600-98135400	Weak transcription	Primary T cells from cord blood	blood
13	chr1:98125400-98134600	Weak transcription	Osteobl	bone
14	chr1:98125600-98159400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:98126400-98135600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:98127000-98143600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:98127000-98152600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:98128400-98129800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:98128600-98129600	Strong transcription	Primary monocytes fromperipheralblood	blood

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