Variant report

Variant	rs60625077
Chromosome Location	chr1:197651965-197651966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197644483..197647407-chr1:197649632..197652293,2	K562	blood:
2	chr1:197645784..197649649-chr1:197651122..197654150,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16841857	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2208896	1.00[AMR][1000 genomes]
rs55828314	1.00[AMR][1000 genomes]
rs55873850	1.00[AMR][1000 genomes]
rs57319710	1.00[AMR][1000 genomes]
rs57383242	1.00[AMR][1000 genomes]
rs57805974	1.00[AMR][1000 genomes]
rs58603417	1.00[AMR][1000 genomes]
rs58666162	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58959432	1.00[AMR][1000 genomes]
rs59214900	1.00[AMR][1000 genomes]
rs59396394	1.00[AMR][1000 genomes]
rs59498839	1.00[AMR][1000 genomes]
rs60873643	1.00[AMR][1000 genomes]
rs60890417	1.00[AMR][1000 genomes]
rs61374501	1.00[AMR][1000 genomes]
rs74134849	1.00[AMR][1000 genomes]
rs74134857	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134858	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134859	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134862	1.00[AMR][1000 genomes]
rs74134865	1.00[AMR][1000 genomes]
rs74134866	1.00[AMR][1000 genomes]
rs74134867	1.00[AMR][1000 genomes]
rs74134869	1.00[AMR][1000 genomes]
rs74134870	1.00[AMR][1000 genomes]
rs74134873	1.00[AMR][1000 genomes]
rs74134874	1.00[AMR][1000 genomes]
rs74134877	1.00[AMR][1000 genomes]
rs74134878	1.00[AMR][1000 genomes]
rs74137407	1.00[AMR][1000 genomes]
rs74137409	1.00[AMR][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	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv873077	chr1:197615391-197698103	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197640800-197657600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:197644000-197656000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:197645000-197652600	Weak transcription	Left Ventricle	heart
4	chr1:197645200-197661000	Weak transcription	Esophagus	oesophagus
5	chr1:197645400-197655600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:197645600-197657400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:197646400-197652800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:197647200-197657400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:197650000-197654800	Weak transcription	Liver	Liver
10	chr1:197650800-197653600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:197651400-197652400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:197651400-197652400	Weak transcription	Pancreas	Pancrea
13	chr1:197651600-197652000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:197651600-197652000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr1:197651800-197652200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:197651800-197652400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:197651800-197653000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:197651800-197653400	Enhancers	Fetal Lung	lung

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