Variant report

Variant	rs59860687
Chromosome Location	chr22:33381392-33381393
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	chr22:33376392..33378226-chr22:33378707..33381448,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16991613	1.00[EUR][1000 genomes]
rs58068804	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58893951	1.00[EUR][1000 genomes]
rs58952697	1.00[EUR][1000 genomes]
rs5994644	1.00[EUR][1000 genomes]
rs5998666	1.00[EUR][1000 genomes]
rs5998667	1.00[EUR][1000 genomes]
rs5998673	1.00[EUR][1000 genomes]
rs5998675	1.00[EUR][1000 genomes]
rs61499920	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7284962	1.00[EUR][1000 genomes]
rs7287335	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408532	1.00[EUR][1000 genomes]
rs73408546	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408556	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs734315	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881911	1.00[EUR][1000 genomes]
rs73881913	1.00[EUR][1000 genomes]
rs73881916	1.00[EUR][1000 genomes]
rs8135048	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8135137	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8139676	1.00[EUR][1000 genomes]
rs8139856	1.00[EUR][1000 genomes]
rs8140808	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8140988	1.00[EUR][1000 genomes]
rs8141527	1.00[EUR][1000 genomes]
rs8142539	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33348000-33382400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:33354400-33381800	Weak transcription	Fetal Brain Male	brain
3	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
4	chr22:33368800-33381800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:33374000-33381800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr22:33374600-33381800	Weak transcription	Brain Angular Gyrus	brain
7	chr22:33376200-33381800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:33376200-33381800	Weak transcription	HepG2	liver
9	chr22:33376200-33382400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:33376400-33381800	Weak transcription	Liver	Liver
11	chr22:33376600-33382000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr22:33376800-33381800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr22:33378600-33382000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr22:33378800-33381400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:33380000-33381800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr22:33380200-33382200	Enhancers	Stomach Smooth Muscle	stomach
17	chr22:33380400-33381600	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr22:33380400-33381800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr22:33380400-33383600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr22:33380400-33384000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:33380600-33381600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:33380600-33381600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:33380800-33381400	Enhancers	Colon Smooth Muscle	Colon
24	chr22:33380800-33381600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:33380800-33383200	Enhancers	Fetal Heart	heart
26	chr22:33380800-33389200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:33381000-33382400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:33381000-33382400	Enhancers	Esophagus	oesophagus
29	chr22:33381000-33383600	Enhancers	Fetal Lung	lung
30	chr22:33381000-33383800	Enhancers	Fetal Stomach	stomach
31	chr22:33381000-33385400	Enhancers	NHEK	skin
32	chr22:33381200-33381600	Weak transcription	Right Ventricle	heart
33	chr22:33381200-33382200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:33381200-33382400	Enhancers	Lung	lung
35	chr22:33381200-33382600	Enhancers	Rectal Smooth Muscle	rectum
36	chr22:33381200-33383800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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