Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:212319256..212321258-chr1:212324558..212327324,3	K562	blood:
2	chr1:212290433..212293269-chr1:212324865..212326922,2	K562	blood:
3	chr1:212323808..212327090-chr1:212336876..212338503,3	K562	blood:
4	chr1:212321261..212322830-chr1:212323122..212327254,4	K562	blood:
5	chr1:212324540..212327607-chr1:212329235..212333367,6	K562	blood:
6	chr1:212324486..212328323-chr1:212335764..212338503,4	K562	blood:

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11119855	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119856	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119857	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119858	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119861	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11579154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35941522	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4951438	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951439	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61830778	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7528369	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7545650	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs982091	0.85[ASN][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212309000-212347200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212313400-212325800	Weak transcription	Right Atrium	heart
3	chr1:212313400-212326200	Weak transcription	Colonic Mucosa	Colon
4	chr1:212314400-212332200	Weak transcription	Dnd41	blood
5	chr1:212320400-212332400	Weak transcription	Gastric	stomach
6	chr1:212321200-212325800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:212321200-212326800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:212321200-212330800	Weak transcription	Fetal Thymus	thymus
9	chr1:212321400-212326600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:212323000-212325200	Enhancers	K562	blood
11	chr1:212323400-212325600	Weak transcription	Stomach Mucosa	stomach
12	chr1:212323400-212325800	Weak transcription	Lung	lung
13	chr1:212323600-212325600	Weak transcription	Adipose Nuclei	Adipose
14	chr1:212323600-212335800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:212324200-212325600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:212324200-212327200	Enhancers	Primary hematopoietic stem cells	blood
17	chr1:212324400-212325400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:212324400-212325600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:212324400-212325600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:212324600-212340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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