Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:168237677..168240270-chr2:168240754..168243643,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16853548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16853556	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16853560	1.00[ASN][1000 genomes]
rs16853563	1.00[ASN][1000 genomes]
rs73019802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73021706	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73021707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73021722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73021736	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73021738	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73021750	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73021753	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73021757	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73023863	0.87[ASN][1000 genomes]
rs73023865	0.87[ASN][1000 genomes]
rs73023866	0.87[ASN][1000 genomes]
rs73023867	0.87[ASN][1000 genomes]
rs73023869	0.87[ASN][1000 genomes]
rs73023873	0.87[ASN][1000 genomes]
rs73023883	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv431790	chr2:168217873-168273530	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168236800-168244600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:168236800-168246200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:168237200-168245800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:168237400-168244600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:168237600-168246400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:168238000-168245800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:168238000-168247800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:168240200-168245200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:168240400-168243600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:168241400-168244000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:168241800-168243400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:168241800-168246000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:168242200-168243000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:168242200-168255200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:168242400-168244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:168242400-168244800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:168242600-168242800	Enhancers	Rectal Mucosa Donor 29	rectum

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