Variant report

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197828498..197830779-chr1:197836162..197838765,2	K562	blood:
2	chr1:197488575..197489479-chr1:197837963..197838594,2	K562	blood:
3	chr1:197583975..197584970-chr1:197837652..197838487,2	MCF-7	breast:
4	chr1:197743887..197745758-chr1:197837447..197840153,2	MCF-7	breast:
5	chr1:197495628..197496506-chr1:197838136..197838755,2	K562	blood:
6	chr1:197837087..197838981-chr1:197871128..197873334,2	K562	blood:
7	chr1:197838071..197840824-chr1:197843798..197845693,2	MCF-7	breast:
8	chr1:197661807..197662710-chr1:197837857..197838661,5	MCF-7	breast:
9	chr1:197584116..197584704-chr1:197837725..197838549,2	K562	blood:
10	chr1:197661828..197662611-chr1:197837848..197838634,2	MCF-7	breast:
11	chr1:197490113..197490959-chr1:197837878..197838660,2	K562	blood:
12	chr1:197588307..197588845-chr1:197837719..197838502,3	MCF-7	breast:
13	chr1:197588330..197588863-chr1:197837795..197838473,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000203724	Chromatin interaction
ENSG00000213047	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1039287	0.87[EUR][1000 genomes]
rs1039288	0.87[EUR][1000 genomes]
rs10494761	0.86[AMR][1000 genomes]
rs10801621	0.86[AMR][1000 genomes]
rs10922308	0.93[EUR][1000 genomes]
rs10922309	0.95[EUR][1000 genomes]
rs10922310	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10922311	0.95[EUR][1000 genomes]
rs10922312	1.00[EUR][1000 genomes]
rs10922314	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11800139	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12062450	1.00[EUR][1000 genomes]
rs12079329	1.00[AMR][1000 genomes]
rs12079525	1.00[EUR][1000 genomes]
rs16842055	0.95[EUR][1000 genomes]
rs17567921	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17641842	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs2047540	0.96[EUR][1000 genomes]
rs2047541	1.00[EUR][1000 genomes]
rs2358488	1.00[AMR][1000 genomes]
rs6661330	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs6685897	1.00[AMR][1000 genomes]
rs74137403	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74137406	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs74137408	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7415533	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999662	chr1:197821769-197892803	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	esv2762214	chr1:197821769-197897496	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	nsv1004130	chr1:197822757-197879728	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197837800-197838600	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr1:197837800-197839000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:197838000-197838600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:197838200-197838600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:197838400-197839000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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