Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143347061..143349810-chr4:143351941..143353442,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10009855	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10017259	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10017642	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10018876	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11723890	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11726659	0.87[EUR][1000 genomes]
rs12641576	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1353624	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1391093	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1391094	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1497400	0.88[ASN][1000 genomes]
rs17016001	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1908968	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28546779	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28664218	0.86[EUR][1000 genomes]
rs28844598	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4479787	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62328322	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67102237	0.81[EUR][1000 genomes]
rs6828156	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9308150	0.87[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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143329000-143350000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143338600-143348800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:143338600-143366600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:143339000-143355400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:143345200-143351000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:143346000-143351800	Weak transcription	A549	lung
7	chr4:143346400-143353800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:143346600-143350000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:143347200-143348600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:143347600-143348800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:143347600-143350000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:143347800-143348600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:143347800-143348800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:143347800-143349000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:143348000-143348600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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