Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:180868023..180870697-chr1:180871039..180876030,6	K562	blood:
2	chr1:180869114..180871088-chr1:181108466..181111253,2	MCF-7	breast:
3	chr1:180857763..180859865-chr1:180868905..180871208,2	K562	blood:
4	chr1:180869758..180871687-chr1:180953486..180955984,2	MCF-7	breast:
5	chr1:180869131..180871250-chr1:180872098..180874284,2	MCF-7	breast:
6	chr1:180868533..180870624-chr1:180874498..180876030,2	K562	blood:

Variant related genes	Relation type
ENSG00000225857	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10914089	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10914110	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10914126	1.00[YRI][hapmap]
rs12064145	1.00[EUR][1000 genomes]
rs12080368	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12087860	1.00[EUR][1000 genomes]
rs12088166	1.00[EUR][1000 genomes]
rs12094045	1.00[EUR][1000 genomes]
rs58972035	1.00[EUR][1000 genomes]
rs6659019	1.00[EUR][1000 genomes]
rs6662788	1.00[EUR][1000 genomes]
rs73034866	1.00[EUR][1000 genomes]
rs73036531	1.00[EUR][1000 genomes]
rs73036535	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036573	1.00[EUR][1000 genomes]
rs73040986	1.00[EUR][1000 genomes]
rs73047764	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73047767	1.00[EUR][1000 genomes]
rs7355147	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7512811	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7524525	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7550861	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180805800-180881000	Weak transcription	Aorta	Aorta
2	chr1:180824000-180880800	Weak transcription	Right Ventricle	heart
3	chr1:180844200-180872200	Weak transcription	Esophagus	oesophagus
4	chr1:180847400-180875400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:180858400-180870600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:180861200-180880800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:180868000-180870600	Weak transcription	Brain Germinal Matrix	brain
8	chr1:180868000-180878600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:180868400-180878400	Weak transcription	Fetal Lung	lung
10	chr1:180868800-180879400	Weak transcription	Fetal Stomach	stomach
11	chr1:180868800-180880400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:180868800-180881000	Weak transcription	Right Atrium	heart
13	chr1:180869200-180877400	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:180869400-180875800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:180869600-180881000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:180869800-180880800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:180870200-180870600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:180870400-180870600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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