Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:143691660..143693819-chr3:143749390..143751608,2	K562	blood:
2	chr3:143695787..143698743-chr3:143748690..143750623,2	K562	blood:
3	chr3:143689173..143691180-chr3:143749985..143751944,2	K562	blood:
4	chr3:143749383..143753486-chr3:143754675..143758635,4	K562	blood:

Variant related genes	Relation type
ENSG00000181744	Chromatin interaction

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

rs_ID	r²[population]
rs10513236	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11915876	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11929030	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55766595	1.00[ASN][1000 genomes]
rs55848985	1.00[ASN][1000 genomes]
rs55850911	1.00[ASN][1000 genomes]
rs56087620	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56153797	1.00[ASN][1000 genomes]
rs56203852	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57585973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73874106	0.92[AFR][1000 genomes]
rs73874107	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73874109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73874112	1.00[AFR][1000 genomes]
rs7614693	1.00[ASN][1000 genomes]
rs7616037	1.00[ASN][1000 genomes]
rs7619502	0.92[AFR][1000 genomes]
rs7622738	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623777	0.92[AFR][1000 genomes]
rs7650841	0.95[EUR][1000 genomes];1.00[ASN][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	nsv877568	chr3:143621140-143992630	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3365190	chr3:143642195-143925886	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv591922	chr3:143645242-143825439	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr3:143747600-143750800	Weak transcription	Ovary	ovary
2	chr3:143748400-143750200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:143748600-143751600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr3:143748800-143750200	Weak transcription	Brain Substantia Nigra	brain
5	chr3:143748800-143750400	Enhancers	Brain Anterior Caudate	brain
6	chr3:143749200-143750200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:143749200-143750800	Weak transcription	Brain Angular Gyrus	brain
8	chr3:143749800-143750200	Enhancers	Brain Hippocampus Middle	brain
9	chr3:143749800-143750400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:143749800-143750800	Enhancers	GM12878-XiMat	blood
11	chr3:143750000-143750200	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:143750000-143750400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:143750000-143750600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:143750000-143751000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:143750000-143754200	Enhancers	Cortex derived primary cultured neurospheres	brain

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