Variant report

Variant	rs73874109
Chromosome Location	chr3:143751454-143751455
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000181744	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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]
rs73874108	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:5 , 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
4	nsv1010117	chr3:143750590-144093775	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv536748	chr3:143750590-144093775	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143748600-143751600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr3:143750000-143754200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:143750200-143753600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:143750400-143751800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:143750400-143752600	Enhancers	Colon Smooth Muscle	Colon
6	chr3:143750400-143753200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:143750800-143751600	Active TSS	Brain Angular Gyrus	brain
8	chr3:143750800-143751800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:143750800-143751800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:143750800-143751800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:143750800-143751800	Active TSS	Osteobl	bone
12	chr3:143750800-143752000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:143750800-143752600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:143750800-143752600	Flanking Active TSS	GM12878-XiMat	blood
15	chr3:143750800-143752800	Enhancers	Rectal Smooth Muscle	rectum
16	chr3:143750800-143753200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:143750800-143753200	Enhancers	Ovary	ovary
18	chr3:143750800-143755200	Enhancers	Brain Anterior Caudate	brain
19	chr3:143751000-143751600	Active TSS	Liver	Liver
20	chr3:143751000-143751600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:143751000-143753600	Enhancers	Brain Hippocampus Middle	brain
22	chr3:143751000-143754600	Enhancers	Brain Cingulate Gyrus	brain
23	chr3:143751200-143751800	Active TSS	NHLF	lung
24	chr3:143751200-143754600	Enhancers	Brain Substantia Nigra	brain
25	chr3:143751400-143751800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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