Variant report

Variant	rs73932727
Chromosome Location	chr19:43068057-43068058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZMIZ1	chr19:43068028-43068133	K562	blood:	n/a	n/a
2	CTCF	chr19:43066858-43069523	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:43068025..43070729-chr19:43097303..43100270,2	MCF-7	breast:

Variant related genes	Relation type
CEACAMP2	TF binding region
CEACAM1	TF binding region
ENSG00000124469	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10518265	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975748	1.00[EUR][1000 genomes]
rs16975813	1.00[EUR][1000 genomes]
rs16975816	1.00[EUR][1000 genomes]
rs16975848	1.00[EUR][1000 genomes]
rs16975958	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1903724	1.00[EUR][1000 genomes]
rs34044249	1.00[EUR][1000 genomes]
rs34097578	1.00[EUR][1000 genomes]
rs34147019	1.00[EUR][1000 genomes]
rs34366776	1.00[EUR][1000 genomes]
rs34381435	1.00[EUR][1000 genomes]
rs34637823	1.00[EUR][1000 genomes]
rs34734442	1.00[EUR][1000 genomes]
rs34760209	1.00[EUR][1000 genomes]
rs34923099	1.00[EUR][1000 genomes]
rs35002034	1.00[EUR][1000 genomes]
rs35038065	1.00[EUR][1000 genomes]
rs35135831	1.00[EUR][1000 genomes]
rs35213872	1.00[EUR][1000 genomes]
rs35266309	1.00[EUR][1000 genomes]
rs35312827	1.00[EUR][1000 genomes]
rs35349390	1.00[EUR][1000 genomes]
rs35544765	1.00[EUR][1000 genomes]
rs35855384	1.00[EUR][1000 genomes]
rs35917849	1.00[EUR][1000 genomes]
rs35969273	1.00[EUR][1000 genomes]
rs3745238	1.00[EUR][1000 genomes]
rs4635443	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55697425	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56271304	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56312460	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57516100	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58405647	1.00[EUR][1000 genomes]
rs58558964	1.00[EUR][1000 genomes]
rs58845793	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59983776	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60389892	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60993923	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61661961	1.00[EUR][1000 genomes]
rs7253354	1.00[EUR][1000 genomes]
rs73932713	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932730	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932732	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932734	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932736	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932737	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932738	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932739	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932741	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932742	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932744	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932746	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932747	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932748	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932750	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932751	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932752	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932754	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932761	1.00[EUR][1000 genomes]
rs73932762	1.00[EUR][1000 genomes]
rs73936020	1.00[EUR][1000 genomes]
rs73936024	1.00[EUR][1000 genomes]
rs73936031	1.00[EUR][1000 genomes]
rs73936032	1.00[EUR][1000 genomes]
rs8105476	1.00[EUR][1000 genomes]
rs8109269	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8110316	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482597	chr19:43037214-43222644	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758501	chr19:43042747-43899053	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2758763	chr19:43042747-43899053	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv428023	chr19:43042747-43899053	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2422227	chr19:43059426-43669485	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv3439256	chr19:43065661-43098816	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3360773	chr19:43065661-43137022	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43064800-43070600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr19:43067200-43069200	Enhancers	Brain Hippocampus Middle	brain
3	chr19:43067400-43071800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr19:43067400-43072000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:43067400-43072000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr19:43067600-43068400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:43067600-43068600	Enhancers	Brain Substantia Nigra	brain
8	chr19:43067600-43071400	Enhancers	Adipose Nuclei	Adipose
9	chr19:43067800-43068400	Enhancers	Brain Angular Gyrus	brain
10	chr19:43067800-43068400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr19:43067800-43068400	Enhancers	Stomach Smooth Muscle	stomach
12	chr19:43067800-43068600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr19:43067800-43068600	Enhancers	Right Atrium	heart
14	chr19:43067800-43069200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr19:43067800-43069800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr19:43067800-43069800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr19:43067800-43070000	Enhancers	Fetal Muscle Leg	muscle
18	chr19:43068000-43068600	Enhancers	Fetal Heart	heart
19	chr19:43068000-43070800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr19:43068000-43071000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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