Variant report

Variant	rs10424206
Chromosome Location	chr19:43068514-43068515
allele	A/G
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	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:
2	chr19:43068393..43071134-chr19:43075524..43077066,2	MCF-7	breast:

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

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10401178	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10401428	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10403065	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10404589	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10405037	1.00[EUR][1000 genomes]
rs10405152	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes]
rs10405410	1.00[CEU][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405942	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10412074	1.00[EUR][1000 genomes]
rs10412594	1.00[EUR][1000 genomes]
rs10415284	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10416108	1.00[CEU][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418997	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10419543	1.00[EUR][1000 genomes]
rs10419561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10420773	1.00[EUR][1000 genomes]
rs10422191	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423370	1.00[EUR][1000 genomes]
rs10425119	1.00[CEU][hapmap]
rs10425199	1.00[EUR][1000 genomes]
rs10425666	1.00[EUR][1000 genomes]
rs10426304	1.00[EUR][1000 genomes]
rs11878991	1.00[CEU][hapmap]
rs11879033	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11880554	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs11880876	1.00[EUR][1000 genomes]
rs11881583	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs11882225	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882701	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11883425	1.00[CEU][hapmap]
rs13343840	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13345272	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13346522	1.00[EUR][1000 genomes]
rs16975799	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16975862	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2051832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2051833	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28425201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28473486	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28588100	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28602626	1.00[EUR][1000 genomes]
rs28625452	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs28635141	1.00[EUR][1000 genomes]
rs28660279	1.00[EUR][1000 genomes]
rs41348545	1.00[EUR][1000 genomes]
rs41381546	1.00[EUR][1000 genomes]
rs41421250	1.00[EUR][1000 genomes]
rs60747186	0.83[EUR][1000 genomes]
rs61388144	1.00[EUR][1000 genomes]
rs6509015	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs6509019	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246161	1.00[CEU][hapmap]
rs7246591	1.00[CEU][hapmap]
rs7247278	1.00[CEU][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs7250501	1.00[EUR][1000 genomes]
rs7252874	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7253634	1.00[EUR][1000 genomes]
rs7255271	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7256226	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7256850	1.00[EUR][1000 genomes]
rs7258854	1.00[CEU][hapmap]
rs7259335	1.00[EUR][1000 genomes]
rs73558492	1.00[EUR][1000 genomes]
rs73558498	1.00[EUR][1000 genomes]
rs73560408	1.00[EUR][1000 genomes]
rs8104731	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8105525	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs8106836	1.00[EUR][1000 genomes]
rs8108992	1.00[EUR][1000 genomes]
rs8110904	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs8111171	1.00[EUR][1000 genomes]
rs8112593	1.00[EUR][1000 genomes]
rs8112915	1.00[EUR][1000 genomes]
rs8113154	1.00[EUR][1000 genomes]
rs8113448	1.00[EUR][1000 genomes]
rs9749434	1.00[EUR][1000 genomes]
rs9917002	0.80[AFR][1000 genomes];0.93[AMR][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	chr19:43067600-43068600	Enhancers	Brain Substantia Nigra	brain
7	chr19:43067600-43071400	Enhancers	Adipose Nuclei	Adipose
8	chr19:43067800-43068600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr19:43067800-43068600	Enhancers	Right Atrium	heart
10	chr19:43067800-43069200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr19:43067800-43069800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr19:43067800-43069800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr19:43067800-43070000	Enhancers	Fetal Muscle Leg	muscle
14	chr19:43068000-43068600	Enhancers	Fetal Heart	heart
15	chr19:43068000-43070800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr19:43068000-43071000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:43068200-43068600	Enhancers	Right Ventricle	heart
18	chr19:43068200-43068800	Enhancers	Left Ventricle	heart
19	chr19:43068200-43069000	Enhancers	HSMMtube	muscle
20	chr19:43068200-43069200	Enhancers	Fetal Muscle Trunk	muscle

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