Variant report

Variant	rs9819218
Chromosome Location	chr3:119449165-119449166
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119421793..119424164-chr3:119448930..119450686,2	MCF-7	breast:
2	chr3:119440802..119443470-chr3:119448061..119449825,2	K562	blood:

Variant related genes	Relation type
ENSG00000183833	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs13316467	1.00[AFR][1000 genomes]
rs13316524	1.00[AFR][1000 genomes]
rs13318819	0.85[AFR][1000 genomes]
rs28370398	1.00[AFR][1000 genomes]
rs28415065	1.00[AFR][1000 genomes]
rs28464044	1.00[AFR][1000 genomes]
rs28484588	1.00[AFR][1000 genomes]
rs28595123	1.00[AFR][1000 genomes]
rs28678836	1.00[AFR][1000 genomes]
rs6795467	1.00[AFR][1000 genomes]
rs7617259	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7618191	0.90[AFR][1000 genomes]
rs9289133	1.00[AFR][1000 genomes]
rs9809148	0.86[AFR][1000 genomes]
rs9810454	1.00[AFR][1000 genomes]
rs9811271	1.00[AFR][1000 genomes]
rs9813490	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs9814138	1.00[AFR][1000 genomes]
rs9815987	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9817771	1.00[AFR][1000 genomes]
rs9820811	1.00[AFR][1000 genomes]
rs9824097	1.00[AFR][1000 genomes]
rs9834015	0.90[AFR][1000 genomes]
rs9835381	1.00[AFR][1000 genomes]
rs9837808	1.00[AFR][1000 genomes]
rs9842101	1.00[AFR][1000 genomes]
rs9844223	0.90[AFR][1000 genomes]
rs9844543	0.90[AFR][1000 genomes]
rs9847782	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs9851058	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9853426	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9856637	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9858328	1.00[AFR][1000 genomes]
rs9859568	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs9860171	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9864160	0.95[AFR][1000 genomes]
rs9865259	1.00[AFR][1000 genomes]
rs9866905	1.00[AFR][1000 genomes]
rs9870607	1.00[AFR][1000 genomes]
rs9875512	1.00[AFR][1000 genomes]
rs9881432	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460834	chr3:119384163-119458851	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv591390	chr3:119384163-119458851	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr3:119422200-119458200	Weak transcription	Aorta	Aorta
2	chr3:119423000-119463000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:119423000-119464400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:119423200-119464200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:119423200-119471600	Weak transcription	Fetal Kidney	kidney
6	chr3:119423400-119458200	Weak transcription	Brain Substantia Nigra	brain
7	chr3:119428800-119469200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:119431200-119470400	Weak transcription	Gastric	stomach
9	chr3:119435400-119478200	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:119436800-119450200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:119436800-119450600	Weak transcription	Brain Anterior Caudate	brain
12	chr3:119436800-119462800	Weak transcription	Pancreas	Pancrea
13	chr3:119438200-119449200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:119444000-119453000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:119447800-119450400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:119448400-119449800	Enhancers	Fetal Brain Male	brain
17	chr3:119448800-119450400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:119449000-119449200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:119449000-119450400	Weak transcription	Fetal Brain Female	brain
20	chr3:119449000-119450600	Weak transcription	Ovary	ovary

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