Variant report

Variant	rs72966250
Chromosome Location	chr2:100224986-100224987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100224603..100226583-chr2:100228507..100231236,2	MCF-7	breast:
2	chr2:100190593..100193147-chr2:100224653..100226981,2	MCF-7	breast:
3	chr2:100175416..100176270-chr2:100224329..100225222,3	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs59718780	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61173769	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966268	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966270	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966276	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964183	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100211000-100234200	Weak transcription	Thymus	Thymus
2	chr2:100211000-100249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:100215400-100232000	Weak transcription	Lung	lung
4	chr2:100217000-100258400	Weak transcription	Primary T cells from cord blood	blood
5	chr2:100218200-100226400	Weak transcription	Right Atrium	heart
6	chr2:100218200-100229200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:100218200-100241400	Weak transcription	Spleen	Spleen
8	chr2:100219200-100225000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:100222200-100225200	Weak transcription	Osteobl	bone
10	chr2:100222800-100225200	Enhancers	Fetal Brain Male	brain
11	chr2:100224000-100225000	Enhancers	Brain Angular Gyrus	brain
12	chr2:100224000-100225200	Strong transcription	Primary B cells from cord blood	blood
13	chr2:100224000-100225200	Enhancers	Fetal Muscle Leg	muscle
14	chr2:100224000-100225600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:100224200-100225000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:100224200-100225000	Enhancers	Adipose Nuclei	Adipose
17	chr2:100224200-100225000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr2:100224200-100225000	Enhancers	Fetal Brain Female	brain
19	chr2:100224200-100225000	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:100224200-100225000	Enhancers	K562	blood
21	chr2:100224400-100225000	Enhancers	Brain Hippocampus Middle	brain
22	chr2:100224400-100225000	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:100224400-100226400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:100224400-100231600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:100224800-100225200	Enhancers	Aorta	Aorta
26	chr2:100224800-100226400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:100224800-100230400	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:100224800-100230400	Weak transcription	HSMMtube	muscle
29	chr2:100224800-100237800	Weak transcription	Fetal Lung	lung
30	chr2:100224800-100239800	Weak transcription	Right Ventricle	heart

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