Variant report

Variant	rs72855789
Chromosome Location	chr2:33418829-33418830
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33409906..33412489-chr2:33417595..33419969,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10048782	1.00[AMR][1000 genomes]
rs10166821	1.00[AMR][1000 genomes]
rs10179329	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10184897	1.00[AMR][1000 genomes]
rs10189539	1.00[AMR][1000 genomes]
rs10192129	1.00[AMR][1000 genomes]
rs10192944	1.00[AMR][1000 genomes]
rs10202001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10211394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13398513	1.00[AMR][1000 genomes]
rs13402045	1.00[AMR][1000 genomes]
rs59286165	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6543702	1.00[AMR][1000 genomes]
rs6727534	1.00[AMR][1000 genomes]
rs6729956	1.00[AMR][1000 genomes]
rs6740275	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6742773	1.00[AMR][1000 genomes]
rs6745742	1.00[AMR][1000 genomes]
rs6758391	1.00[AMR][1000 genomes]
rs9308933	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33394000-33420600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:33406400-33419400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:33408000-33422400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:33408200-33423000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:33409200-33441600	Weak transcription	Psoas Muscle	Psoas
7	chr2:33410400-33423800	Weak transcription	Placenta	Placenta
8	chr2:33410400-33438000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:33411600-33421200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:33412200-33420600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:33412400-33419200	Weak transcription	Esophagus	oesophagus
12	chr2:33412400-33421400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:33412800-33419200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:33414000-33427800	Weak transcription	Right Ventricle	heart
15	chr2:33414000-33434200	Weak transcription	HUVEC	blood vessel
16	chr2:33414200-33422400	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:33414600-33422400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
19	chr2:33415000-33434400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:33415200-33427600	Weak transcription	Left Ventricle	heart
21	chr2:33415200-33441600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:33415400-33441600	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:33415600-33427000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:33415600-33431800	Weak transcription	NHDF-Ad	bronchial
25	chr2:33415600-33434200	Weak transcription	K562	blood
26	chr2:33415800-33419200	Weak transcription	Aorta	Aorta
27	chr2:33415800-33431800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:33417000-33421800	Weak transcription	Fetal Heart	heart
29	chr2:33417200-33421000	Strong transcription	Osteobl	bone
30	chr2:33417400-33421000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:33417400-33431800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:33418200-33419600	Strong transcription	NHLF	lung
33	chr2:33418200-33420200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:33418200-33422000	Weak transcription	Liver	Liver
35	chr2:33418200-33433400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:33418400-33420000	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr2:33418400-33420600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:33418400-33435000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:33418600-33419000	Strong transcription	NH-A	brain
40	chr2:33418800-33427000	Weak transcription	Ovary	ovary

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