Variant report

Variant	rs72985834
Chromosome Location	chr2:133391454-133391455
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	chr2:133389250..133392013-chr2:133427739..133429260,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150551	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10167716	1.00[EUR][1000 genomes]
rs10171205	1.00[EUR][1000 genomes]
rs13385904	1.00[EUR][1000 genomes]
rs13386467	1.00[EUR][1000 genomes]
rs13386584	1.00[EUR][1000 genomes]
rs13394934	1.00[EUR][1000 genomes]
rs1430628	1.00[EUR][1000 genomes]
rs16837976	1.00[EUR][1000 genomes]
rs16837995	1.00[EUR][1000 genomes]
rs16839523	1.00[EUR][1000 genomes]
rs56069383	1.00[EUR][1000 genomes]
rs57213001	1.00[EUR][1000 genomes]
rs57536045	1.00[EUR][1000 genomes]
rs59250098	1.00[EUR][1000 genomes]
rs59316981	1.00[EUR][1000 genomes]
rs60583538	1.00[EUR][1000 genomes]
rs61399327	1.00[EUR][1000 genomes]
rs7560280	1.00[EUR][1000 genomes]
rs7587261	1.00[EUR][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	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1014306	chr2:133252736-133402581	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535925	chr2:133252736-133402581	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv583155	chr2:133253386-133415170	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133379400-133395800	Weak transcription	Gastric	stomach
2	chr2:133387800-133392800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:133388600-133391600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:133389400-133391800	Enhancers	Stomach Smooth Muscle	stomach
5	chr2:133389400-133403200	Weak transcription	Brain Anterior Caudate	brain
6	chr2:133389800-133393800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:133390000-133401000	Weak transcription	NH-A	brain
8	chr2:133390000-133403200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:133390200-133393800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:133390200-133393800	Weak transcription	HSMMtube	muscle
11	chr2:133390200-133394800	Weak transcription	Stomach Mucosa	stomach
12	chr2:133390200-133395800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:133390200-133403200	Weak transcription	Esophagus	oesophagus
14	chr2:133390200-133412600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:133390400-133393600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:133390400-133395600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:133390400-133402000	Weak transcription	Fetal Kidney	kidney
18	chr2:133390400-133413800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:133390400-133423800	Weak transcription	A549	lung
20	chr2:133390600-133393600	Weak transcription	Fetal Stomach	stomach
21	chr2:133390600-133398800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:133390800-133393400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:133390800-133393600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:133390800-133393800	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:133390800-133395800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:133390800-133402800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:133390800-133405400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:133391000-133393800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:133391200-133393400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:133391200-133393400	Weak transcription	Liver	Liver
31	chr2:133391200-133399400	Weak transcription	Fetal Intestine Small	intestine
32	chr2:133391400-133391600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
33	chr2:133391400-133391600	Enhancers	Pancreas	Pancrea

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