Variant report

Variant	rs72980098
Chromosome Location	chr3:133162139-133162140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133157939..133159842-chr3:133161653..133163728,2	MCF-7	breast:
2	chr3:133162011..133163962-chr3:133171581..133174008,3	MCF-7	breast:
3	chr3:133161498..133163430-chr3:133177580..133180492,2	MCF-7	breast:
4	chr3:133161126..133163362-chr3:133716874..133718991,2	MCF-7	breast:
5	chr3:133157614..133159681-chr3:133160592..133163349,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59181710	0.83[ASN][1000 genomes]
rs60903868	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6782406	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982205	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982207	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9814808	0.83[ASN][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	nsv877504	chr3:133122216-133172374	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv522281	chr3:133137434-133167363	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1007047	chr3:133137664-133181388	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1006289	chr3:133137664-133186808	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv819448	chr3:133145453-133165585	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1829199	chr3:133158065-133213047	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133156800-133162600	Weak transcription	Osteobl	bone
2	chr3:133157000-133162400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr3:133157000-133162400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:133157200-133162200	Weak transcription	A549	lung
5	chr3:133158600-133166600	Weak transcription	Liver	Liver
6	chr3:133159000-133166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:133159600-133164400	Enhancers	Primary B cells from peripheral blood	blood
8	chr3:133159800-133162400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:133160800-133163800	Enhancers	Stomach Mucosa	stomach
10	chr3:133161000-133162400	Weak transcription	Brain Anterior Caudate	brain
11	chr3:133161000-133162400	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:133161000-133162400	Weak transcription	Thymus	Thymus
13	chr3:133161000-133162600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:133161000-133163000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:133161000-133163400	Weak transcription	Placenta	Placenta
16	chr3:133161000-133167000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:133161000-133168000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr3:133161000-133191000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:133161200-133162400	Weak transcription	HepG2	liver
20	chr3:133161200-133162600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr3:133161200-133162800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr3:133161200-133166800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:133161400-133162400	Weak transcription	Fetal Thymus	thymus
24	chr3:133161400-133162800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr3:133161400-133166200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:133161400-133166800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:133161400-133166800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:133161600-133162200	Enhancers	GM12878-XiMat	blood
29	chr3:133161600-133162800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:133161600-133162800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:133161600-133163200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr3:133161600-133166800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr3:133161600-133167800	Weak transcription	Primary T cells from cord blood	blood
34	chr3:133161800-133166400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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