Variant report

Variant	rs72982207
Chromosome Location	chr3:133164888-133164889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:133164887-133164890	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr3:133164780-133164930	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133164640..133168534-chr3:133291750..133294077,5	MCF-7	breast:
2	chr3:133162655..133165073-chr3:133302328..133304905,2	MCF-7	breast:

Variant related genes	Relation type
BFSP2	TF binding region
ENSG00000091527	Chromatin interaction

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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6782406	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72980098	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982205	1.00[AFR][1000 genomes];1.00[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133158600-133166600	Weak transcription	Liver	Liver
2	chr3:133159000-133166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:133161000-133167000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:133161000-133168000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:133161000-133191000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:133161200-133166800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:133161400-133166200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:133161400-133166800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:133161400-133166800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:133161600-133166800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:133161600-133167800	Weak transcription	Primary T cells from cord blood	blood
12	chr3:133161800-133166400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr3:133162400-133170400	Enhancers	Fetal Thymus	thymus
14	chr3:133162600-133166800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:133162800-133166400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr3:133162800-133166800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:133162800-133166800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr3:133162800-133166800	Weak transcription	Gastric	stomach
19	chr3:133162800-133166800	Enhancers	GM12878-XiMat	blood
20	chr3:133163200-133166200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr3:133163200-133167400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:133163200-133167600	Weak transcription	Brain Substantia Nigra	brain
23	chr3:133163400-133166000	Weak transcription	Brain Germinal Matrix	brain
24	chr3:133163400-133166600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:133163400-133167600	Weak transcription	HepG2	liver
26	chr3:133163800-133166800	Weak transcription	Stomach Mucosa	stomach
27	chr3:133163800-133169200	Weak transcription	Pancreas	Pancrea
28	chr3:133164000-133167000	Weak transcription	A549	lung
29	chr3:133164200-133167400	Weak transcription	Placenta	Placenta
30	chr3:133164400-133165600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr3:133164400-133166600	Weak transcription	Thymus	Thymus

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