Variant report

Variant	rs73095454
Chromosome Location	chr1:228395637-228395638
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	chr1:228394123-228395642	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:228390067-228395890	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:228395028-228395991	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228351767..228353945-chr1:228395258..228397219,2	MCF-7	breast:
2	chr1:228328826..228331169-chr1:228395338..228396936,2	K562	blood:

Variant related genes	Relation type
OBSCN	TF binding region
ENSG00000203684	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000143774	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55797049	1.00[AMR][1000 genomes]
rs55940470	1.00[AMR][1000 genomes]
rs56756911	0.87[AFR][1000 genomes]
rs56832724	0.87[AFR][1000 genomes]
rs56921575	1.00[AMR][1000 genomes]
rs56986798	0.87[AFR][1000 genomes]
rs57114383	1.00[AMR][1000 genomes]
rs61537173	1.00[AMR][1000 genomes]
rs73092999	0.81[AFR][1000 genomes]
rs73095404	0.81[AFR][1000 genomes]
rs73095424	0.87[AFR][1000 genomes]
rs73095429	0.87[AFR][1000 genomes]
rs73095437	0.87[AFR][1000 genomes]
rs73095449	0.87[AFR][1000 genomes]
rs73095475	1.00[AMR][1000 genomes]
rs73097306	1.00[AMR][1000 genomes]
rs73097318	1.00[AMR][1000 genomes]
rs73099608	1.00[AMR][1000 genomes]
rs73110726	1.00[AMR][1000 genomes]
rs73110739	1.00[AMR][1000 genomes]
rs73110775	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
11	esv1808523	chr1:228359177-228400358	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr1:228392800-228396200	Enhancers	Spleen	Spleen
2	chr1:228392800-228396400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:228392800-228396400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:228393400-228396000	Bivalent Enhancer	Fetal Stomach	stomach
5	chr1:228393400-228397000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:228393800-228395800	Weak transcription	Pancreas	Pancrea
7	chr1:228393800-228396000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:228394000-228396200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:228394200-228397200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:228394600-228400200	Weak transcription	Fetal Lung	lung
11	chr1:228394800-228395800	Enhancers	HSMMtube	muscle
12	chr1:228395000-228395800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:228395000-228396200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:228395000-228398400	Weak transcription	Brain Anterior Caudate	brain
15	chr1:228395200-228395800	Enhancers	Right Atrium	heart
16	chr1:228395200-228396200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:228395400-228396200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr1:228395400-228396200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:228395400-228396400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:228395400-228396400	Flanking Active TSS	Hela-S3	cervix
21	chr1:228395600-228395800	Weak transcription	Psoas Muscle	Psoas
22	chr1:228395600-228395800	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr1:228395600-228395800	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr1:228395600-228396000	Flanking Active TSS	HSMM	muscle
25	chr1:228395600-228396400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr1:228395600-228396600	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr1:228395600-228397200	Active TSS	Fetal Heart	heart
28	chr1:228395600-228397600	Active TSS	Right Ventricle	heart
29	chr1:228395600-228398600	Active TSS	Left Ventricle	heart
30	chr1:228395600-228399400	Weak transcription	Lung	lung
31	chr1:228395600-228400200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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