Variant report

Variant	rs73104880
Chromosome Location	chr1:228083192-228083193
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228072172..228075601-chr1:228081221..228085258,4	K562	blood:
2	chr1:227920443..227923158-chr1:228082125..228083921,2	K562	blood:
3	chr1:228077305..228079479-chr1:228079746..228085287,6	K562	blood:
4	chr1:228080541..228083946-chr1:228085322..228089657,5	MCF-7	breast:
5	chr1:228077739..228080091-chr1:228081013..228085287,5	K562	blood:
6	chr1:228073337..228075601-chr1:228082510..228084649,2	K562	blood:
7	chr1:227920651..227924590-chr1:228080412..228083211,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143740	Chromatin interaction
ENSG00000081692	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10127974	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10157777	0.95[ASN][1000 genomes]
rs10159181	1.00[AMR][1000 genomes]
rs10159317	0.95[ASN][1000 genomes]
rs12239357	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13373845	0.95[ASN][1000 genomes]
rs2185774	0.90[ASN][1000 genomes]
rs28498342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3795766	1.00[AMR][1000 genomes]
rs4278370	0.95[ASN][1000 genomes]
rs59831966	0.95[ASN][1000 genomes]
rs60574288	0.95[ASN][1000 genomes]
rs61038722	1.00[AMR][1000 genomes]
rs74143718	0.97[ASN][1000 genomes]
rs945700	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS 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	73 gene(s)	inside rSNPs	diseases
2	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
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	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
5	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
8	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	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
10	nsv873250	chr1:228051234-228121548	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv873251	chr1:228051234-228160911	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228074000-228096200	Weak transcription	Gastric	stomach
2	chr1:228075600-228109200	Weak transcription	Right Atrium	heart
3	chr1:228076000-228083400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:228076000-228094600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:228079000-228084600	Enhancers	Placenta	Placenta
6	chr1:228079400-228085400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:228079600-228084800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:228079600-228085400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:228080200-228085000	Enhancers	HMEC	breast
10	chr1:228080400-228083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:228080600-228083400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:228080600-228092800	Weak transcription	Spleen	Spleen
13	chr1:228080600-228094600	Weak transcription	Esophagus	oesophagus
14	chr1:228080800-228083800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:228081000-228083400	Weak transcription	Fetal Heart	heart
16	chr1:228081000-228083600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:228081000-228083800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:228081000-228098200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:228081200-228083800	Weak transcription	Right Ventricle	heart
20	chr1:228081200-228089800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:228081400-228084400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:228081600-228084200	Enhancers	Brain Angular Gyrus	brain
23	chr1:228081800-228083600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:228082000-228083600	Weak transcription	HSMMtube	muscle
25	chr1:228082000-228084400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr1:228082000-228085400	Enhancers	Fetal Muscle Trunk	muscle
27	chr1:228082000-228089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:228082200-228084600	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:228082200-228085400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:228082200-228088200	Weak transcription	K562	blood
31	chr1:228082400-228084800	Enhancers	Brain Hippocampus Middle	brain
32	chr1:228082600-228083400	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:228082600-228083600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:228082600-228084600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:228082600-228084600	Enhancers	Brain Substantia Nigra	brain
36	chr1:228083000-228083400	Enhancers	HepG2	liver
37	chr1:228083000-228083800	Weak transcription	Brain Anterior Caudate	brain

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