Variant report

Variant	rs12074411
Chromosome Location	chr1:228081244-228081245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228072191..228073932-chr1:228079924..228082408,2	K562	blood:
2	chr1:228072172..228075601-chr1:228081221..228085258,4	K562	blood:
3	chr1:228080370..228083162-chr1:228085359..228087553,2	K562	blood:
4	chr1:228077305..228079479-chr1:228079746..228085287,6	K562	blood:
5	chr1:228080541..228083946-chr1:228085322..228089657,5	MCF-7	breast:
6	chr1:228077739..228080091-chr1:228081013..228085287,5	K562	blood:
7	chr1:227920651..227924590-chr1:228080412..228083211,3	MCF-7	breast:
8	chr1:228074799..228078507-chr1:228080222..228082849,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081692	Chromatin interaction
ENSG00000143740	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10799454	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10799456	0.85[EUR][1000 genomes]
rs10799457	0.85[EUR][1000 genomes]
rs10916235	0.89[EUR][1000 genomes]
rs11484724	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12078365	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1573058	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1573059	0.89[EUR][1000 genomes]
rs28376917	0.89[EUR][1000 genomes]
rs28445597	0.89[EUR][1000 genomes]
rs4653525	0.85[EUR][1000 genomes]
rs4653526	0.85[EUR][1000 genomes]
rs4653878	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4653880	0.89[EUR][1000 genomes]
rs4653882	0.89[EUR][1000 genomes]
rs4653883	0.84[EUR][1000 genomes]
rs4653885	0.85[EUR][1000 genomes]
rs4653886	0.85[EUR][1000 genomes]
rs6657894	0.88[EUR][1000 genomes]
rs67645046	0.89[EUR][1000 genomes]
rs72752172	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752178	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752179	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752184	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72752190	0.85[EUR][1000 genomes]
rs7528139	0.84[EUR][1000 genomes]
rs870305	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[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:31 , 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	chr1:228078200-228081400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:228078400-228081800	Enhancers	Fetal Muscle Leg	muscle
7	chr1:228079000-228084600	Enhancers	Placenta	Placenta
8	chr1:228079400-228085400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:228079600-228082000	Enhancers	HSMMtube	muscle
10	chr1:228079600-228084800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:228079600-228085400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:228079800-228082600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:228080000-228082200	Enhancers	K562	blood
14	chr1:228080200-228082000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:228080200-228082000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr1:228080200-228082000	Enhancers	Hela-S3	cervix
17	chr1:228080200-228085000	Enhancers	HMEC	breast
18	chr1:228080400-228082400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:228080400-228083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:228080600-228082600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:228080600-228083400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:228080600-228092800	Weak transcription	Spleen	Spleen
23	chr1:228080600-228094600	Weak transcription	Esophagus	oesophagus
24	chr1:228080800-228081800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:228080800-228083800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:228081000-228083400	Weak transcription	Fetal Heart	heart
27	chr1:228081000-228083600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:228081000-228083800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:228081000-228098200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:228081200-228083800	Weak transcription	Right Ventricle	heart
31	chr1:228081200-228089800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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