Variant report

Variant	rs12404412
Chromosome Location	chr1:46945749-46945750
allele	C/T
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

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:46941803..46948881-chr1:46990723..46995697,8	K562	blood:
2	chr1:46945298..46948604-chr1:46953497..46956097,3	K562	blood:
3	chr1:46945406..46947709-chr1:46983667..46986357,2	K562	blood:
4	chr1:46945158..46947709-chr1:46983421..46985167,2	K562	blood:
5	chr1:46945269..46946167-chr1:46993663..46994349,2	K562	blood:
6	chr1:46945138..46947370-chr1:46988064..46989764,2	K562	blood:
7	chr1:46943291..46946186-chr1:46950326..46954101,3	K562	blood:
8	chr1:46943126..46948119-chr1:46990723..46995697,9	K562	blood:

No data

No data

No data

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12071150	1.00[EUR][1000 genomes]
rs12401610	0.83[EUR][1000 genomes]
rs12405092	1.00[EUR][1000 genomes]
rs12408134	0.84[AMR][1000 genomes]
rs12409988	0.91[AMR][1000 genomes]
rs12410308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563793	0.83[EUR][1000 genomes]
rs57465129	0.84[AMR][1000 genomes]
rs59509625	0.84[AMR][1000 genomes]
rs60590186	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6677677	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic 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 target site	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv534951	chr1:46910546-46948727	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers 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 target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46933200-46949800	Weak transcription	Pancreas	Pancrea
2	chr1:46933200-46955000	Weak transcription	Right Atrium	heart
3	chr1:46942800-46946600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:46943800-46947000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:46944000-46946000	Weak transcription	K562	blood
6	chr1:46944400-46947000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:46945000-46946200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:46945200-46946000	Bivalent Enhancer	HepG2	liver
9	chr1:46945200-46946200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr1:46945200-46947000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr1:46945400-46946000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:46945400-46946000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr1:46945400-46946200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr1:46945400-46947200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr1:46945400-46947200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr1:46945400-46947400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:46945600-46945800	Bivalent Enhancer	Placenta	Placenta
18	chr1:46945600-46946000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr1:46945600-46946000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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