Variant report

Variant	rs74072235
Chromosome Location	chr1:45787186-45787187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45787017..45789450-chr1:45790302..45793910,3	K562	blood:
2	chr1:45767853..45771862-chr1:45786144..45789985,4	K562	blood:

Variant related genes	Relation type
ENSG00000186603	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28472700	1.00[AMR][1000 genomes]
rs55786026	1.00[AMR][1000 genomes]
rs56015816	1.00[AMR][1000 genomes]
rs56328440	1.00[AMR][1000 genomes]
rs56359961	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59831088	1.00[AMR][1000 genomes]
rs6686117	1.00[EUR][1000 genomes]
rs6692066	1.00[AMR][1000 genomes]
rs72890537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890556	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890558	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890585	1.00[AMR][1000 genomes]
rs72890600	1.00[AMR][1000 genomes]
rs7519633	1.00[AMR][1000 genomes]
rs7549045	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7554112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7555357	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45783200-45788600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:45783400-45787200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
3	chr1:45785400-45787400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:45785400-45788600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:45785600-45787800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:45785600-45788400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:45785800-45787200	Enhancers	HepG2	liver
8	chr1:45786000-45787200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:45786000-45791800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:45786200-45788600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:45786200-45789400	Weak transcription	K562	blood
12	chr1:45786200-45791200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:45786200-45791200	Weak transcription	Spleen	Spleen
14	chr1:45786400-45791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:45786400-45792200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:45786600-45787400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:45786600-45787400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:45786800-45787400	Flanking Active TSS	GM12878-XiMat	blood
19	chr1:45787000-45787200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:45787000-45787400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
21	chr1:45787000-45787400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links