Variant report

Variant	rs45621334
Chromosome Location	chr7:150552512-150552513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150550808..150555015-chr7:150558384..150561943,5	K562	blood:
2	chr7:150550808..150553153-chr7:150558456..150560989,3	K562	blood:
3	chr7:150541762..150544255-chr7:150551164..150553467,2	K562	blood:
4	chr7:150547227..150549974-chr7:150551519..150553271,2	K562	blood:

Variant related genes	Relation type
ENSG00000002726	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58964247	1.00[AMR][1000 genomes]
rs73468628	1.00[AMR][1000 genomes]
rs9770044	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1031497	chr7:150547113-150572570	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1029395	chr7:150547113-150574552	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150539600-150553800	Weak transcription	Liver	Liver
2	chr7:150543200-150557600	Weak transcription	Right Atrium	heart
3	chr7:150549600-150553600	Weak transcription	Spleen	Spleen
4	chr7:150549800-150557400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:150549800-150558400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:150550000-150557400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:150550400-150553800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:150550600-150553600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:150550600-150555000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:150551200-150552800	Enhancers	Fetal Intestine Large	intestine
11	chr7:150551400-150554400	Weak transcription	Colonic Mucosa	Colon
12	chr7:150551600-150553600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:150551800-150553800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:150552000-150553400	Enhancers	Placenta	Placenta
15	chr7:150552200-150552800	Enhancers	Fetal Intestine Small	intestine
16	chr7:150552200-150553800	Enhancers	HMEC	breast
17	chr7:150552400-150552600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr7:150552400-150553000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:150552400-150553600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:150552400-150553800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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