Variant report

Variant	rs7750037
Chromosome Location	chr6:110490570-110490571
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	chr6:110489268..110491516-chr6:110498726..110501361,2	K562	blood:

Variant related genes	Relation type
ENSG00000112290	Chromatin interaction
ENSG00000168438	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11751592	0.95[EUR][1000 genomes]
rs11752726	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11753953	0.86[EUR][1000 genomes]
rs11756044	0.86[EUR][1000 genomes]
rs11756892	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11757333	0.86[EUR][1000 genomes]
rs11759874	0.86[EUR][1000 genomes]
rs12111403	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12201521	1.00[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs17071246	0.86[EUR][1000 genomes]
rs17071335	0.81[GIH][hapmap];0.85[TSI][hapmap]
rs17071340	0.81[GIH][hapmap];0.85[TSI][hapmap]
rs2334320	0.81[GIH][hapmap];0.85[TSI][hapmap]
rs2361499	0.86[EUR][1000 genomes]
rs34164264	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35265701	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4413651	0.86[EUR][1000 genomes]
rs55638850	0.95[EUR][1000 genomes]
rs55725048	0.95[EUR][1000 genomes]
rs55748081	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55817927	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913032	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55953493	0.86[EUR][1000 genomes]
rs55960151	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56092341	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56209747	0.95[EUR][1000 genomes]
rs56806615	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61562056	0.86[EUR][1000 genomes]
rs6904509	0.84[AMR][1000 genomes]
rs6908582	0.86[EUR][1000 genomes]
rs6931749	0.87[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6932203	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73533808	0.86[EUR][1000 genomes]
rs73765680	0.84[EUR][1000 genomes]
rs7753237	0.86[EUR][1000 genomes]
rs7763743	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886535	chr6:110377006-110551463	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv2757188	chr6:110389926-110504680	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv2759462	chr6:110389926-110504680	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1792799	chr6:110411065-110566597	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv886536	chr6:110426046-110502831	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv948824	chr6:110443685-110889332	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7750037	WASF1	cis	Muscle Skeletal	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110449200-110498600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:110462600-110498800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:110470200-110499400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:110471600-110499600	Weak transcription	Primary B cells from cord blood	blood
5	chr6:110478400-110491400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:110485000-110494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:110488600-110490600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:110488800-110496800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:110489600-110491400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:110489600-110491400	Enhancers	Brain Angular Gyrus	brain
11	chr6:110489800-110491600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:110489800-110492400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:110490000-110490800	Enhancers	Fetal Brain Female	brain
14	chr6:110490200-110490600	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:110490200-110492400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:110490200-110494800	Weak transcription	Ovary	ovary
17	chr6:110490400-110491400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:110490400-110498800	Weak transcription	Brain Germinal Matrix	brain

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