Variant report

Variant	rs1981548
Chromosome Location	chr7:99541360-99541361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99536487..99537988-chr7:99540630..99543406,2	K562	blood:
2	chr7:99535893..99538781-chr7:99539632..99543406,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 13 )

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

rs_ID	r²[population]
rs1048705	0.85[CHB][hapmap]
rs10808114	0.85[CHB][hapmap]
rs2057766	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2060452	0.84[CHB][hapmap]
rs2107351	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2247761	0.84[CHB][hapmap]
rs2525534	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525537	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525541	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525542	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525547	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2525548	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2527886	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2527890	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527891	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527892	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527893	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2527894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2527895	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2527897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2527899	0.84[CHB][hapmap]
rs2527901	0.85[CHB][hapmap]
rs2527903	0.84[CHB][hapmap]
rs2527907	0.84[CHB][hapmap]
rs2527914	0.85[CHB][hapmap]
rs2527918	0.83[CHB][hapmap]
rs2527919	0.85[CHB][hapmap]
rs2527922	0.85[CHB][hapmap]
rs2571992	0.84[CHB][hapmap]
rs2571997	0.84[CHB][hapmap]
rs2571998	0.84[CHB][hapmap]
rs2572003	0.85[CHB][hapmap]
rs2572005	0.85[CHB][hapmap]
rs2572006	0.84[CHB][hapmap]
rs2572008	0.85[CHB][hapmap]
rs2572010	0.85[CHB][hapmap]

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	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv607930	chr7:99525241-99602191	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv1828362	chr7:99530233-99628773	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv888772	chr7:99533178-99602191	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs1981548	TRIM4	cis	normal skin	skin_eQTL
rs1981548	TRIM4	cis	Adipose Subcutaneous	GTEx
rs1981548	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs1981548	TRIM4	cis	Esophagus Muscularis	GTEx
rs1981548	TRIM4	cis	Skin Sun Exposed Lower leg	GTEx
rs1981548	TRIM4	Cis_1M	lymphoblastoid	RTeQTL
rs1981548	TRIM4	cis	Artery Aorta	GTEx
rs1981548	TRIM4	cis	Nerve Tibial	GTEx
rs1981548	TRIM4	cis	Stomach	GTEx
rs1981548	TRIM4	cis	Muscle Skeletal	GTEx
rs1981548	TRIM4	cis	Thyroid	GTEx
rs1981548	TRIM4	cis	Artery Tibial	GTEx
rs1981548	TRIM4	cis	multi-tissue	Pritchard

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99532400-99548000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:99540400-99541400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:99540600-99541400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:99540800-99541600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:99541000-99541400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:99541000-99541600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr7:99541000-99541600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:99541000-99541800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:99541000-99542000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:99541000-99542000	Enhancers	HepG2	liver
11	chr7:99541000-99542200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:99541000-99542800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:99541000-99543200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:99541200-99541400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr7:99541200-99541400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:99541200-99541400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:99541200-99541400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:99541200-99541600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:99541200-99541800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr7:99541200-99541800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:99541200-99542000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr7:99541200-99542400	Enhancers	Primary B cells from peripheral blood	blood

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