Variant report

Variant	rs683693
Chromosome Location	chr7:18378082-18378083
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:18373835..18376264-chr7:18376406..18378512,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10253810	0.97[ASN][1000 genomes]
rs2791299	0.83[AFR][1000 genomes]
rs2791300	0.94[YRI][hapmap]
rs2960781	0.95[CEU][hapmap]
rs2960783	0.95[CEU][hapmap]
rs581820	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs582937	0.83[EUR][1000 genomes]
rs587325	0.95[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs590099	0.89[CEU][hapmap]
rs596844	0.97[ASN][1000 genomes]
rs600846	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs602349	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs604804	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs605866	0.81[AFR][1000 genomes]
rs606064	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs610447	0.87[ASN][1000 genomes]
rs612977	0.83[EUR][1000 genomes]
rs613852	0.81[ASN][1000 genomes]
rs614304	0.81[ASN][1000 genomes]
rs621573	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs621939	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs627060	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs628095	0.83[ASN][1000 genomes]
rs636246	0.81[ASN][1000 genomes]
rs638521	0.83[ASN][1000 genomes]
rs638620	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs639424	0.83[ASN][1000 genomes]
rs661144	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs667764	0.81[ASN][1000 genomes]
rs669164	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680437	1.00[YRI][hapmap]
rs708127	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv606358	chr7:18084843-18416097	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv887810	chr7:18193589-18391557	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1029901	chr7:18205779-18387956	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv830916	chr7:18254299-18433349	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18374400-18378600	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:18377000-18379200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr7:18377400-18378600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:18377400-18379000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:18377600-18378200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:18378000-18378400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:18378000-18378400	Enhancers	Primary B cells from cord blood	blood
8	chr7:18378000-18378800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:18378000-18378800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links