Variant report

Variant	rs1419702
Chromosome Location	chr7:125245398-125245399
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	chr7:125243932..125247685-chr7:125249366..125252787,4	K562	blood:
2	chr7:125241383..125243841-chr7:125245305..125247119,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1016997	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10227132	0.94[ASN][1000 genomes]
rs10487420	0.98[ASN][1000 genomes]
rs10954077	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11982831	0.93[ASN][1000 genomes]
rs12666193	0.83[ASN][1000 genomes]
rs12668761	0.83[ASN][1000 genomes]
rs12670153	0.90[ASN][1000 genomes]
rs12690985	0.94[ASN][1000 genomes]
rs12706668	0.93[ASN][1000 genomes]
rs12706669	0.93[ASN][1000 genomes]
rs12706670	0.94[ASN][1000 genomes]
rs12706671	0.94[ASN][1000 genomes]
rs13225478	0.83[ASN][1000 genomes]
rs1362128	0.83[ASN][1000 genomes]
rs1419698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419699	0.94[ASN][1000 genomes]
rs1419700	0.92[ASN][1000 genomes]
rs1419703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1579223	0.93[ASN][1000 genomes]
rs1579224	0.94[ASN][1000 genomes]
rs1579225	0.94[ASN][1000 genomes]
rs1579226	0.94[ASN][1000 genomes]
rs2402782	0.94[ASN][1000 genomes]
rs2896365	0.93[ASN][1000 genomes]
rs4634578	0.94[ASN][1000 genomes]
rs4731253	0.83[ASN][1000 genomes]
rs4731255	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731259	0.83[ASN][1000 genomes]
rs62479899	0.90[ASN][1000 genomes]
rs6467020	0.94[ASN][1000 genomes]
rs6467021	0.94[ASN][1000 genomes]
rs6957945	0.94[ASN][1000 genomes]
rs6958258	0.94[ASN][1000 genomes]
rs6962819	0.94[ASN][1000 genomes]
rs757316	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780182	0.94[ASN][1000 genomes]
rs7781657	0.94[ASN][1000 genomes]
rs7785560	0.94[ASN][1000 genomes]
rs7785979	0.94[ASN][1000 genomes]
rs7790718	0.94[ASN][1000 genomes]
rs7799544	0.83[ASN][1000 genomes]
rs7805276	0.93[ASN][1000 genomes]
rs792160	0.82[AMR][1000 genomes]
rs792416	0.81[AMR][1000 genomes]
rs9649011	0.81[ASN][1000 genomes]
rs983849	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983850	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs996866	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996867	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1028369	chr7:124967804-125508233	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv948720	chr7:124970772-125783434	Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1018428	chr7:125044642-125730775	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1028636	chr7:125073718-125406148	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv539112	chr7:125073718-125406148	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1034113	chr7:125099740-125412688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1027318	chr7:125164599-125317502	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv539113	chr7:125164599-125317502	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv529134	chr7:125178203-125571449	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv464710	chr7:125196970-125287479	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv608347	chr7:125196970-125287479	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv889150	chr7:125232034-125716635	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125245200-125245600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:125245200-125245800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:125245200-125245800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:125245200-125246000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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