Variant report

Variant	rs13230441
Chromosome Location	chr7:69627759-69627760
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	chr7:69626862..69629623-chr7:69629707..69632566,3	K562	blood:
2	chr7:69626862..69629623-chr7:69629707..69632566,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12669460	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12674397	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12698829	0.86[ASN][1000 genomes]
rs12698837	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12698845	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12698852	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12698854	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12698860	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12698863	0.83[AMR][1000 genomes]
rs12698868	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12698874	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12698878	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12698885	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12698890	0.84[ASN][1000 genomes]
rs12698891	0.81[EUR][1000 genomes]
rs12698900	0.81[ASN][1000 genomes]
rs13227197	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13228686	0.82[EUR][1000 genomes]
rs13246213	0.84[ASN][1000 genomes]
rs17141190	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2204339	0.84[ASN][1000 genomes]
rs34215431	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35308787	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6460540	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71535673	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs71535674	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7782663	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7788868	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1020488	chr7:69465268-69671126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv916345	chr7:69520612-69784809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69600000-69631000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69620200-69628400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:69621600-69628400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:69624600-69628400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:69626600-69628400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:69626600-69628600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:69626800-69627800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:69626800-69628000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:69626800-69628400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:69626800-69628400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:69626800-69628400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:69626800-69628400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:69626800-69628400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:69626800-69628600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:69627000-69628600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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