Variant report

Variant	rs5998463
Chromosome Location	chr22:32769268-32769269
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	22:31829733-31836635..22:32764253-32784733	K562	blood:
2	22:31936958-31958600..22:32764253-32784733	K562	blood:
3	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
4	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
5	22:32360288-32405313..22:32764253-32784733	K562	blood:

Variant related genes	Relation type
ENSG00000239674	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000230866	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs12160986	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs16987625	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs16990262	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs16990428	0.81[JPT][hapmap]
rs16990430	0.82[JPT][hapmap]
rs2014356	0.82[JPT][hapmap]
rs2072816	0.82[JPT][hapmap]
rs2076034	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2076036	0.80[CHB][hapmap]
rs2076045	0.82[JPT][hapmap]
rs2281034	0.81[JPT][hapmap]
rs2281035	0.81[JPT][hapmap]
rs2294313	0.85[JPT][hapmap]
rs2413108	0.82[CHB][hapmap]
rs2413112	0.92[YRI][hapmap]
rs2899185	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs4140572	0.82[JPT][hapmap]
rs4343557	0.82[CHB][hapmap]
rs5749407	0.82[CHB][hapmap]
rs5749409	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs5749412	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5749413	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs5749416	0.81[JPT][hapmap]
rs5749428	0.82[JPT][hapmap]
rs5749429	0.82[JPT][hapmap]
rs5754003	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs5754008	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs5754009	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs5754010	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs5754018	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs5754020	0.95[CHB][hapmap]
rs5754027	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs5754029	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs5754030	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs5754035	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs5754036	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5754037	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs5754039	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs5754040	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5754042	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs5754043	0.91[CHB][hapmap]
rs5754044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5754045	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs5754049	0.90[CHB][hapmap]
rs5754050	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs5754065	0.82[JPT][hapmap]
rs5994556	1.00[YRI][hapmap]
rs5994557	1.00[YRI][hapmap]
rs5998440	0.95[CHB][hapmap]
rs5998443	1.00[YRI][hapmap]
rs5998450	0.80[YRI][hapmap]
rs5998451	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5998452	1.00[YRI][hapmap]
rs5998455	1.00[YRI][hapmap]
rs5998456	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs5998457	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs5998458	1.00[YRI][hapmap]
rs5998459	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs5998464	1.00[YRI][hapmap]
rs5998466	1.00[YRI][hapmap]
rs5998468	0.92[YRI][hapmap]
rs5998475	0.82[JPT][hapmap]
rs713647	1.00[YRI][hapmap]
rs713790	0.82[JPT][hapmap]
rs713934	0.92[YRI][hapmap]
rs7284302	1.00[YRI][hapmap]
rs738267	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs738268	0.92[YRI][hapmap]
rs738269	0.92[YRI][hapmap]
rs742096	0.81[JPT][hapmap]

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	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	esv1817721	chr22:32758417-32770340	Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv519170	chr22:32765949-32771017	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2084201	chr22:32769267-32769268	Weak transcription	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32755800-32781600	Weak transcription	Ovary	ovary
2	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas

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