Variant report

Variant	rs9623979
Chromosome Location	chr22:23291613-23291614
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:23281421..23283891-chr22:23290438..23292257,2	K562	blood:
2	chr22:23291324..23292487-chr22:23300573..23301627,3	K562	blood:
3	chr22:23289653..23291912-chr22:23295196..23297731,2	K562	blood:
4	chr22:23286541..23288859-chr22:23290512..23293076,4	K562	blood:
5	chr22:23283899..23288368-chr22:23289284..23293076,7	K562	blood:
6	chr22:23291472..23293714-chr22:23301648..23303481,2	K562	blood:
7	chr22:23290954..23293173-chr22:23313893..23316552,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10483115	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs11705217	1.00[JPT][hapmap]
rs11913797	1.00[JPT][hapmap]
rs12166564	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs1892724	0.93[CEU][hapmap];0.87[GIH][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs2013551	1.00[JPT][hapmap]
rs2078741	0.85[EUR][1000 genomes]
rs2213952	0.85[EUR][1000 genomes]
rs2213953	0.93[CEU][hapmap];0.87[GIH][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs4589858	0.84[EUR][1000 genomes]
rs57782156	0.86[EUR][1000 genomes]
rs5996420	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5996423	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5996425	0.92[EUR][1000 genomes]
rs5996441	0.85[EUR][1000 genomes]
rs5996442	0.85[EUR][1000 genomes]
rs5996443	0.84[EUR][1000 genomes]
rs6003396	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6003399	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6003402	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6003403	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6003429	0.87[EUR][1000 genomes]
rs6003438	0.93[CEU][hapmap];0.87[GIH][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs6003439	1.00[JPT][hapmap]
rs6003440	0.85[EUR][1000 genomes]
rs6003443	0.84[EUR][1000 genomes]
rs6003445	1.00[JPT][hapmap]
rs6003446	0.84[EUR][1000 genomes]
rs6003447	0.84[EUR][1000 genomes]
rs6003451	0.84[EUR][1000 genomes]
rs6003454	0.84[EUR][1000 genomes]
rs6003475	1.00[JPT][hapmap]
rs60784318	0.85[EUR][1000 genomes]
rs73166828	0.88[EUR][1000 genomes]
rs73166833	0.87[EUR][1000 genomes]
rs73166850	0.85[EUR][1000 genomes]
rs73166858	0.85[EUR][1000 genomes]
rs73166868	0.82[EUR][1000 genomes]
rs765744	1.00[JPT][hapmap]
rs915613	1.00[JPT][hapmap]
rs9306382	0.84[EUR][1000 genomes]
rs9612174	0.90[EUR][1000 genomes]
rs9612177	1.00[JPT][hapmap]
rs9612178	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs9612186	1.00[JPT][hapmap]
rs9612188	1.00[JPT][hapmap]
rs9612192	1.00[JPT][hapmap]
rs9620192	0.88[EUR][1000 genomes]
rs9620193	0.87[EUR][1000 genomes]
rs9620205	0.84[EUR][1000 genomes]
rs9623986	0.85[EUR][1000 genomes]
rs9623992	0.93[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432185	chr22:22427560-23324839	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv1803110	chr22:22731758-23497674	Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1065639	chr22:22850879-23354297	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	113 gene(s)	inside rSNPs	diseases
4	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
5	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
6	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
8	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
9	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
11	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
16	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
17	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
18	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
19	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
20	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
21	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
22	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
23	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
24	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
25	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
26	nsv834153	chr22:23172520-23349640	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
27	esv34158	chr22:23216762-23499513	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
28	nsv1055951	chr22:23273137-23337914	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9623979	POM121L9P	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23287000-23292400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr22:23287000-23294000	Weak transcription	Spleen	Spleen
3	chr22:23287400-23291800	Weak transcription	Dnd41	blood
4	chr22:23289800-23294000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:23290000-23294600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr22:23290000-23294800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:23290200-23291800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr22:23290200-23292800	Weak transcription	GM12878-XiMat	blood
9	chr22:23290600-23291800	Enhancers	HSMM	muscle
10	chr22:23290600-23291800	Enhancers	HSMMtube	muscle
11	chr22:23291000-23294200	Strong transcription	Right Atrium	heart
12	chr22:23291000-23296200	Enhancers	Primary B cells from cord blood	blood
13	chr22:23291200-23291800	Bivalent Enhancer	Fetal Stomach	stomach
14	chr22:23291400-23298600	Enhancers	Primary B cells from peripheral blood	blood

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