Variant report

Variant	rs4823048
Chromosome Location	chr22:29986237-29986238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29985610..29986509-chr22:30484668..30485434,3	K562	blood:
2	chr22:29986049..29986619-chr22:30484791..30485600,2	MCF-7	breast:
3	chr22:29976903..29980413-chr22:29983613..29986505,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184117	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1009147	0.83[EUR][1000 genomes]
rs11090576	0.83[EUR][1000 genomes]
rs165853	0.84[ASN][1000 genomes]
rs17460259	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17462054	0.83[EUR][1000 genomes]
rs1800540	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1970776	0.83[EUR][1000 genomes]
rs2008880	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2079339	0.83[EUR][1000 genomes]
rs2530660	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2857634	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs457930	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs467669	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs467768	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs468563	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs469189	0.85[ASN][1000 genomes]
rs4823046	0.85[ASN][1000 genomes]
rs5763315	0.85[ASN][1000 genomes]
rs5763347	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5763348	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997506	0.83[EUR][1000 genomes]
rs6006219	0.84[EUR][1000 genomes]
rs6006225	0.83[EUR][1000 genomes]
rs695776	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73159014	0.85[ASN][1000 genomes]
rs73390944	0.80[EUR][1000 genomes]
rs737979	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8135737	0.83[EUR][1000 genomes]
rs9625852	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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4823048	NIPSNAP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29977600-29998800	Weak transcription	Right Atrium	heart
2	chr22:29977800-29994200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:29979000-29990000	Weak transcription	K562	blood
4	chr22:29984600-29986600	Weak transcription	Hela-S3	cervix
5	chr22:29984600-29990000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:29985000-29989800	Weak transcription	A549	lung
7	chr22:29985200-29999000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:29985200-29999000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:29985400-29986600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:29985400-29986600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:29985400-29989600	Weak transcription	HepG2	liver
12	chr22:29985800-29987000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr22:29986000-29986400	Enhancers	Primary B cells from peripheral blood	blood
14	chr22:29986000-29986400	Enhancers	Fetal Thymus	thymus
15	chr22:29986000-29986400	Enhancers	Thymus	Thymus
16	chr22:29986000-29986600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr22:29986000-29986800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr22:29986000-29986800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr22:29986000-29986800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr22:29986000-29986800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr22:29986000-29986800	Enhancers	Duodenum Mucosa	Duodenum
22	chr22:29986000-29987000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr22:29986000-29987000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr22:29986200-29986400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:29986200-29986600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr22:29986200-29986600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr22:29986200-29986600	Enhancers	Dnd41	blood
28	chr22:29986200-29986800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr22:29986200-29986800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr22:29986200-29987000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr22:29986200-29987000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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