Variant report

Variant	rs5997506
Chromosome Location	chr22:30093026-30093027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30091150..30094109-chr22:30098424..30101093,2	K562	blood:
2	chr22:30086550..30091376-chr22:30091742..30099600,10	MCF-7	breast:
3	chr22:30091841..30093848-chr22:30094919..30097302,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1008515	0.95[AFR][1000 genomes]
rs1009147	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11090576	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987914	0.83[AFR][1000 genomes]
rs17460259	0.88[EUR][1000 genomes]
rs17462054	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800540	0.85[EUR][1000 genomes]
rs1970776	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079339	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2079648	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2530678	0.84[AFR][1000 genomes]
rs2530680	0.94[AFR][1000 genomes]
rs2857629	0.94[AFR][1000 genomes]
rs2857634	0.82[EUR][1000 genomes]
rs4823048	0.83[EUR][1000 genomes]
rs6006219	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6006225	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73390944	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8135737	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9625852	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	nsv529737	chr22:30060946-30109561	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv914965	chr22:30086144-30112226	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5997506	NIPSNAP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30020800-30097000	Weak transcription	Stomach Mucosa	stomach
2	chr22:30054000-30094800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:30055400-30095200	Strong transcription	Fetal Intestine Small	intestine
4	chr22:30056000-30094800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:30060200-30093600	Strong transcription	Fetal Thymus	thymus
6	chr22:30063400-30094600	Strong transcription	Primary T cells from cord blood	blood
7	chr22:30075400-30097400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr22:30076800-30096400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr22:30077800-30096400	Weak transcription	Small Intestine	intestine
10	chr22:30079600-30097000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr22:30079600-30097400	Weak transcription	Hela-S3	cervix
12	chr22:30080000-30097000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr22:30080200-30098800	Weak transcription	GM12878-XiMat	blood
14	chr22:30081000-30096400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr22:30081200-30096400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr22:30085600-30094000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr22:30085800-30095000	Strong transcription	Dnd41	blood
18	chr22:30085800-30096200	Weak transcription	Fetal Kidney	kidney
19	chr22:30086400-30093600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr22:30086400-30094200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:30086400-30094400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr22:30086400-30095200	Strong transcription	Thymus	Thymus
23	chr22:30086400-30096600	Weak transcription	NHDF-Ad	bronchial
24	chr22:30086600-30094200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr22:30086600-30094600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr22:30086600-30095000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:30086600-30098000	Weak transcription	Colon Smooth Muscle	Colon
28	chr22:30086800-30094400	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr22:30086800-30094400	Strong transcription	NHLF	lung
30	chr22:30086800-30095000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr22:30087000-30098400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:30087600-30094200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:30087800-30093800	Weak transcription	A549	lung
34	chr22:30087800-30094000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr22:30088000-30095200	Strong transcription	Fetal Stomach	stomach
36	chr22:30088200-30096400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:30088200-30096800	Weak transcription	K562	blood
38	chr22:30088400-30094400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr22:30088400-30094600	Strong transcription	Fetal Intestine Large	intestine
40	chr22:30088400-30096200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr22:30088400-30096400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr22:30088600-30093400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:30088600-30094200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr22:30088800-30093200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr22:30088800-30093400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr22:30088800-30094800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr22:30088800-30095200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr22:30089000-30094000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr22:30089000-30094200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr22:30089000-30095200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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