Variant report

Variant	rs756053
Chromosome Location	chr22:30086144-30086145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30085501..30086471-chr22:30400885..30401468,2	K562	blood:
2	chr22:30085509..30086792-chr22:30400990..30401964,4	MCF-7	breast:
3	chr22:30085941..30086486-chr22:30484564..30485178,2	K562	blood:
4	chr22:30085928..30087473-chr22:30162751..30164903,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100319	Chromatin interaction
ENSG00000184076	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs11090572	0.82[AFR][1000 genomes]
rs12165952	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2158619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245194	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2348686	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2527334	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs2527335	0.91[CEU][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs2530662	0.87[CEU][hapmap]
rs2530685	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2857631	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2857638	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2857643	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs2857646	0.87[EUR][1000 genomes]
rs2857647	0.93[EUR][1000 genomes]
rs2857652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56246484	0.91[EUR][1000 genomes]
rs5763378	0.86[CEU][hapmap]
rs6519793	0.87[CEU][hapmap]
rs731647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8140060	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs756053	C22orf30	cis	parietal	SCAN
rs756053	NIPSNAP1	cis	parietal	SCAN
rs756053	PITPNB	cis	cerebellum	SCAN
rs756053	THOC5	cis	cerebellum	SCAN
rs756053	KIAA1671	cis	cerebellum	SCAN
rs756053	CHEK2	cis	cerebellum	SCAN
rs756053	CRYBB3	cis	parietal	SCAN

Chromatin state (count:125 , 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	chr22:30050400-30093000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr22:30053400-30087400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr22:30054000-30094800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:30055400-30095200	Strong transcription	Fetal Intestine Small	intestine
6	chr22:30056000-30094800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr22:30060200-30093600	Strong transcription	Fetal Thymus	thymus
8	chr22:30063400-30094600	Strong transcription	Primary T cells from cord blood	blood
9	chr22:30072800-30088200	Weak transcription	Right Atrium	heart
10	chr22:30075000-30087000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:30075000-30087800	Weak transcription	K562	blood
12	chr22:30075400-30097400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr22:30076800-30096400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr22:30077800-30096400	Weak transcription	Small Intestine	intestine
15	chr22:30079600-30097000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr22:30079600-30097400	Weak transcription	Hela-S3	cervix
17	chr22:30080000-30097000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr22:30080200-30089600	Weak transcription	Colonic Mucosa	Colon
19	chr22:30080200-30098800	Weak transcription	GM12878-XiMat	blood
20	chr22:30080400-30087000	Weak transcription	Right Ventricle	heart
21	chr22:30081000-30096400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr22:30081200-30088000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr22:30081200-30088000	Weak transcription	Pancreas	Pancrea
24	chr22:30081200-30096400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr22:30081400-30089000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:30082000-30088800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr22:30083200-30090000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr22:30083400-30086400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr22:30083400-30089000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:30083800-30087200	Weak transcription	Esophagus	oesophagus
31	chr22:30083800-30087400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr22:30083800-30087800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr22:30083800-30088200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr22:30083800-30088200	Weak transcription	Ovary	ovary
35	chr22:30083800-30088400	Weak transcription	Primary B cells from cord blood	blood
36	chr22:30083800-30088400	Weak transcription	Fetal Intestine Large	intestine
37	chr22:30084000-30089400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr22:30084000-30090000	Weak transcription	Aorta	Aorta
39	chr22:30084200-30088800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr22:30084400-30086200	Weak transcription	Adipose Nuclei	Adipose
41	chr22:30084400-30086600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr22:30084400-30086800	Enhancers	Fetal Muscle Leg	muscle
43	chr22:30084400-30086800	Weak transcription	HepG2	liver
44	chr22:30084400-30088600	Weak transcription	Left Ventricle	heart
45	chr22:30084400-30089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr22:30084400-30089000	Weak transcription	HUVEC	blood vessel
47	chr22:30084400-30089600	Weak transcription	HMEC	breast
48	chr22:30084400-30090400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr22:30084600-30086400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr22:30084600-30086600	Weak transcription	Liver	Liver

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