Variant report

Variant	rs56761979
Chromosome Location	chr22:30090458-30090459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30086550..30091376-chr22:30091742..30099600,10	MCF-7	breast:
2	chr22:30086150..30087724-chr22:30089523..30091656,2	K562	blood:
3	chr22:30079243..30081163-chr22:30089735..30091351,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57080903	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57175480	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73388921	0.87[AFR][1000 genomes]
rs73390922	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390965	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	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

No data

Chromatin state (count:121 , 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	chr22:30054000-30094800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr22:30055400-30095200	Strong transcription	Fetal Intestine Small	intestine
5	chr22:30056000-30094800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr22:30060200-30093600	Strong transcription	Fetal Thymus	thymus
7	chr22:30063400-30094600	Strong transcription	Primary T cells from cord blood	blood
8	chr22:30075400-30097400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:30076800-30096400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr22:30077800-30096400	Weak transcription	Small Intestine	intestine
11	chr22:30079600-30097000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr22:30079600-30097400	Weak transcription	Hela-S3	cervix
13	chr22:30080000-30097000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr22:30080200-30098800	Weak transcription	GM12878-XiMat	blood
15	chr22:30081000-30096400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr22:30081200-30096400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr22:30085600-30092000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr22:30085600-30094000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr22:30085800-30095000	Strong transcription	Dnd41	blood
20	chr22:30085800-30096200	Weak transcription	Fetal Kidney	kidney
21	chr22:30086000-30091800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:30086000-30092600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr22:30086200-30090800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr22:30086400-30091400	Weak transcription	Brain Substantia Nigra	brain
25	chr22:30086400-30093000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr22:30086400-30093600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr22:30086400-30094200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:30086400-30094400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr22:30086400-30095200	Strong transcription	Thymus	Thymus
30	chr22:30086400-30096600	Weak transcription	NHDF-Ad	bronchial
31	chr22:30086600-30092600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr22:30086600-30092600	Strong transcription	Liver	Liver
33	chr22:30086600-30094200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr22:30086600-30094600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr22:30086600-30095000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:30086600-30098000	Weak transcription	Colon Smooth Muscle	Colon
37	chr22:30086800-30094400	Genic enhancers	Fetal Muscle Trunk	muscle
38	chr22:30086800-30094400	Strong transcription	NHLF	lung
39	chr22:30086800-30095000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:30087000-30092000	Strong transcription	Right Ventricle	heart
41	chr22:30087000-30092000	Genic enhancers	HSMM	muscle
42	chr22:30087000-30098400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:30087200-30092000	Enhancers	HSMMtube	muscle
44	chr22:30087200-30092200	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr22:30087400-30091000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr22:30087400-30092000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr22:30087600-30094200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:30087800-30091000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr22:30087800-30093800	Weak transcription	A549	lung
50	chr22:30087800-30094000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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