Variant report

Variant	rs740527
Chromosome Location	chr22:30085807-30085808
allele	C/T
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	chr22:30085533..30086077-chr22:30484646..30485170,2	MCF-7	breast:
3	chr22:30082647..30084223-chr22:30084382..30086016,2	K562	blood:
4	chr22:30085509..30086792-chr22:30400990..30401964,4	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12628506	1.00[AMR][1000 genomes]
rs140088	1.00[AMR][1000 genomes]
rs2232899	1.00[AMR][1000 genomes]
rs2232902	1.00[AMR][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	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

No data

Chromatin state (count:126 , 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	chr22:30057800-30086000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr22:30060200-30093600	Strong transcription	Fetal Thymus	thymus
9	chr22:30063400-30094600	Strong transcription	Primary T cells from cord blood	blood
10	chr22:30072800-30088200	Weak transcription	Right Atrium	heart
11	chr22:30075000-30087000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:30075000-30087800	Weak transcription	K562	blood
13	chr22:30075400-30097400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr22:30076800-30096400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:30077800-30096400	Weak transcription	Small Intestine	intestine
16	chr22:30079600-30097000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr22:30079600-30097400	Weak transcription	Hela-S3	cervix
18	chr22:30080000-30097000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr22:30080200-30089600	Weak transcription	Colonic Mucosa	Colon
20	chr22:30080200-30098800	Weak transcription	GM12878-XiMat	blood
21	chr22:30080400-30087000	Weak transcription	Right Ventricle	heart
22	chr22:30081000-30096400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr22:30081200-30088000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:30081200-30088000	Weak transcription	Pancreas	Pancrea
25	chr22:30081200-30096400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr22:30081400-30089000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:30082000-30088800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr22:30083200-30090000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr22:30083400-30086400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr22:30083400-30089000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:30083800-30087200	Weak transcription	Esophagus	oesophagus
32	chr22:30083800-30087400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:30083800-30087800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr22:30083800-30088200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr22:30083800-30088200	Weak transcription	Ovary	ovary
36	chr22:30083800-30088400	Weak transcription	Primary B cells from cord blood	blood
37	chr22:30083800-30088400	Weak transcription	Fetal Intestine Large	intestine
38	chr22:30084000-30089400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr22:30084000-30090000	Weak transcription	Aorta	Aorta
40	chr22:30084200-30088800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr22:30084400-30086200	Weak transcription	Adipose Nuclei	Adipose
42	chr22:30084400-30086600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr22:30084400-30086800	Enhancers	Fetal Muscle Leg	muscle
44	chr22:30084400-30086800	Weak transcription	HepG2	liver
45	chr22:30084400-30088600	Weak transcription	Left Ventricle	heart
46	chr22:30084400-30089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr22:30084400-30089000	Weak transcription	HUVEC	blood vessel
48	chr22:30084400-30089600	Weak transcription	HMEC	breast
49	chr22:30084400-30090400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr22:30084600-30086000	Enhancers	HSMM	muscle

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