Variant report

Variant	rs28565881
Chromosome Location	chr22:29919828-29919829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29876640..29878874-chr22:29919748..29922123,2	K562	blood:
2	chr22:29700578..29702858-chr22:29919367..29920901,2	MCF-7	breast:
3	chr22:29875265..29878874-chr22:29919290..29922123,3	K562	blood:
4	chr22:29907526..29909424-chr22:29918736..29921432,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185340	Chromatin interaction
ENSG00000100285	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10427579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59432592	1.00[AMR][1000 genomes]
rs73388921	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73388971	1.00[AMR][1000 genomes]
rs73407051	1.00[AMR][1000 genomes]
rs73407057	1.00[AMR][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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29897600-29934600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr22:29898200-29947400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:29900400-29929000	Strong transcription	Fetal Stomach	stomach
4	chr22:29900400-29949200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:29900800-29929000	Strong transcription	Fetal Intestine Small	intestine
6	chr22:29900800-29930600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr22:29901000-29947600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:29901200-29925200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr22:29901200-29929600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr22:29901200-29941600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr22:29901200-29945600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:29901400-29937200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr22:29901400-29945800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:29902200-29937000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr22:29902400-29923800	Strong transcription	Lung	lung
16	chr22:29902400-29930000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:29902400-29941200	Strong transcription	Placenta	Placenta
18	chr22:29902600-29949000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr22:29903600-29931000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:29904600-29927600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr22:29910000-29947800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:29910600-29947800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr22:29910800-29937000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr22:29911200-29921400	Strong transcription	Adipose Nuclei	Adipose
25	chr22:29911200-29938000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr22:29911200-29947000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr22:29911400-29930400	Strong transcription	HSMM	muscle
28	chr22:29911400-29945400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr22:29913600-29925800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr22:29913600-29949200	Weak transcription	Right Atrium	heart
31	chr22:29914000-29929600	Weak transcription	Fetal Heart	heart
32	chr22:29914800-29921400	Strong transcription	Hela-S3	cervix
33	chr22:29915000-29924800	Weak transcription	Stomach Mucosa	stomach
34	chr22:29915400-29920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr22:29915400-29920600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:29915600-29920000	Weak transcription	Small Intestine	intestine
37	chr22:29916400-29926200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr22:29917400-29920000	Weak transcription	Right Ventricle	heart
39	chr22:29917400-29925000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr22:29917800-29920000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr22:29917800-29920000	Weak transcription	Gastric	stomach
42	chr22:29917800-29920600	Weak transcription	Colon Smooth Muscle	Colon
43	chr22:29917800-29921000	Weak transcription	Fetal Brain Male	brain
44	chr22:29917800-29921600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr22:29917800-29942400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:29918000-29920000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr22:29918000-29920000	Weak transcription	Primary B cells from cord blood	blood
48	chr22:29918000-29920000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr22:29918000-29920000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr22:29918000-29920000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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