Variant report

Variant	rs59732153
Chromosome Location	chr22:30235371-30235372
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr22:30233342-30235412	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30232954..30235817-chr22:30277750..30279574,2	MCF-7	breast:
2	chr22:30225765..30230715-chr22:30232604..30236000,6	K562	blood:
3	chr22:30221897..30227952-chr22:30230604..30235599,8	MCF-7	breast:
4	chr22:30199503..30202747-chr22:30231620..30235442,3	MCF-7	breast:
5	chr22:30228718..30231367-chr22:30232651..30236541,5	K562	blood:
6	chr22:30224439..30228420-chr22:30233600..30235751,3	K562	blood:
7	chr22:30226725..30230027-chr22:30233173..30235923,3	MCF-7	breast:

No data

Variant related genes	Relation type
ASCC2	TF binding region
ENSG00000100325	Chromatin interaction
ENSG00000100330	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs2051858	1.00[AMR][1000 genomes]
rs2051859	1.00[AMR][1000 genomes]
rs2107672	1.00[AMR][1000 genomes]
rs2107673	1.00[AMR][1000 genomes]
rs2158535	1.00[AMR][1000 genomes]
rs2232904	1.00[AMR][1000 genomes]
rs56836109	1.00[AMR][1000 genomes]
rs57349783	1.00[AMR][1000 genomes]
rs57561197	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57631440	1.00[AMR][1000 genomes]
rs57889745	1.00[AMR][1000 genomes]
rs58198399	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58906954	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59632146	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006286	1.00[AMR][1000 genomes]
rs60416116	1.00[AMR][1000 genomes]
rs60573683	1.00[AMR][1000 genomes]
rs60613378	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61310283	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390962	1.00[AMR][1000 genomes]
rs73390967	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390968	1.00[AMR][1000 genomes]
rs73392820	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392847	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392870	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392874	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392878	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392892	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392894	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394839	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394864	1.00[AMR][1000 genomes]
rs73394865	1.00[AMR][1000 genomes]
rs73394872	1.00[AMR][1000 genomes]
rs73394875	1.00[AMR][1000 genomes]
rs73394884	1.00[AMR][1000 genomes]
rs73394885	1.00[AMR][1000 genomes]
rs73394887	1.00[AMR][1000 genomes]
rs73394890	1.00[AMR][1000 genomes]
rs73394892	1.00[AMR][1000 genomes]
rs73394897	1.00[AMR][1000 genomes]
rs73396803	1.00[AMR][1000 genomes]
rs73396810	1.00[AMR][1000 genomes]
rs73396811	1.00[AMR][1000 genomes]
rs73396818	1.00[AMR][1000 genomes]
rs73396822	1.00[AMR][1000 genomes]
rs73396823	1.00[AMR][1000 genomes]
rs73396826	1.00[AMR][1000 genomes]
rs73396827	1.00[AMR][1000 genomes]
rs73396828	1.00[AMR][1000 genomes]
rs73396830	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30234600-30235400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr22:30234600-30235400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr22:30234800-30235400	Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr22:30234800-30235400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr22:30234800-30235400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr22:30234800-30235400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:30234800-30235800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:30234800-30236400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:30234800-30238000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr22:30234800-30238200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:30234800-30238200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:30234800-30238200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr22:30234800-30238400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr22:30234800-30238400	Weak transcription	HSMMtube	muscle
15	chr22:30234800-30238400	Weak transcription	NH-A	brain
16	chr22:30234800-30239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:30235000-30235400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr22:30235000-30235400	Enhancers	Primary T cells from cord blood	blood
19	chr22:30235000-30235400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr22:30235000-30235400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr22:30235000-30235400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr22:30235000-30235400	Enhancers	Hela-S3	cervix
23	chr22:30235000-30235400	Enhancers	K562	blood
24	chr22:30235000-30235600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr22:30235000-30236400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:30235000-30236400	Weak transcription	HMEC	breast
27	chr22:30235000-30237800	Weak transcription	NHEK	skin
28	chr22:30235000-30238200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:30235000-30238200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:30235000-30238200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr22:30235000-30238200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:30235000-30238200	Weak transcription	Stomach Mucosa	stomach
33	chr22:30235000-30238200	Weak transcription	HSMM	muscle
34	chr22:30235000-30238200	Weak transcription	Osteobl	bone
35	chr22:30235000-30238400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr22:30235000-30238400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr22:30235000-30238400	Weak transcription	HUVEC	blood vessel
38	chr22:30235000-30238400	Weak transcription	NHLF	lung
39	chr22:30235000-30238600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr22:30235200-30235400	Enhancers	Primary B cells from cord blood	blood
41	chr22:30235200-30235400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr22:30235200-30235400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr22:30235200-30235400	Enhancers	Spleen	Spleen
44	chr22:30235200-30235400	Enhancers	Dnd41	blood
45	chr22:30235200-30235600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:30235200-30236000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:30235200-30236200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:30235200-30237600	Weak transcription	NHDF-Ad	bronchial
49	chr22:30235200-30237800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:30235200-30237800	Weak transcription	A549	lung

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