Variant report

Variant	rs60160467
Chromosome Location	chr22:29659283-29659284
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:29658533-29660725	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr22:29654506-29660719	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29654217..29657445-chr22:29658284..29661902,3	MCF-7	breast:

Variant related genes	Relation type
EWSR1	TF binding region
ENSG00000237015	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs58759678	0.81[AFR][1000 genomes]
rs60770384	0.91[AFR][1000 genomes]
rs73401101	1.00[AFR][1000 genomes]
rs73403003	1.00[AFR][1000 genomes]
rs73403006	0.90[AFR][1000 genomes]
rs73403025	0.91[AFR][1000 genomes]
rs73403028	0.91[AFR][1000 genomes]
rs73403032	0.91[AFR][1000 genomes]
rs73403038	0.91[AFR][1000 genomes]
rs73403039	0.83[AFR][1000 genomes]
rs73403058	0.83[AFR][1000 genomes]
rs73403063	0.83[AFR][1000 genomes]
rs73403064	0.83[AFR][1000 genomes]
rs73403080	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29629000-29659400	Weak transcription	Brain Anterior Caudate	brain
2	chr22:29641600-29659800	Weak transcription	Ovary	ovary
3	chr22:29641600-29661800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:29642000-29659600	Weak transcription	Colon Smooth Muscle	Colon
5	chr22:29642200-29659800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr22:29642600-29662400	Strong transcription	Fetal Intestine Small	intestine
7	chr22:29643600-29660400	Weak transcription	Fetal Kidney	kidney
8	chr22:29644600-29659800	Weak transcription	Brain Substantia Nigra	brain
9	chr22:29647400-29662000	Strong transcription	Fetal Stomach	stomach
10	chr22:29649000-29662400	Weak transcription	Fetal Brain Male	brain
11	chr22:29650200-29662600	Weak transcription	Stomach Mucosa	stomach
12	chr22:29650600-29659800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:29650600-29660000	Weak transcription	Primary T cells from cord blood	blood
14	chr22:29650600-29660200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:29650800-29659800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr22:29651000-29659600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr22:29651000-29660000	Weak transcription	HepG2	liver
18	chr22:29651800-29659600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:29652200-29659800	Weak transcription	HMEC	breast
20	chr22:29652400-29660200	Weak transcription	NHEK	skin
21	chr22:29653400-29659800	Weak transcription	NHLF	lung
22	chr22:29653600-29659600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:29653600-29662200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr22:29654000-29659600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr22:29654000-29659800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr22:29654200-29662600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr22:29654400-29659800	Weak transcription	Aorta	Aorta
28	chr22:29654400-29660000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:29654600-29659800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr22:29654600-29662200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr22:29654600-29662400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr22:29654600-29662400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr22:29654600-29662600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr22:29654800-29662400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr22:29655200-29661200	Weak transcription	GM12878-XiMat	blood
36	chr22:29655400-29659800	Weak transcription	Osteobl	bone
37	chr22:29655600-29659600	Weak transcription	Pancreas	Pancrea
38	chr22:29655600-29662800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr22:29655800-29659600	Weak transcription	A549	lung
40	chr22:29656200-29659600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr22:29656400-29659600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:29656400-29659800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr22:29656600-29659600	Weak transcription	Fetal Thymus	thymus
44	chr22:29656600-29659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:29656600-29659800	Weak transcription	Gastric	stomach
46	chr22:29656800-29659600	Weak transcription	Brain Hippocampus Middle	brain
47	chr22:29656800-29659800	Weak transcription	Esophagus	oesophagus
48	chr22:29656800-29659800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr22:29657000-29659600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr22:29657000-29659600	Weak transcription	Right Ventricle	heart

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