Variant report

Variant	rs132386
Chromosome Location	chr22:29618000-29618001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29600453..29603035-chr22:29615819..29618230,2	K562	blood:
2	chr22:29616773..29618442-chr22:29619234..29622066,2	MCF-7	breast:
3	chr22:29617283..29619466-chr22:29651521..29653548,2	K562	blood:
4	chr22:29612161..29619581-chr22:29619796..29623989,9	K562	blood:
5	chr22:29616331..29618039-chr22:29656036..29658500,2	MCF-7	breast:
6	chr22:29616106..29618160-chr22:29628448..29630302,2	K562	blood:
7	chr22:29617687..29619581-chr22:29621568..29623250,2	K562	blood:

Variant related genes	Relation type
ENSG00000237015	Chromatin interaction
ENSG00000186998	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs132289	1.00[AFR][1000 genomes]
rs132308	1.00[CEU][hapmap]
rs132314	1.00[CEU][hapmap]
rs132348	1.00[CEU][hapmap]
rs132350	1.00[CEU][hapmap]
rs132366	1.00[CEU][hapmap]
rs132367	1.00[CEU][hapmap]
rs132370	1.00[CEU][hapmap]
rs132373	1.00[CEU][hapmap]
rs132377	1.00[CEU][hapmap]
rs132379	0.82[CEU][hapmap]
rs132380	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs132382	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs469982	1.00[AFR][1000 genomes]
rs713924	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	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
5	esv1806500	chr22:29604787-29635071	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv522714	chr22:29612508-29630337	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29605000-29619400	Weak transcription	Colonic Mucosa	Colon
2	chr22:29607600-29621000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:29607600-29621000	Weak transcription	Esophagus	oesophagus
4	chr22:29611600-29620800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr22:29611800-29621400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:29612400-29621200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr22:29613200-29619000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:29613200-29619800	Weak transcription	Brain Anterior Caudate	brain
9	chr22:29613200-29620000	Weak transcription	Brain Hippocampus Middle	brain
10	chr22:29613400-29619400	Weak transcription	Fetal Muscle Leg	muscle
11	chr22:29613800-29620000	Weak transcription	Brain Germinal Matrix	brain
12	chr22:29614000-29619600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:29614000-29620000	Weak transcription	Placenta	Placenta
14	chr22:29614600-29619600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:29614600-29621000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29614800-29620800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29615000-29619400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr22:29616000-29619200	Weak transcription	Fetal Intestine Large	intestine
19	chr22:29616200-29620800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr22:29616400-29619600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:29616400-29620600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr22:29616400-29621400	Weak transcription	Thymus	Thymus
23	chr22:29616400-29621600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr22:29616800-29619400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr22:29616800-29619400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr22:29616800-29619600	Weak transcription	Fetal Brain Female	brain
27	chr22:29617000-29618200	Enhancers	HepG2	liver
28	chr22:29617000-29619000	Weak transcription	Fetal Stomach	stomach
29	chr22:29617000-29619000	Weak transcription	Spleen	Spleen
30	chr22:29617000-29619400	Weak transcription	Colon Smooth Muscle	Colon
31	chr22:29617000-29619400	Weak transcription	Dnd41	blood
32	chr22:29617000-29619600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr22:29617000-29619600	Strong transcription	Fetal Intestine Small	intestine
34	chr22:29617000-29619600	Weak transcription	Fetal Lung	lung
35	chr22:29617000-29619800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr22:29617000-29620400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr22:29617000-29620600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr22:29617000-29620600	Weak transcription	Lung	lung
39	chr22:29617000-29621400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr22:29617000-29621800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:29617000-29622000	Weak transcription	Stomach Mucosa	stomach
42	chr22:29617200-29620000	Weak transcription	Ovary	ovary
43	chr22:29617200-29627800	Weak transcription	Gastric	stomach
44	chr22:29617400-29619200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:29617400-29620800	Weak transcription	Pancreas	Pancrea

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