Variant report

Variant	rs132389
Chromosome Location	chr22:29620564-29620565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29612161..29619581-chr22:29619796..29623989,9	K562	blood:
2	chr22:29618425..29620618-chr22:29628418..29631413,2	K562	blood:
3	chr22:29619234..29621532-chr22:29627625..29630372,2	MCF-7	breast:
4	chr22:29619482..29621531-chr22:29625031..29626896,2	K562	blood:
5	chr22:29616773..29618442-chr22:29619234..29622066,2	MCF-7	breast:
6	chr22:29611701..29614819-chr22:29620518..29622673,3	K562	blood:

Variant related genes	Relation type
ENSG00000186998	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs132272	1.00[CEU][hapmap]
rs132281	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29607600-29621000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr22:29607600-29621000	Weak transcription	Esophagus	oesophagus
3	chr22:29611600-29620800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr22:29611800-29621400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:29612400-29621200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr22:29614600-29621000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:29614800-29620800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:29616200-29620800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:29616400-29620600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr22:29616400-29621400	Weak transcription	Thymus	Thymus
11	chr22:29616400-29621600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr22:29617000-29620600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr22:29617000-29620600	Weak transcription	Lung	lung
14	chr22:29617000-29621400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:29617000-29621800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:29617000-29622000	Weak transcription	Stomach Mucosa	stomach
17	chr22:29617200-29627800	Weak transcription	Gastric	stomach
18	chr22:29617400-29620800	Weak transcription	Pancreas	Pancrea
19	chr22:29619200-29620600	Strong transcription	Fetal Intestine Large	intestine
20	chr22:29619200-29622600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr22:29619400-29621400	Enhancers	Colon Smooth Muscle	Colon
22	chr22:29619400-29622400	Enhancers	Colonic Mucosa	Colon
23	chr22:29619400-29622400	Strong transcription	Dnd41	blood
24	chr22:29619400-29623000	Enhancers	Fetal Muscle Leg	muscle
25	chr22:29619600-29621200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr22:29619600-29622400	Genic enhancers	Fetal Intestine Small	intestine
27	chr22:29619600-29623000	Strong transcription	Fetal Brain Female	brain
28	chr22:29619800-29621200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr22:29619800-29621600	Enhancers	Rectal Smooth Muscle	rectum
30	chr22:29619800-29621800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr22:29619800-29622000	Enhancers	Fetal Heart	heart
32	chr22:29619800-29622000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr22:29619800-29622200	Enhancers	Brain Anterior Caudate	brain
34	chr22:29620000-29620800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr22:29620000-29622000	Enhancers	Ovary	ovary
36	chr22:29620000-29622400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:29620000-29622400	Enhancers	Brain Hippocampus Middle	brain
38	chr22:29620000-29622600	Enhancers	Placenta	Placenta
39	chr22:29620000-29622800	Enhancers	Fetal Lung	lung
40	chr22:29620200-29620600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr22:29620200-29621000	Weak transcription	Right Atrium	heart
42	chr22:29620200-29621200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:29620200-29621200	Weak transcription	Brain Germinal Matrix	brain
44	chr22:29620200-29622200	Enhancers	Fetal Stomach	stomach
45	chr22:29620200-29623000	Enhancers	Spleen	Spleen
46	chr22:29620400-29621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:29620400-29621600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr22:29620400-29622200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr22:29620400-29622200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:29620400-29622800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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