Variant report

Variant	rs132371
Chromosome Location	chr22:29604275-29604276
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29603086..29606057-chr22:29664265..29665857,2	MCF-7	breast:
2	chr22:29602636..29604550-chr22:29611942..29613555,2	K562	blood:

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs132355	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs132361	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs132362	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs132364	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs132369	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs132372	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132375	0.94[ASN][1000 genomes]
rs132376	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1573711	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][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	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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29602200-29605800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr22:29602400-29605200	Weak transcription	Gastric	stomach
3	chr22:29602400-29605800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29602400-29606200	Flanking Active TSS	Fetal Brain Female	brain
5	chr22:29602800-29604600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:29602800-29604600	Enhancers	Fetal Brain Male	brain
7	chr22:29602800-29604800	Enhancers	Lung	lung
8	chr22:29602800-29605200	Enhancers	Spleen	Spleen
9	chr22:29602800-29605600	Enhancers	Brain Substantia Nigra	brain
10	chr22:29602800-29611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:29602800-29616000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr22:29602800-29616000	Weak transcription	Ovary	ovary
13	chr22:29603000-29604400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:29603000-29604400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:29603000-29604600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:29603000-29604800	Enhancers	Brain Cingulate Gyrus	brain
17	chr22:29603000-29606000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr22:29603000-29606000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
19	chr22:29603000-29610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr22:29603200-29604600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr22:29603200-29604800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr22:29603200-29605800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr22:29603200-29605800	Genic enhancers	Fetal Stomach	stomach
24	chr22:29603400-29604400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:29603400-29604400	Weak transcription	Brain Germinal Matrix	brain
26	chr22:29603400-29605000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr22:29603400-29605000	Enhancers	Primary hematopoietic stem cells	blood
28	chr22:29603400-29605000	Enhancers	Pancreas	Pancrea
29	chr22:29603400-29605200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:29603400-29605400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr22:29603400-29606000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr22:29603400-29606000	Enhancers	Fetal Lung	lung
33	chr22:29603400-29608800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr22:29603400-29611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr22:29603600-29606000	Transcr. at gene 5' and 3'	Dnd41	blood
36	chr22:29603600-29606800	Weak transcription	Fetal Kidney	kidney
37	chr22:29603800-29604800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr22:29603800-29605800	Flanking Active TSS	GM12878-XiMat	blood
39	chr22:29603800-29612600	Weak transcription	Brain Angular Gyrus	brain
40	chr22:29604000-29604800	Enhancers	Fetal Thymus	thymus
41	chr22:29604000-29605800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:29604000-29606000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:29604000-29606200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr22:29604000-29606200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
45	chr22:29604000-29616200	Weak transcription	Thymus	Thymus
46	chr22:29604200-29604400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr22:29604200-29604400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr22:29604200-29604400	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr22:29604200-29604400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr22:29604200-29605600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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