Variant report

Variant	rs132377
Chromosome Location	chr22:29608276-29608277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29601072..29604199-chr22:29606005..29610482,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186998	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
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];0.94[YRI][hapmap]
rs132367	1.00[CEU][hapmap];0.94[YRI][hapmap]
rs132370	1.00[CEU][hapmap]
rs132373	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs132378	0.84[ASN][1000 genomes]
rs132379	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs132380	1.00[CEU][hapmap]
rs132382	1.00[CEU][hapmap]
rs132386	1.00[CEU][hapmap]
rs713924	1.00[CEU][hapmap]

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	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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29602800-29611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:29602800-29616000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:29602800-29616000	Weak transcription	Ovary	ovary
4	chr22:29603000-29610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr22:29603400-29608800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr22:29603400-29611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:29603800-29612600	Weak transcription	Brain Angular Gyrus	brain
8	chr22:29604000-29616200	Weak transcription	Thymus	Thymus
9	chr22:29604600-29608400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr22:29604800-29612600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:29605000-29619400	Weak transcription	Colonic Mucosa	Colon
12	chr22:29605400-29612200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr22:29605400-29612600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr22:29605400-29614400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:29605400-29616000	Weak transcription	Lung	lung
16	chr22:29605800-29609000	Strong transcription	Fetal Stomach	stomach
17	chr22:29605800-29611200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr22:29605800-29611400	Weak transcription	Brain Germinal Matrix	brain
19	chr22:29605800-29612400	Weak transcription	Brain Anterior Caudate	brain
20	chr22:29605800-29612800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr22:29606000-29609000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:29606000-29611800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr22:29606000-29612600	Weak transcription	Brain Hippocampus Middle	brain
24	chr22:29606200-29608400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr22:29606200-29610200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:29606200-29611000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr22:29606200-29611800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr22:29606200-29616000	Strong transcription	Fetal Intestine Large	intestine
29	chr22:29607200-29612600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:29607600-29609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:29607600-29610400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:29607600-29612200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:29607600-29615000	Enhancers	Fetal Brain Male	brain
34	chr22:29607600-29615200	Weak transcription	Gastric	stomach
35	chr22:29607600-29616000	Strong transcription	Fetal Intestine Small	intestine
36	chr22:29607600-29621000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:29607600-29621000	Weak transcription	Esophagus	oesophagus
38	chr22:29607800-29608600	Weak transcription	Dnd41	blood
39	chr22:29607800-29608800	Weak transcription	Pancreas	Pancrea
40	chr22:29607800-29609000	Weak transcription	Fetal Brain Female	brain
41	chr22:29607800-29609000	Weak transcription	Fetal Kidney	kidney
42	chr22:29607800-29610000	Weak transcription	Spleen	Spleen
43	chr22:29607800-29610200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr22:29607800-29611600	Weak transcription	Fetal Lung	lung
45	chr22:29607800-29614000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:29607800-29616000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr22:29608000-29611000	Weak transcription	GM12878-XiMat	blood

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