Variant report

Variant	rs238864
Chromosome Location	chr22:34168663-34168664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34167046..34169223-chr22:34170241..34173338,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1008501	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs2213314	0.80[CHB][hapmap]
rs238865	0.85[YRI][hapmap]
rs369342	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs384958	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs404038	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs453075	0.92[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749664	0.80[CHB][hapmap];0.92[YRI][hapmap]
rs5749676	0.81[CHB][hapmap]
rs5754677	1.00[YRI][hapmap]
rs5754691	0.80[CHB][hapmap];0.81[CHD][hapmap]
rs5754710	0.81[CHB][hapmap]
rs5999108	0.85[ASW][hapmap]
rs666775	0.92[YRI][hapmap]
rs686137	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1055203	chr22:34098417-34196685	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv459878	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv588936	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv524156	chr22:34145596-34260738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv529885	chr22:34150132-34182300	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1064781	chr22:34152145-34231792	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv529886	chr22:34153740-34258847	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34124800-34171000	Weak transcription	Ovary	ovary
2	chr22:34126200-34176200	Weak transcription	Spleen	Spleen
3	chr22:34153400-34169000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:34154200-34169600	Weak transcription	Psoas Muscle	Psoas
5	chr22:34154400-34171000	Weak transcription	Colon Smooth Muscle	Colon
6	chr22:34154400-34175800	Weak transcription	Fetal Stomach	stomach
7	chr22:34154400-34176000	Weak transcription	Gastric	stomach
8	chr22:34162600-34172600	Weak transcription	Lung	lung
9	chr22:34165000-34169400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:34165400-34169400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:34165400-34171000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:34165400-34176400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr22:34165600-34169800	Enhancers	Left Ventricle	heart
14	chr22:34165600-34172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:34165800-34172000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:34166000-34171000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:34166000-34172200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:34166000-34176600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:34166800-34175800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr22:34167000-34171200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr22:34167200-34169600	Enhancers	Right Ventricle	heart
22	chr22:34167600-34169400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr22:34167600-34172200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr22:34167800-34169400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr22:34167800-34169600	Weak transcription	Brain Anterior Caudate	brain
26	chr22:34167800-34176000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:34168000-34170800	Weak transcription	Right Atrium	heart
28	chr22:34168000-34171000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:34168000-34173000	Weak transcription	Pancreas	Pancrea
30	chr22:34168000-34183800	Enhancers	Fetal Heart	heart
31	chr22:34168400-34169000	Weak transcription	Fetal Brain Male	brain
32	chr22:34168600-34169000	Weak transcription	Fetal Brain Female	brain
33	chr22:34168600-34169200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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