Variant report

Variant	rs9625545
Chromosome Location	chr22:29128497-29128498
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	chr22:29126583..29142031-chr22:29203252..29220632,67	MCF-7	breast:
2	chr22:29127658..29141630-chr22:29187451..29201381,67	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226471	Chromatin interaction
ENSG00000272858	Chromatin interaction
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17507066	0.82[EUR][1000 genomes]
rs17882607	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17885892	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788408	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997389	0.85[EUR][1000 genomes]
rs5997390	0.85[EUR][1000 genomes]
rs9620817	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625562	0.82[EUR][1000 genomes]

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	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1064624	chr22:29065528-29130728	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv513775	chr22:29083731-29137822	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv517951	chr22:29105558-29135889	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29076200-29137600	Weak transcription	Esophagus	oesophagus
2	chr22:29076400-29129400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr22:29079600-29130200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr22:29082800-29137600	Weak transcription	Spleen	Spleen
5	chr22:29090200-29129000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr22:29090600-29137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:29090600-29137200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr22:29093600-29132000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr22:29097000-29130800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:29099800-29129000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr22:29100400-29137200	Weak transcription	Pancreas	Pancrea
12	chr22:29101600-29131000	Strong transcription	Dnd41	blood
13	chr22:29103600-29132200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:29105600-29137200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:29106000-29129200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr22:29107600-29136800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr22:29108400-29137200	Weak transcription	Right Atrium	heart
18	chr22:29108800-29129200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:29109000-29129800	Weak transcription	Fetal Lung	lung
20	chr22:29109000-29137000	Weak transcription	HMEC	breast
21	chr22:29109000-29137200	Weak transcription	Liver	Liver
22	chr22:29109000-29137200	Weak transcription	HSMM	muscle
23	chr22:29109200-29128800	Weak transcription	NHEK	skin
24	chr22:29111200-29136600	Weak transcription	HUVEC	blood vessel
25	chr22:29112000-29137600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:29112200-29129400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:29113800-29131200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:29117000-29129200	Weak transcription	Thymus	Thymus
29	chr22:29117200-29129400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:29117200-29129800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:29117200-29136800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr22:29117200-29137200	Weak transcription	NHLF	lung
33	chr22:29118000-29137600	Weak transcription	Ovary	ovary
34	chr22:29118200-29137200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr22:29119000-29129200	Weak transcription	Fetal Thymus	thymus
36	chr22:29119400-29137200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr22:29119800-29128800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr22:29119800-29137200	Weak transcription	A549	lung
39	chr22:29120000-29137200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr22:29120200-29128600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr22:29120400-29129000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr22:29121200-29137400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr22:29121400-29137200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr22:29121600-29129000	Weak transcription	K562	blood
45	chr22:29121600-29136600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr22:29121800-29128800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:29121800-29137200	Weak transcription	Placenta	Placenta
48	chr22:29122200-29129400	Weak transcription	Fetal Intestine Large	intestine
49	chr22:29123000-29130000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr22:29123400-29137200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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