Variant report

Variant	rs17882607
Chromosome Location	chr22:29120400-29120401
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29117174..29121072-chr22:29214167..29218660,4	MCF-7	breast:
2	chr22:29118802..29121164-chr22:29193533..29196083,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17507066	0.82[EUR][1000 genomes]
rs17880459	0.82[AFR][1000 genomes]
rs17881056	0.82[AFR][1000 genomes]
rs17885109	0.82[AFR][1000 genomes]
rs17885892	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788408	1.00[AFR][1000 genomes];1.00[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625545	0.93[AMR][1000 genomes];1.00[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:103 , 50 per page) page: 1 2 3

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	chr22:29083000-29126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:29090200-29129000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr22:29090600-29137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:29090600-29137200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr22:29093600-29121800	Weak transcription	Small Intestine	intestine
10	chr22:29093600-29132000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr22:29093800-29126600	Weak transcription	Gastric	stomach
12	chr22:29094600-29125000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:29097000-29130800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr22:29099800-29129000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:29100400-29137200	Weak transcription	Pancreas	Pancrea
16	chr22:29101600-29131000	Strong transcription	Dnd41	blood
17	chr22:29103600-29124800	Weak transcription	GM12878-XiMat	blood
18	chr22:29103600-29132200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:29105600-29137200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr22:29106000-29129200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr22:29107600-29136800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr22:29108000-29121000	Weak transcription	K562	blood
23	chr22:29108400-29124400	Weak transcription	Psoas Muscle	Psoas
24	chr22:29108400-29137200	Weak transcription	Right Atrium	heart
25	chr22:29108800-29120400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr22:29108800-29126600	Weak transcription	Fetal Muscle Leg	muscle
27	chr22:29108800-29129200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr22:29109000-29129800	Weak transcription	Fetal Lung	lung
29	chr22:29109000-29137000	Weak transcription	HMEC	breast
30	chr22:29109000-29137200	Weak transcription	Liver	Liver
31	chr22:29109000-29137200	Weak transcription	HSMM	muscle
32	chr22:29109200-29120400	Weak transcription	HepG2	liver
33	chr22:29109200-29124000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:29109200-29124400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr22:29109200-29128800	Weak transcription	NHEK	skin
36	chr22:29110600-29125200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr22:29111000-29124600	Weak transcription	NHDF-Ad	bronchial
38	chr22:29111200-29124400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:29111200-29136600	Weak transcription	HUVEC	blood vessel
40	chr22:29112000-29123600	Weak transcription	Hela-S3	cervix
41	chr22:29112000-29137600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:29112200-29129400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr22:29112800-29121000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr22:29113800-29131200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:29114000-29125200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:29114200-29125400	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr22:29114800-29122400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr22:29115200-29120800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr22:29115200-29126000	Weak transcription	Stomach Mucosa	stomach
50	chr22:29115600-29122000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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