Variant report

Variant	rs1805129
Chromosome Location	chr22:29130458-29130459
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	chr22:29126583..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: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11913195	0.80[AFR][1000 genomes]
rs16986630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16986646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16986711	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16986719	0.84[ASN][1000 genomes]
rs16986739	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17882704	0.89[AFR][1000 genomes]
rs17882867	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17883328	1.00[ASN][1000 genomes]
rs17883522	0.80[AFR][1000 genomes]
rs17884342	0.80[AFR][1000 genomes]
rs17885618	0.80[AFR][1000 genomes]
rs2180459	1.00[JPT][hapmap]
rs5762681	1.00[JPT][hapmap]
rs59025667	0.84[ASN][1000 genomes]
rs6005807	1.00[JPT][hapmap]
rs6005846	0.93[ASN][1000 genomes]
rs6005851	1.00[ASN][1000 genomes]
rs60740682	0.82[ASN][1000 genomes]
rs9625587	0.82[ASN][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	chr22:29082800-29137600	Weak transcription	Spleen	Spleen
3	chr22:29090600-29137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:29090600-29137200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr22:29093600-29132000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:29097000-29130800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:29100400-29137200	Weak transcription	Pancreas	Pancrea
8	chr22:29101600-29131000	Strong transcription	Dnd41	blood
9	chr22:29103600-29132200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:29105600-29137200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr22:29107600-29136800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr22:29108400-29137200	Weak transcription	Right Atrium	heart
13	chr22:29109000-29137000	Weak transcription	HMEC	breast
14	chr22:29109000-29137200	Weak transcription	Liver	Liver
15	chr22:29109000-29137200	Weak transcription	HSMM	muscle
16	chr22:29111200-29136600	Weak transcription	HUVEC	blood vessel
17	chr22:29112000-29137600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:29113800-29131200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:29117200-29136800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr22:29117200-29137200	Weak transcription	NHLF	lung
21	chr22:29118000-29137600	Weak transcription	Ovary	ovary
22	chr22:29118200-29137200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr22:29119400-29137200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr22:29119800-29137200	Weak transcription	A549	lung
25	chr22:29120000-29137200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr22:29121200-29137400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr22:29121400-29137200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr22:29121600-29136600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:29121800-29137200	Weak transcription	Placenta	Placenta
30	chr22:29123400-29137200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr22:29124400-29133800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:29125000-29137200	Weak transcription	NHDF-Ad	bronchial
33	chr22:29125400-29137200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr22:29125600-29137200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr22:29126000-29134600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:29126200-29130800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:29126200-29136600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr22:29126400-29130600	Strong transcription	Fetal Stomach	stomach
39	chr22:29126400-29130800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr22:29126400-29130800	Strong transcription	Fetal Intestine Small	intestine
41	chr22:29126600-29130600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:29126600-29130600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr22:29126600-29130600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr22:29126800-29130600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:29126800-29130800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr22:29126800-29137400	Weak transcription	Gastric	stomach
47	chr22:29127400-29137400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr22:29127600-29132600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:29127800-29130800	Strong transcription	HepG2	liver
50	chr22:29128200-29130600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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