Variant report

Variant	rs57846969
Chromosome Location	chr22:29214878-29214879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28995342..28997582-chr22:29214405..29215908,2	MCF-7	breast:
2	chr22:29167538..29169220-chr22:29214711..29217265,3	MCF-7	breast:
3	chr22:29133437..29141650-chr22:29203240..29216422,34	MCF-7	breast:
4	chr22:29167147..29172880-chr22:29212986..29217151,7	MCF-7	breast:
5	chr17:56735334..56737625-chr22:29214146..29217564,3	MCF-7	breast:
6	chr22:29214264..29215838-chr9:132244922..132247103,2	MCF-7	breast:
7	chr22:29126583..29142031-chr22:29203252..29220632,67	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000204054	Chromatin interaction
ENSG00000159873	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11912894	1.00[EUR][1000 genomes]
rs11913224	1.00[EUR][1000 genomes]
rs11913805	1.00[EUR][1000 genomes]
rs17882995	1.00[EUR][1000 genomes]
rs55665300	1.00[EUR][1000 genomes]
rs55945584	1.00[EUR][1000 genomes]
rs56089216	1.00[EUR][1000 genomes]
rs56332784	1.00[EUR][1000 genomes]
rs57119189	1.00[EUR][1000 genomes]
rs57188271	1.00[EUR][1000 genomes]
rs57198336	1.00[EUR][1000 genomes]
rs58089713	1.00[EUR][1000 genomes]
rs58162235	1.00[EUR][1000 genomes]
rs58221763	1.00[EUR][1000 genomes]
rs58579082	1.00[EUR][1000 genomes]
rs59519868	1.00[EUR][1000 genomes]
rs59546292	1.00[EUR][1000 genomes]
rs60003056	1.00[EUR][1000 genomes]
rs6005942	1.00[EUR][1000 genomes]
rs60187407	1.00[EUR][1000 genomes]
rs60747358	1.00[EUR][1000 genomes]
rs60780652	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61257487	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61581392	1.00[EUR][1000 genomes]
rs722590	1.00[EUR][1000 genomes]
rs73430163	1.00[EUR][1000 genomes]
rs73430202	1.00[EUR][1000 genomes]
rs73881118	1.00[EUR][1000 genomes]
rs73881187	1.00[EUR][1000 genomes]
rs73881189	1.00[EUR][1000 genomes]
rs73881197	1.00[EUR][1000 genomes]
rs73881200	1.00[EUR][1000 genomes]
rs73881201	1.00[EUR][1000 genomes]
rs73882404	1.00[EUR][1000 genomes]
rs73882405	1.00[EUR][1000 genomes]
rs73882406	1.00[EUR][1000 genomes]
rs73882414	1.00[EUR][1000 genomes]
rs73882422	1.00[EUR][1000 genomes]
rs73882424	1.00[EUR][1000 genomes]
rs73882428	1.00[EUR][1000 genomes]
rs73882440	1.00[EUR][1000 genomes]
rs73882443	1.00[EUR][1000 genomes]
rs73882445	1.00[EUR][1000 genomes]
rs73882447	1.00[EUR][1000 genomes]
rs73882449	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29197200-29231600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:29197400-29220400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:29198000-29225200	Weak transcription	HSMM	muscle
4	chr22:29198200-29218600	Weak transcription	Brain Angular Gyrus	brain
5	chr22:29198400-29215600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:29198400-29225200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:29198600-29219400	Weak transcription	NHLF	lung
8	chr22:29198600-29225200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:29198600-29225200	Weak transcription	Osteobl	bone
10	chr22:29198600-29231400	Weak transcription	HSMMtube	muscle
11	chr22:29198800-29230800	Weak transcription	NHEK	skin
12	chr22:29200600-29231400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:29205200-29218800	Weak transcription	Brain Hippocampus Middle	brain
14	chr22:29205400-29217000	Weak transcription	Gastric	stomach
15	chr22:29205400-29225600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:29206200-29215600	Enhancers	Stomach Mucosa	stomach
17	chr22:29208200-29221000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr22:29208400-29217000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr22:29211400-29215600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:29211400-29216200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:29211600-29218800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:29211800-29219200	Enhancers	Fetal Thymus	thymus
23	chr22:29211800-29225600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:29212000-29225200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:29212600-29215800	Enhancers	Thymus	Thymus
26	chr22:29212600-29216400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr22:29212600-29216400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr22:29212800-29215800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr22:29212800-29216000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr22:29213000-29215000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr22:29213000-29215800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr22:29213600-29216000	Enhancers	Placenta	Placenta
33	chr22:29213600-29216000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr22:29213600-29216400	Enhancers	Fetal Intestine Large	intestine
35	chr22:29213600-29216400	Enhancers	Fetal Intestine Small	intestine
36	chr22:29213600-29220600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr22:29213800-29215000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr22:29213800-29216000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr22:29213800-29216200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr22:29213800-29216200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr22:29214000-29215000	Enhancers	Primary B cells from cord blood	blood
42	chr22:29214000-29215400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr22:29214000-29215800	Enhancers	Primary hematopoietic stem cells	blood
44	chr22:29214000-29216000	Enhancers	Primary B cells from peripheral blood	blood
45	chr22:29214000-29216000	Enhancers	Primary T cells from cord blood	blood
46	chr22:29214000-29216000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr22:29214000-29216200	Enhancers	Duodenum Mucosa	Duodenum
48	chr22:29214000-29216400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr22:29214000-29218600	Enhancers	Liver	Liver
50	chr22:29214000-29219200	Enhancers	Pancreas	Pancrea

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