Variant report

Variant	rs180812
Chromosome Location	chr22:23657735-23657736
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	chr22:23657499..23658384-chr22:23727787..23728714,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs131701	0.90[ASN][1000 genomes]
rs131702	0.91[ASN][1000 genomes]
rs131703	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs140509	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs180797	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs180801	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs180805	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs180806	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs180809	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs180810	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs180811	0.89[EUR][1000 genomes]
rs180817	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs392389	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs440531	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4632463	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
3	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv9876	chr22:23563331-23923059	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv482557	chr22:23584948-23741799	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv531550	chr22:23589667-24012550	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	esv2762117	chr22:23592136-23996869	Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv1063476	chr22:23596683-23989388	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv544617	chr22:23596683-23989388	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv1059951	chr22:23597270-23973060	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv1060339	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv544618	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv1059384	chr22:23614429-23984195	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv544619	chr22:23614429-23984195	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
16	nsv588601	chr22:23632665-23979219	Bivalent Enhancer Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	esv17028	chr22:23649375-23672982	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv914578	chr22:23650987-23708020	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
19	nsv914579	chr22:23650987-23995056	Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
20	esv14387	chr22:23652469-23662024	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
21	nsv979654	chr22:23652511-23693612	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs180812	BCR	cis	Thyroid	GTEx
rs180812	BCR	cis	Stomach	GTEx
rs180812	BCR	cis	lung	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23635800-23657800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr22:23636600-23657800	Weak transcription	Hela-S3	cervix
3	chr22:23640200-23660200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:23643000-23658200	Weak transcription	GM12878-XiMat	blood
5	chr22:23645000-23659200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr22:23646000-23658400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr22:23646000-23664800	Weak transcription	HepG2	liver
8	chr22:23648000-23659200	Weak transcription	NHEK	skin
9	chr22:23648600-23658400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:23648800-23658600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:23649400-23658600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr22:23650400-23658200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:23652200-23658200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr22:23652400-23658000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr22:23652600-23658000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr22:23653600-23657800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr22:23653600-23657800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:23653600-23657800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr22:23653600-23658000	Strong transcription	Thymus	Thymus
20	chr22:23653800-23657800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:23653800-23657800	Strong transcription	Liver	Liver
22	chr22:23653800-23657800	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr22:23653800-23657800	Strong transcription	Fetal Brain Female	brain
24	chr22:23653800-23657800	Strong transcription	Gastric	stomach
25	chr22:23653800-23657800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr22:23653800-23657800	Strong transcription	Dnd41	blood
27	chr22:23653800-23658000	Strong transcription	Adipose Nuclei	Adipose
28	chr22:23653800-23658000	Strong transcription	Aorta	Aorta
29	chr22:23653800-23658000	Strong transcription	Lung	lung
30	chr22:23654000-23657800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr22:23654000-23657800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr22:23654000-23658000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr22:23654000-23658000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr22:23654200-23657800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:23654200-23657800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr22:23654200-23657800	Strong transcription	Pancreas	Pancrea
37	chr22:23654200-23658000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr22:23654200-23658000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr22:23654200-23659200	Strong transcription	Fetal Intestine Small	intestine
40	chr22:23654400-23657800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr22:23654600-23658400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:23654600-23661000	Weak transcription	HSMMtube	muscle
43	chr22:23654600-23667400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:23655200-23657800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr22:23655400-23657800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:23655400-23658000	Strong transcription	Fetal Thymus	thymus
47	chr22:23655600-23657800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr22:23655600-23657800	Strong transcription	Brain Germinal Matrix	brain
49	chr22:23655600-23658800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr22:23655800-23657800	Strong transcription	Colonic Mucosa	Colon

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