Variant report

Variant	rs180816
Chromosome Location	chr22:23657980-23657981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:23657846..23658387-chr22:23727772..23728507,2	K562	blood:
2	chr22:23657499..23658384-chr22:23727787..23728714,3	MCF-7	breast:
3	chr22:23657902..23658403-chr22:23744575..23745126,2	K562	blood:

Variant related genes	Relation type
ENSG00000133519	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs131684	0.86[EUR][1000 genomes]
rs131686	0.86[EUR][1000 genomes]
rs131690	0.86[EUR][1000 genomes]
rs131691	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs131693	0.85[EUR][1000 genomes]
rs140507	0.86[EUR][1000 genomes]
rs28379041	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28405226	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
rs180816	BCR	cis	Thyroid	GTEx
rs180816	BCR,FBXW4P1,FLJ42953,LOC100287161,LOC644165	cis	brain	BrainEAC
rs180816	BCR	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23640200-23660200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:23643000-23658200	Weak transcription	GM12878-XiMat	blood
3	chr22:23645000-23659200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr22:23646000-23658400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr22:23646000-23664800	Weak transcription	HepG2	liver
6	chr22:23648000-23659200	Weak transcription	NHEK	skin
7	chr22:23648600-23658400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:23648800-23658600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr22:23649400-23658600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr22:23650400-23658200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:23652200-23658200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr22:23652400-23658000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:23652600-23658000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr22:23653600-23658000	Strong transcription	Thymus	Thymus
15	chr22:23653800-23658000	Strong transcription	Adipose Nuclei	Adipose
16	chr22:23653800-23658000	Strong transcription	Aorta	Aorta
17	chr22:23653800-23658000	Strong transcription	Lung	lung
18	chr22:23654000-23658000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr22:23654000-23658000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:23654200-23658000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr22:23654200-23658000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr22:23654200-23659200	Strong transcription	Fetal Intestine Small	intestine
23	chr22:23654600-23658400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:23654600-23661000	Weak transcription	HSMMtube	muscle
25	chr22:23654600-23667400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:23655400-23658000	Strong transcription	Fetal Thymus	thymus
27	chr22:23655600-23658800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr22:23655800-23658000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr22:23655800-23658000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr22:23656400-23667000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr22:23656400-23667000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr22:23656800-23659400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr22:23657000-23658000	Enhancers	HMEC	breast
34	chr22:23657000-23659400	Weak transcription	NHLF	lung
35	chr22:23657000-23660800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:23657200-23658800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:23657200-23658800	Weak transcription	Brain Substantia Nigra	brain
38	chr22:23657200-23659400	Weak transcription	Primary T cells from cord blood	blood
39	chr22:23657200-23659400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:23657200-23659400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr22:23657200-23659400	Weak transcription	Brain Angular Gyrus	brain
42	chr22:23657200-23659400	Weak transcription	Brain Hippocampus Middle	brain
43	chr22:23657200-23659400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr22:23657200-23661600	Weak transcription	Left Ventricle	heart
45	chr22:23657200-23662600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:23657400-23667400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr22:23657400-23667400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr22:23657600-23658000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr22:23657600-23658000	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr22:23657600-23658000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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