Variant report

Variant	rs2267013
Chromosome Location	chr22:23545879-23545880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:23539305..23541025-chr22:23545447..23547177,2	MCF-7	breast:
2	chr22:23543179..23545939-chr22:23560834..23562452,2	MCF-7	breast:
3	chr22:23537450..23540017-chr22:23544428..23546912,2	MCF-7	breast:
4	chr22:23537013..23539168-chr22:23545643..23548469,2	MCF-7	breast:
5	chr22:23545631..23548441-chr22:23603953..23606039,2	MCF-7	breast:
6	chr22:23545762..23547957-chr22:23547982..23550175,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186716	Chromatin interaction
ENSG00000230701	Chromatin interaction
ENSG00000240160	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2071431	0.82[GIH][hapmap]
rs2156921	0.89[JPT][hapmap]
rs2256725	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2267009	0.89[GIH][hapmap]
rs2267016	0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3761418	0.84[GIH][hapmap]
rs4820541	0.84[GIH][hapmap]
rs4820542	0.89[GIH][hapmap]
rs5751603	0.84[GIH][hapmap]
rs5751604	0.85[CHB][hapmap];0.87[ASN][1000 genomes]
rs5751611	0.89[JPT][hapmap]
rs5759611	0.84[GIH][hapmap]
rs5759631	0.84[GIH][hapmap]
rs5759646	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5759653	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs762601	0.89[JPT][hapmap]
rs877590	0.89[JPT][hapmap]
rs9624019	0.92[CEU][hapmap]
rs9624056	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong 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	101 gene(s)	inside rSNPs	diseases
2	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
3	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
4	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	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
8	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS 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	97 gene(s)	inside rSNPs	diseases
9	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	97 gene(s)	inside rSNPs	diseases
10	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	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
16	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
17	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
18	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
19	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
20	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
22	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
23	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
24	nsv588598	chr22:23530168-23638025	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2267013	BCR	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23526000-23546000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr22:23526200-23546800	Weak transcription	Colonic Mucosa	Colon
3	chr22:23526400-23560800	Weak transcription	A549	lung
4	chr22:23527000-23547200	Weak transcription	Fetal Kidney	kidney
5	chr22:23527200-23547000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr22:23529600-23552800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr22:23530400-23558800	Weak transcription	Small Intestine	intestine
8	chr22:23530600-23557200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr22:23535000-23556000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr22:23535800-23559400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr22:23536000-23557200	Weak transcription	Hela-S3	cervix
12	chr22:23536200-23549800	Weak transcription	GM12878-XiMat	blood
13	chr22:23536400-23557600	Weak transcription	NHLF	lung
14	chr22:23536400-23557800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr22:23536600-23546600	Weak transcription	HMEC	breast
16	chr22:23536600-23557600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:23538400-23547400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr22:23539000-23546200	Weak transcription	Fetal Brain Male	brain
19	chr22:23540800-23546200	Weak transcription	Primary B cells from cord blood	blood
20	chr22:23541600-23546800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr22:23541800-23546000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:23541800-23546000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:23541800-23548200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:23542000-23552600	Strong transcription	K562	blood
25	chr22:23542000-23554000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:23542000-23554400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr22:23542200-23557200	Weak transcription	NH-A	brain
28	chr22:23542400-23546000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr22:23542400-23546000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr22:23542400-23546000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr22:23542400-23547000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:23542400-23549800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:23542400-23552600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:23542400-23557600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr22:23543600-23546000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:23543600-23546000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr22:23543600-23546800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:23543600-23546800	Weak transcription	Stomach Mucosa	stomach
39	chr22:23543600-23552200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr22:23544000-23546600	Strong transcription	HepG2	liver
41	chr22:23544400-23550600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:23544600-23546800	Strong transcription	Fetal Thymus	thymus
43	chr22:23544600-23548200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:23544800-23554400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr22:23545000-23546800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr22:23545000-23546800	Strong transcription	Fetal Intestine Small	intestine
47	chr22:23545000-23553200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr22:23545200-23546200	Strong transcription	Rectal Smooth Muscle	rectum
49	chr22:23545200-23546400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr22:23545200-23546800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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