Variant report

Variant	rs2267016
Chromosome Location	chr22:23563980-23563981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:23522051..23524618-chr22:23563030..23565376,3	MCF-7	breast:
2	chr22:23523350..23525203-chr22:23562155..23564317,2	MCF-7	breast:
3	chr22:23561624..23565353-chr22:23567235..23570222,4	MCF-7	breast:
4	chr22:23533010..23534823-chr22:23562883..23564469,2	MCF-7	breast:
5	chr22:23562449..23565183-chr22:23566511..23568954,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236794	Chromatin interaction
ENSG00000186716	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2156921	0.84[CHD][hapmap];0.89[JPT][hapmap]
rs2256725	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267009	0.85[GIH][hapmap]
rs2267013	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	0.80[GIH][hapmap]
rs4820541	0.80[GIH][hapmap]
rs4820542	0.85[GIH][hapmap]
rs5751603	0.80[GIH][hapmap]
rs5751604	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs5751611	0.82[CHD][hapmap];0.89[JPT][hapmap]
rs5759611	0.80[GIH][hapmap]
rs5759631	0.80[GIH][hapmap]
rs5759646	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5759653	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs762601	0.82[CHD][hapmap];0.89[JPT][hapmap]
rs877590	0.89[JPT][hapmap]
rs9624019	0.83[CEU][hapmap]
rs9624056	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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
25	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2267016	BCR	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23552400-23564000	Enhancers	Right Ventricle	heart
2	chr22:23554000-23570200	Enhancers	Placenta	Placenta
3	chr22:23554000-23570200	Enhancers	Left Ventricle	heart
4	chr22:23554200-23564200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:23556400-23566600	Enhancers	Pancreas	Pancrea
6	chr22:23556400-23568400	Enhancers	Lung	lung
7	chr22:23557600-23569000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr22:23557600-23570200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr22:23557800-23564000	Enhancers	Brain Hippocampus Middle	brain
10	chr22:23557800-23568200	Enhancers	Spleen	Spleen
11	chr22:23558600-23564000	Enhancers	Esophagus	oesophagus
12	chr22:23558800-23564000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr22:23559000-23565600	Enhancers	HUVEC	blood vessel
14	chr22:23559400-23564000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr22:23559400-23564000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr22:23559600-23569200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:23560000-23568200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:23561000-23565800	Enhancers	Adipose Nuclei	Adipose
19	chr22:23561600-23570200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr22:23561800-23565200	Weak transcription	Ovary	ovary
21	chr22:23562000-23566000	Weak transcription	Fetal Kidney	kidney
22	chr22:23562000-23570200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr22:23562400-23564000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr22:23562400-23564000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr22:23562400-23564600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:23562400-23564800	Weak transcription	Fetal Brain Male	brain
27	chr22:23562400-23567600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:23562400-23570200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr22:23562400-23570200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr22:23562600-23565000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:23562600-23565400	Enhancers	Primary B cells from peripheral blood	blood
32	chr22:23562600-23570000	Enhancers	Brain Anterior Caudate	brain
33	chr22:23562600-23573000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr22:23562800-23564600	Weak transcription	HepG2	liver
35	chr22:23562800-23567400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr22:23562800-23569000	Enhancers	Primary hematopoietic stem cells	blood
37	chr22:23562800-23570200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr22:23562800-23570400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr22:23563000-23564000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr22:23563000-23564000	Enhancers	GM12878-XiMat	blood
41	chr22:23563000-23564400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr22:23563000-23564400	Weak transcription	Liver	Liver
43	chr22:23563000-23564600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr22:23563000-23565000	Enhancers	Hela-S3	cervix
45	chr22:23563000-23565200	Weak transcription	A549	lung
46	chr22:23563000-23565800	Enhancers	Thymus	Thymus
47	chr22:23563000-23566000	Enhancers	Fetal Thymus	thymus
48	chr22:23563000-23567200	Weak transcription	Colon Smooth Muscle	Colon
49	chr22:23563000-23567400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:23563000-23567600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links