Variant report

Variant	rs2267223
Chromosome Location	chr22:33909323-33909324
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33908671..33911236-chr22:34314506..34317499,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11704444	0.81[JPT][hapmap]
rs11704460	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1540299	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1807492	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2267221	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[EUR][1000 genomes]
rs2267222	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[EUR][1000 genomes]
rs2267225	0.96[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2267226	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2267227	0.96[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2899209	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4820107	0.82[JPT][hapmap]
rs4821157	0.96[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs4821158	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs5749622	0.87[EUR][1000 genomes]
rs5749623	0.91[CHB][hapmap]
rs5749624	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs5754581	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5754585	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754587	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5754588	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs5754589	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs5754590	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs5754591	0.91[ASN][1000 genomes]
rs5754592	0.95[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs5754594	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs5754596	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs5754601	0.81[JPT][hapmap]
rs5998999	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs7289066	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv914983	chr22:33800119-34035034	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1060283	chr22:33809137-34043739	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv544684	chr22:33809137-34043739	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1057547	chr22:33810445-33939474	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1055791	chr22:33822226-34159536	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1065417	chr22:33823850-34053325	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
13	nsv933309	chr22:33825232-34053000	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
14	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1063275	chr22:33847076-33934464	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv917167	chr22:33852676-34137036	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv2751963	chr22:33855512-33935897	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1065776	chr22:33860774-33934464	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1062832	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv544686	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1064943	chr22:33862239-33934464	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1063011	chr22:33863218-33934464	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv914986	chr22:33863218-33967289	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv1067480	chr22:33865381-33934464	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv459877	chr22:33866854-33932624	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv588932	chr22:33866854-33932624	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv1066694	chr22:33868123-33928973	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv544687	chr22:33868123-33928973	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	esv2758541	chr22:33868945-33909546	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv2758832	chr22:33868945-33909546	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	nsv1060320	chr22:33875165-33911764	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	nsv544688	chr22:33875165-33911764	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33885000-33915200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr22:33889200-33915000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr22:33893800-33915000	Weak transcription	GM12878-XiMat	blood
4	chr22:33901400-33911800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:33903000-33911200	Weak transcription	Right Ventricle	heart
6	chr22:33903200-33909400	Weak transcription	Brain Angular Gyrus	brain
7	chr22:33904400-33909400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:33904800-33915200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:33905400-33917200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:33906400-33935800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr22:33906600-33920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:33906800-33911600	Weak transcription	Fetal Intestine Large	intestine
13	chr22:33906800-33911800	Weak transcription	Gastric	stomach
14	chr22:33907000-33909800	Weak transcription	Stomach Mucosa	stomach
15	chr22:33908200-33909800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr22:33908600-33909800	Enhancers	Left Ventricle	heart
17	chr22:33908600-33917000	Enhancers	HepG2	liver
18	chr22:33908800-33910200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr22:33908800-33910200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:33909000-33909400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:33909000-33909600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:33909000-33909600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:33909000-33909600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:33909000-33909600	Enhancers	Aorta	Aorta
25	chr22:33909000-33909600	Enhancers	Fetal Stomach	stomach
26	chr22:33909000-33909600	Enhancers	Ovary	ovary
27	chr22:33909000-33909800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr22:33909000-33909800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr22:33909000-33909800	Enhancers	Colon Smooth Muscle	Colon
30	chr22:33909000-33910000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:33909000-33910000	Enhancers	Liver	Liver
32	chr22:33909000-33910200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr22:33909000-33910200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:33909000-33910200	Enhancers	Brain Cingulate Gyrus	brain
35	chr22:33909000-33910200	Enhancers	Brain Hippocampus Middle	brain
36	chr22:33909000-33910200	Enhancers	Fetal Heart	heart
37	chr22:33909000-33910200	Enhancers	Rectal Smooth Muscle	rectum
38	chr22:33909000-33910200	Enhancers	Stomach Smooth Muscle	stomach
39	chr22:33909000-33910200	Enhancers	NHDF-Ad	bronchial
40	chr22:33909200-33909400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr22:33909200-33909400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr22:33909200-33909400	Enhancers	Brain Anterior Caudate	brain
43	chr22:33909200-33909400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr22:33909200-33909400	Enhancers	Fetal Kidney	kidney
45	chr22:33909200-33909800	Enhancers	Adipose Nuclei	Adipose
46	chr22:33909200-33909800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:33909200-33910000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr22:33909200-33910200	Enhancers	Fetal Lung	lung

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