Variant report

Variant	rs2267168
Chromosome Location	chr22:31643480-31643481
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr22:31643474-31643776	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr22:31643427-31644989	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr22:31643438-31643535	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31642122..31645635-chr22:31666318..31668990,3	MCF-7	breast:
2	chr22:31642936..31645707-chr22:31684888..31688055,3	MCF-7	breast:
3	chr22:31643031..31646502-chr22:31653237..31655706,4	MCF-7	breast:
4	chr22:31642721..31645848-chr22:31739450..31742880,5	MCF-7	breast:
5	chr22:31642310..31646378-chr22:31653276..31655946,3	MCF-7	breast:

No data

Variant related genes	Relation type
LIMK2	TF binding region
ENSG00000213888	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10483159	1.00[EUR][1000 genomes]
rs11089493	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11089501	1.00[EUR][1000 genomes]
rs11089502	1.00[EUR][1000 genomes]
rs11089503	1.00[EUR][1000 genomes]
rs11089504	1.00[EUR][1000 genomes]
rs12165685	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12168242	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12484282	0.83[ASN][1000 genomes]
rs12484775	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12484966	1.00[EUR][1000 genomes]
rs12485176	1.00[EUR][1000 genomes]
rs12485177	1.00[EUR][1000 genomes]
rs17220418	0.87[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs17820958	0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17821132	1.00[EUR][1000 genomes]
rs1859677	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1968024	1.00[EUR][1000 genomes]
rs2057951	0.86[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs2073856	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2073859	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073860	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073861	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2074734	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2158779	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2240424	0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240427	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2273248	1.00[EUR][1000 genomes]
rs2283882	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2295240	1.00[GIH][hapmap]
rs28678535	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28872513	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2899161	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs3747153	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3747154	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3747155	1.00[EUR][1000 genomes]
rs3761430	0.90[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs3788434	1.00[EUR][1000 genomes]
rs4293639	0.85[ASN][1000 genomes]
rs5749222	0.90[JPT][hapmap]
rs5749225	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs5749230	0.95[ASN][1000 genomes]
rs5749233	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749235	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5749236	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749239	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5749241	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5749247	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749252	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5749255	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5749257	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5749258	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5749262	1.00[EUR][1000 genomes]
rs5749263	1.00[EUR][1000 genomes]
rs5753485	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs5753494	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[ASN][1000 genomes]
rs5753495	0.95[CHB][hapmap];0.93[JPT][hapmap]
rs5753502	0.88[ASN][1000 genomes]
rs5753506	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753509	0.81[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753511	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753512	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753513	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753516	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753519	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753523	0.94[ASN][1000 genomes]
rs5753525	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753527	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753529	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753532	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753534	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753535	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753540	0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753542	0.97[ASN][1000 genomes]
rs5753554	0.86[ASN][1000 genomes]
rs5753555	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753556	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753561	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5753566	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753569	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753571	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753572	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5753574	1.00[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs57775002	0.82[ASN][1000 genomes]
rs58856347	1.00[EUR][1000 genomes]
rs59416609	1.00[EUR][1000 genomes]
rs5994386	0.85[ASN][1000 genomes]
rs5997893	0.86[JPT][hapmap]
rs5997921	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs5997959	0.86[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap]
rs713619	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7286926	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7292620	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73396257	1.00[EUR][1000 genomes]
rs8135417	0.90[JPT][hapmap]
rs874356	0.90[JPT][hapmap]
rs9619178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9621212	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[ASN][1000 genomes]
rs9621215	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9621220	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9621226	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9621236	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9621247	1.00[EUR][1000 genomes]
rs9621252	1.00[EUR][1000 genomes]
rs9621261	1.00[EUR][1000 genomes]
rs9621264	1.00[EUR][1000 genomes]
rs9621265	1.00[EUR][1000 genomes]
rs9621270	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31626600-31643800	Weak transcription	Left Ventricle	heart
2	chr22:31626600-31643800	Weak transcription	Spleen	Spleen
3	chr22:31628000-31643800	Weak transcription	Brain Hippocampus Middle	brain
4	chr22:31631600-31643800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr22:31634400-31643800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr22:31634800-31643600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr22:31636200-31643800	Weak transcription	Fetal Lung	lung
8	chr22:31636200-31644200	Weak transcription	Ovary	ovary
9	chr22:31637800-31643800	Weak transcription	Adipose Nuclei	Adipose
10	chr22:31637800-31643800	Weak transcription	Pancreas	Pancrea
11	chr22:31638200-31643600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr22:31638200-31643600	Weak transcription	Dnd41	blood
13	chr22:31638400-31643800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr22:31639400-31644000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr22:31639600-31644200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:31639800-31643600	Weak transcription	Primary T cells from cord blood	blood
17	chr22:31639800-31643800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:31640000-31643600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr22:31640000-31643800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr22:31640200-31643800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:31640200-31643800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:31640200-31643800	Weak transcription	Right Atrium	heart
23	chr22:31640400-31643600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr22:31640600-31643600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr22:31640600-31643800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr22:31640600-31643800	Weak transcription	Esophagus	oesophagus
27	chr22:31640600-31643800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr22:31640600-31644400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr22:31640800-31643600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:31640800-31643800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:31640800-31643800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:31640800-31643800	Weak transcription	K562	blood
33	chr22:31641000-31643600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr22:31641000-31643600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr22:31641000-31643600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr22:31641000-31643600	Weak transcription	Colon Smooth Muscle	Colon
37	chr22:31641000-31643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr22:31641000-31643800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr22:31641000-31643800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr22:31641000-31643800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr22:31641000-31643800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr22:31641000-31643800	Weak transcription	Fetal Heart	heart
43	chr22:31641000-31643800	Weak transcription	Fetal Stomach	stomach
44	chr22:31641000-31643800	Weak transcription	NHLF	lung
45	chr22:31641000-31644200	Weak transcription	Psoas Muscle	Psoas
46	chr22:31641200-31643600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr22:31641200-31643600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr22:31641200-31643600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr22:31641200-31643600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr22:31641200-31643600	Weak transcription	Rectal Smooth Muscle	rectum

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