Variant report

Variant	rs2240424
Chromosome Location	chr22:31722886-31722887
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31717141..31720264-chr22:31721162..31724209,3	MCF-7	breast:
2	chr22:31685063..31688809-chr22:31720351..31723222,3	MCF-7	breast:
3	chr22:31722169..31724178-chr22:31726123..31728271,2	MCF-7	breast:
4	chr22:31685375..31688611-chr22:31722629..31725429,4	MCF-7	breast:
5	chr22:31719691..31721873-chr22:31722366..31726598,4	K562	blood:

Variant related genes	Relation type
ENSG00000100100	Chromatin interaction
ENSG00000228839	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10483159	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11089493	0.86[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.82[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	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12168242	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12484775	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12484966	1.00[EUR][1000 genomes]
rs12485176	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12485177	1.00[EUR][1000 genomes]
rs17220418	0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17820958	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17821132	1.00[EUR][1000 genomes]
rs1859677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1968024	1.00[EUR][1000 genomes]
rs2057951	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2073856	0.86[ASW][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.96[MKK][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2073859	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2073860	1.00[ASW][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2073861	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2074734	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs2158779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2240427	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2267168	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]
rs2273248	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2283882	0.80[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28678535	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28872513	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2899161	0.95[JPT][hapmap]
rs3747153	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3747154	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3747155	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3761430	0.86[JPT][hapmap]
rs3788434	1.00[EUR][1000 genomes]
rs4293639	0.89[ASN][1000 genomes]
rs5749222	0.86[JPT][hapmap]
rs5749225	0.81[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs5749230	0.82[ASN][1000 genomes]
rs5749233	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5749235	0.82[ASN][1000 genomes]
rs5749236	0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749239	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5749240	0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5749241	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs5749247	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749252	0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749255	1.00[ASW][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749257	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5749258	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749262	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5749263	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5753485	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs5753494	1.00[ASW][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5753495	0.93[JPT][hapmap]
rs5753506	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753509	0.81[JPT][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs5753511	0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753512	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753513	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753516	1.00[ASW][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753519	0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753523	0.82[ASN][1000 genomes]
rs5753525	0.83[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753526	0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753527	1.00[ASW][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753529	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753532	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753534	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753535	1.00[ASW][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753540	0.84[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753542	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5753554	0.90[ASN][1000 genomes]
rs5753555	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753556	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753561	0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5753566	1.00[ASW][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753569	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753571	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753572	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753574	0.91[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.97[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58659480	0.82[ASN][1000 genomes]
rs58856347	1.00[EUR][1000 genomes]
rs59416609	1.00[EUR][1000 genomes]
rs5994386	0.89[ASN][1000 genomes]
rs5997893	0.82[JPT][hapmap]
rs5997921	0.86[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs5997959	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs713619	0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7286926	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7292620	0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73396257	1.00[EUR][1000 genomes]
rs8135417	0.86[JPT][hapmap]
rs874356	0.86[JPT][hapmap]
rs9619178	0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9621212	1.00[ASW][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9621215	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9621220	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9621226	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9621236	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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]
rs9680708	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	esv3333136	chr22:31704947-31758417	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31709800-31725400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr22:31710000-31723000	Weak transcription	NHEK	skin
3	chr22:31710000-31724000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:31710000-31737000	Weak transcription	Fetal Heart	heart
5	chr22:31716400-31735600	Strong transcription	Primary T cells from cord blood	blood
6	chr22:31717000-31723000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr22:31717000-31731600	Strong transcription	Fetal Brain Female	brain
8	chr22:31717200-31735200	Strong transcription	Thymus	Thymus
9	chr22:31717200-31737600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:31717400-31730200	Strong transcription	Fetal Intestine Small	intestine
11	chr22:31717400-31733200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr22:31717400-31734400	Strong transcription	Brain Germinal Matrix	brain
13	chr22:31717600-31727400	Strong transcription	Primary B cells from cord blood	blood
14	chr22:31717600-31736800	Strong transcription	Fetal Thymus	thymus
15	chr22:31717800-31723200	Weak transcription	Aorta	Aorta
16	chr22:31717800-31732400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr22:31717800-31736000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:31718000-31731600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr22:31718000-31732800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr22:31718000-31736800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:31718000-31737800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:31718200-31724000	Strong transcription	Brain Hippocampus Middle	brain
23	chr22:31718200-31724600	Strong transcription	Fetal Muscle Leg	muscle
24	chr22:31718200-31735000	Strong transcription	Fetal Stomach	stomach
25	chr22:31718200-31735800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr22:31718200-31737600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr22:31718600-31735800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr22:31718800-31723400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr22:31718800-31732200	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr22:31718800-31733200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:31719000-31726600	Strong transcription	Fetal Intestine Large	intestine
32	chr22:31719000-31728000	Weak transcription	Osteobl	bone
33	chr22:31719000-31729400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr22:31719000-31729800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:31719000-31732800	Strong transcription	HepG2	liver
36	chr22:31719000-31733400	Strong transcription	Dnd41	blood
37	chr22:31719000-31733800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:31719000-31736000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr22:31719000-31738800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr22:31719200-31728400	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr22:31719400-31724200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr22:31719600-31725800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr22:31719600-31728200	Weak transcription	Hela-S3	cervix
44	chr22:31719600-31735400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr22:31719600-31737800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr22:31719600-31738200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr22:31719800-31725600	Weak transcription	NH-A	brain
48	chr22:31719800-31730200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr22:31719800-31735200	Strong transcription	Fetal Lung	lung
50	chr22:31719800-31738800	Strong transcription	Primary monocytes fromperipheralblood	blood

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