Variant report

Variant	rs62123450
Chromosome Location	chr2:20489596-20489597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20487646..20490086-chr2:20519151..20521903,2	K562	blood:
2	chr2:20475845..20477677-chr2:20489513..20491458,2	K562	blood:
3	chr2:20488466..20491101-chr2:20497992..20500712,2	K562	blood:
4	chr2:20482981..20486539-chr2:20487663..20489842,4	MCF-7	breast:
5	chr2:20489518..20491306-chr2:20498308..20500639,2	MCF-7	breast:
6	chr2:20421775..20427916-chr2:20486064..20491550,11	MCF-7	breast:
7	chr2:20487617..20489634-chr2:20494522..20496628,2	K562	blood:

Variant related genes	Relation type
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10153828	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10165087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10167509	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168575	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171025	1.00[ASN][1000 genomes]
rs10171861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174768	1.00[ASN][1000 genomes]
rs10176257	1.00[ASN][1000 genomes]
rs10177428	1.00[ASN][1000 genomes]
rs10178561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182156	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182834	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184976	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189781	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10194789	1.00[ASN][1000 genomes]
rs10195153	1.00[ASN][1000 genomes]
rs10195817	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198897	1.00[ASN][1000 genomes]
rs10204489	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206963	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10207798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208668	1.00[ASN][1000 genomes]
rs13390701	1.00[AMR][1000 genomes]
rs13391140	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13398963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409830	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421653	1.00[ASN][1000 genomes]
rs13425933	1.00[ASN][1000 genomes]
rs13426989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429586	1.00[ASN][1000 genomes]
rs28732678	1.00[ASN][1000 genomes]
rs55904622	1.00[ASN][1000 genomes]
rs56337814	0.89[AMR][1000 genomes]
rs57065686	1.00[ASN][1000 genomes]
rs57459161	1.00[ASN][1000 genomes]
rs58774661	1.00[ASN][1000 genomes]
rs59901600	1.00[ASN][1000 genomes]
rs60984167	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62111434	1.00[ASN][1000 genomes]
rs62111435	1.00[ASN][1000 genomes]
rs62111436	1.00[ASN][1000 genomes]
rs62111437	1.00[ASN][1000 genomes]
rs62111439	1.00[ASN][1000 genomes]
rs62123438	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123439	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123441	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123443	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123444	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123445	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123446	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123451	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62123453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123456	1.00[ASN][1000 genomes]
rs62123458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124592	1.00[ASN][1000 genomes]
rs62124596	1.00[ASN][1000 genomes]
rs62124597	1.00[ASN][1000 genomes]
rs62124598	1.00[ASN][1000 genomes]
rs62124599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124603	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62124604	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715475	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744963	1.00[ASN][1000 genomes]
rs73214391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214393	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218122	1.00[ASN][1000 genomes]
rs73218124	1.00[ASN][1000 genomes]
rs73218129	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73218135	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7565347	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589484	1.00[ASN][1000 genomes]
rs759220	1.00[ASN][1000 genomes]
rs759221	1.00[ASN][1000 genomes]
rs9653390	1.00[ASN][1000 genomes]
rs9808229	1.00[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	nsv524207	chr2:20448561-20503436	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999153	chr2:20467929-20521954	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1005366	chr2:20478859-20542134	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20442000-20491000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:20454200-20490800	Weak transcription	Right Ventricle	heart
3	chr2:20454200-20491000	Weak transcription	Gastric	stomach
4	chr2:20454200-20491000	Weak transcription	Spleen	Spleen
5	chr2:20454200-20499600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:20458000-20491000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:20460200-20528600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:20465600-20500400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:20466000-20530400	Strong transcription	Fetal Thymus	thymus
10	chr2:20467000-20522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:20467200-20526200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:20467600-20490600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:20467800-20491400	Weak transcription	Lung	lung
14	chr2:20471800-20522600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:20471800-20533800	Strong transcription	Dnd41	blood
16	chr2:20472000-20491800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:20474600-20528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:20475400-20522400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:20476200-20514400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:20476400-20491000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:20476400-20492800	Strong transcription	GM12878-XiMat	blood
22	chr2:20476400-20500000	Strong transcription	Placenta	Placenta
23	chr2:20476400-20521000	Strong transcription	Fetal Intestine Large	intestine
24	chr2:20476600-20490600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:20476600-20490600	Strong transcription	Primary hematopoietic stem cells	blood
26	chr2:20476600-20492000	Strong transcription	Primary B cells from cord blood	blood
27	chr2:20476600-20500600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:20476600-20516400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:20476600-20524800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:20476600-20526600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:20476800-20490400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr2:20476800-20491000	Strong transcription	HepG2	liver
33	chr2:20476800-20516800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr2:20478600-20516600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:20480000-20491000	Weak transcription	Fetal Heart	heart
36	chr2:20480400-20515400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr2:20481000-20491000	Weak transcription	Aorta	Aorta
38	chr2:20481800-20494800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:20482200-20496600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:20483000-20489800	Weak transcription	Brain Germinal Matrix	brain
41	chr2:20483000-20490000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:20483000-20491000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:20483000-20496400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:20483000-20496600	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:20483200-20490400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:20483200-20490800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:20483200-20490800	Weak transcription	Pancreas	Pancrea
48	chr2:20483200-20491000	Weak transcription	Esophagus	oesophagus
49	chr2:20483200-20498400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:20483200-20499000	Weak transcription	Placenta Amnion	Placenta Amnion

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