Variant report

Variant	rs11252222
Chromosome Location	chr10:4017659-4017660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:4017109..4020587-chr10:4022770..4025732,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10795115	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10795116	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10795117	0.88[EUR][1000 genomes]
rs10795118	0.88[EUR][1000 genomes]
rs10904153	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10904163	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10904164	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10904165	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11252218	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11252232	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11252238	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11252240	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11252241	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11252242	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11252243	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2031578	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2148188	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2148189	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34133718	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4242767	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4880652	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4880653	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7072577	0.86[EUR][1000 genomes]
rs7079191	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7920244	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7922194	0.94[AMR][1000 genomes];0.96[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	nsv1043680	chr10:3551191-4038002	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv1051297	chr10:3908706-4277678	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	nsv894784	chr10:3985194-4051081	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv5609	chr10:4002849-4040114	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4002200-4022000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:4011200-4019200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr10:4013200-4019800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:4013200-4020000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:4013400-4019800	Weak transcription	HMEC	breast
6	chr10:4014600-4019800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr10:4015400-4022200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:4015600-4021000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:4015800-4018800	Weak transcription	NHDF-Ad	bronchial
10	chr10:4015800-4019200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:4016000-4018200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr10:4016200-4018000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr10:4016200-4018400	Weak transcription	Primary T cells from cord blood	blood
14	chr10:4016200-4018800	Weak transcription	Dnd41	blood
15	chr10:4016600-4018200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr10:4016600-4020400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr10:4016800-4017800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:4016800-4017800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr10:4016800-4018200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr10:4016800-4018200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:4016800-4018200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr10:4016800-4018200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr10:4017200-4018000	Enhancers	Fetal Muscle Trunk	muscle
24	chr10:4017200-4019800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:4017400-4017800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:4017400-4019600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr10:4017400-4025200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:4017400-4025400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:4017600-4018000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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