Variant report

Variant	rs60653339
Chromosome Location	chr10:4020440-4020441
allele	A/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: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10795119	1.00[EUR][1000 genomes]
rs11252156	1.00[EUR][1000 genomes]
rs11252200	1.00[EUR][1000 genomes]
rs17131879	1.00[EUR][1000 genomes]
rs1886945	1.00[EUR][1000 genomes]
rs2013181	1.00[EUR][1000 genomes]
rs2397396	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2478063	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2765652	1.00[EUR][1000 genomes]
rs2765655	1.00[EUR][1000 genomes]
rs2765661	1.00[EUR][1000 genomes]
rs2894883	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4480434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4634983	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4881268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4881270	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4881273	1.00[EUR][1000 genomes]
rs58922034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60224757	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6601795	1.00[EUR][1000 genomes]
rs7475801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7905449	1.00[EUR][1000 genomes]
rs7916530	1.00[EUR][1000 genomes]
rs943016	1.00[EUR][1000 genomes];0.89[ASN][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:35 , 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	chr10:4015400-4022200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr10:4015600-4021000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:4017400-4025200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:4017400-4025400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:4017800-4025200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr10:4018000-4024400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr10:4018200-4022800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:4018200-4024400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr10:4018200-4025200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr10:4018400-4021400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:4018800-4020600	Enhancers	NHDF-Ad	bronchial
13	chr10:4019000-4020600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:4019200-4021000	Weak transcription	Dnd41	blood
15	chr10:4019200-4021400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:4019600-4020800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr10:4019600-4020800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr10:4019600-4021200	Weak transcription	Primary T cells from cord blood	blood
19	chr10:4019800-4021200	Enhancers	NH-A	brain
20	chr10:4019800-4021600	Enhancers	HMEC	breast
21	chr10:4020000-4020600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:4020000-4020600	Enhancers	HSMM	muscle
23	chr10:4020000-4021200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr10:4020000-4021200	Enhancers	Osteobl	bone
25	chr10:4020000-4021400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:4020200-4021200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:4020200-4021400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:4020200-4021400	Enhancers	NHEK	skin
29	chr10:4020200-4021800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr10:4020200-4022000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr10:4020200-4025200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr10:4020200-4032600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:4020400-4020800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr10:4020400-4021400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr10:4020400-4022800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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