Variant report

Variant	rs74135423
Chromosome Location	chr10:43429610-43429611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43426456..43429844-chr10:43434614..43436862,3	K562	blood:
2	chr10:43428250..43429844-chr10:43434863..43436862,2	K562	blood:
3	chr10:43428399..43431040-chr10:43431143..43434536,4	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12569973	0.98[ASN][1000 genomes]
rs12572458	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572459	0.99[ASN][1000 genomes]
rs12572471	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158301	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158304	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58477795	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843422	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61843423	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61843424	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843425	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843426	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61843427	0.81[EUR][1000 genomes]
rs61843428	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843430	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61843431	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843432	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843434	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843435	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843439	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843440	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74135422	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74135424	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74135429	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs750328	0.96[ASN][1000 genomes]
rs7899660	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7900242	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7922188	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43428000-43429800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr10:43428000-43429800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr10:43428000-43429800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
4	chr10:43428400-43429800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:43428400-43429800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr10:43428400-43429800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr10:43428400-43429800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:43428400-43429800	Bivalent Enhancer	Fetal Stomach	stomach
9	chr10:43428400-43429800	Flanking Active TSS	Fetal Thymus	thymus
10	chr10:43428400-43430000	Enhancers	Gastric	stomach
11	chr10:43428600-43429800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:43428600-43429800	Bivalent Enhancer	Left Ventricle	heart
13	chr10:43428600-43429800	Bivalent Enhancer	Lung	lung
14	chr10:43428800-43429800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr10:43428800-43430000	Bivalent/Poised TSS	Colonic Mucosa	Colon
16	chr10:43428800-43430000	Enhancers	Pancreas	Pancrea
17	chr10:43429000-43429800	Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr10:43429000-43429800	Flanking Active TSS	Thymus	Thymus
19	chr10:43429000-43430000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
20	chr10:43429200-43429800	Enhancers	Primary hematopoietic stem cells	blood
21	chr10:43429200-43429800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:43429200-43429800	Bivalent Enhancer	Liver	Liver
23	chr10:43429200-43429800	Bivalent Enhancer	Brain Angular Gyrus	brain
24	chr10:43429200-43429800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr10:43429200-43430000	Bivalent Enhancer	Right Ventricle	heart
26	chr10:43429200-43430400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr10:43429400-43429800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
28	chr10:43429400-43429800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr10:43429400-43429800	Bivalent Enhancer	Fetal Heart	heart
30	chr10:43429400-43430000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr10:43429400-43430400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr10:43429400-43430400	Enhancers	Spleen	Spleen
33	chr10:43429600-43429800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr10:43429600-43429800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:43429600-43429800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr10:43429600-43429800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr10:43429600-43429800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
38	chr10:43429600-43429800	Enhancers	Primary B cells from cord blood	blood
39	chr10:43429600-43429800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr10:43429600-43429800	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr10:43429600-43430000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:43429600-43430000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr10:43429600-43430800	Enhancers	Fetal Muscle Leg	muscle

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