Variant report

Variant	rs62542299
Chromosome Location	chr8:48967250-48967251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56375502	1.00[AFR][1000 genomes]
rs62539156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62542301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62542305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv890850	chr8:48954143-49018790	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv890851	chr8:48954143-49031082	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1793797	chr8:48955683-48992093	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1798949	chr8:48960737-48976333	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv890852	chr8:48964607-49022082	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv890853	chr8:48964607-49031082	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1025169	chr8:48965133-49024711	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv1020050	chr8:48965133-49028634	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1033298	chr8:48965133-49048832	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48922400-48975400	Weak transcription	Fetal Brain Male	brain
2	chr8:48953200-48983400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:48953800-48974800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:48954600-48975200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:48954600-48975600	Weak transcription	Pancreas	Pancrea
6	chr8:48954800-48971800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:48954800-48975800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr8:48955000-48975000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:48955400-48969600	Strong transcription	Dnd41	blood
10	chr8:48955800-48975000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr8:48956000-48974800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:48956800-48973200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:48957200-48975400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:48957600-48974400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:48958000-48980600	Weak transcription	Small Intestine	intestine
16	chr8:48958200-48975600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:48959400-48969600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:48959400-48969600	Strong transcription	Liver	Liver
19	chr8:48959600-48973600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:48960400-48975800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:48960600-48967800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:48960800-48969400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:48960800-48973400	Weak transcription	Fetal Heart	heart
24	chr8:48961000-48975800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:48961000-48976800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:48962400-48967400	Strong transcription	Fetal Intestine Large	intestine
27	chr8:48962400-48975000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr8:48962600-48970800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:48962800-48967400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:48962800-48967400	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:48963000-48967600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:48963200-48967400	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:48964000-48974000	Weak transcription	Fetal Kidney	kidney
34	chr8:48964200-48973800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:48964200-48975600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:48964400-48968800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr8:48964400-48969200	Weak transcription	Thymus	Thymus
38	chr8:48964600-48970000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:48964800-48982400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:48964800-48986800	Weak transcription	NHEK	skin
41	chr8:48965400-48968800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr8:48965400-48971800	Weak transcription	Fetal Brain Female	brain
43	chr8:48965400-48972200	Weak transcription	HSMM	muscle
44	chr8:48965400-48972600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:48965400-48973000	Weak transcription	Osteobl	bone
46	chr8:48965400-48973200	Weak transcription	Brain Substantia Nigra	brain
47	chr8:48965400-48975400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:48965400-48976400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:48965400-48986400	Weak transcription	HSMMtube	muscle
50	chr8:48965400-48986400	Weak transcription	NHLF	lung

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