Variant report

Variant	rs62542301
Chromosome Location	chr8:48978955-48978956
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56375502	1.00[AFR][1000 genomes]
rs62542299	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];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48953200-48983400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:48958000-48980600	Weak transcription	Small Intestine	intestine
3	chr8:48964800-48982400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:48964800-48986800	Weak transcription	NHEK	skin
5	chr8:48965400-48986400	Weak transcription	HSMMtube	muscle
6	chr8:48965400-48986400	Weak transcription	NHLF	lung
7	chr8:48965400-48987800	Weak transcription	K562	blood
8	chr8:48965600-48982200	Weak transcription	Psoas Muscle	Psoas
9	chr8:48965600-48984200	Weak transcription	Esophagus	oesophagus
10	chr8:48965800-48979000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:48965800-48979600	Weak transcription	HepG2	liver
12	chr8:48965800-48981200	Weak transcription	Brain Anterior Caudate	brain
13	chr8:48965800-48982200	Weak transcription	Aorta	Aorta
14	chr8:48965800-48982200	Weak transcription	Right Ventricle	heart
15	chr8:48965800-48985000	Weak transcription	Gastric	stomach
16	chr8:48966200-48982200	Weak transcription	GM12878-XiMat	blood
17	chr8:48967200-48981400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:48967600-48981800	Weak transcription	HUVEC	blood vessel
19	chr8:48969600-48986000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:48969600-48987800	Weak transcription	Ovary	ovary
21	chr8:48972400-48980600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:48972400-48987000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:48972600-48979000	Weak transcription	Thymus	Thymus
24	chr8:48972600-48981400	Weak transcription	Lung	lung
25	chr8:48972600-48986200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:48972600-48986600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:48972800-48980800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:48973800-48982600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:48974000-48986200	Weak transcription	NH-A	brain
30	chr8:48974200-48980200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:48974200-48986000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:48974200-48987600	Weak transcription	Hela-S3	cervix
33	chr8:48974400-48986400	Weak transcription	HMEC	breast
34	chr8:48974800-48979400	Weak transcription	Osteobl	bone
35	chr8:48974800-48981600	Weak transcription	Dnd41	blood
36	chr8:48974800-48986600	Weak transcription	A549	lung
37	chr8:48975000-48979000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:48975000-48981400	Weak transcription	Brain Substantia Nigra	brain
39	chr8:48975000-48986600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:48975000-48988000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:48975200-48979000	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:48975200-48980600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:48975200-48981200	Weak transcription	Fetal Intestine Small	intestine
44	chr8:48975200-48981600	Weak transcription	Fetal Intestine Large	intestine
45	chr8:48975200-48981600	Weak transcription	Fetal Stomach	stomach
46	chr8:48975200-48986200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:48975200-48988800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:48975600-48979200	Weak transcription	Fetal Lung	lung
49	chr8:48975800-48979400	Weak transcription	Primary T cells from cord blood	blood
50	chr8:48975800-48980600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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