Variant report

Variant	rs60140341
Chromosome Location	chr8:62417686-62417687
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	chr8:62411280..62413596-chr8:62416283..62419042,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11539105	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11987270	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11987285	1.00[EUR][1000 genomes]
rs11993631	0.83[AFR][1000 genomes]
rs56947738	1.00[AMR][1000 genomes]
rs57787482	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57869223	1.00[EUR][1000 genomes]
rs58092797	1.00[EUR][1000 genomes]
rs58250124	1.00[EUR][1000 genomes]
rs58325626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59038492	1.00[EUR][1000 genomes]
rs59721840	1.00[EUR][1000 genomes]
rs59924634	1.00[EUR][1000 genomes]
rs60272015	1.00[EUR][1000 genomes]
rs61565764	1.00[EUR][1000 genomes]
rs61704340	1.00[EUR][1000 genomes]
rs6987677	1.00[EUR][1000 genomes]
rs6993580	1.00[EUR][1000 genomes]
rs7016371	1.00[EUR][1000 genomes]
rs73259354	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259357	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259365	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259370	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259374	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259381	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259382	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259398	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259402	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73261103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73261115	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263168	1.00[EUR][1000 genomes]
rs73263187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73682259	1.00[EUR][1000 genomes]
rs73682260	1.00[EUR][1000 genomes]
rs73682269	1.00[EUR][1000 genomes]
rs7830460	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv521898	chr8:62364663-62419120	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62408600-62427800	Weak transcription	Fetal Intestine Large	intestine
2	chr8:62408600-62430800	Weak transcription	Fetal Brain Male	brain
3	chr8:62408800-62427600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:62408800-62432000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:62409000-62427800	Weak transcription	HMEC	breast
6	chr8:62409200-62426000	Weak transcription	Fetal Intestine Small	intestine
7	chr8:62409400-62421200	Weak transcription	Brain Anterior Caudate	brain
8	chr8:62410600-62420400	Weak transcription	Gastric	stomach
9	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
10	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:62411400-62422200	Weak transcription	Spleen	Spleen
12	chr8:62411600-62429800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:62412000-62418800	Strong transcription	NHDF-Ad	bronchial
14	chr8:62412000-62426000	Strong transcription	Adipose Nuclei	Adipose
15	chr8:62412000-62455600	Strong transcription	A549	lung
16	chr8:62412200-62420400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:62412200-62420400	Weak transcription	Lung	lung
18	chr8:62412400-62428000	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:62412600-62418200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:62412600-62419200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:62412600-62425800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:62412600-62428200	Weak transcription	HepG2	liver
23	chr8:62412800-62417800	Strong transcription	HSMM	muscle
24	chr8:62412800-62419600	Strong transcription	NH-A	brain
25	chr8:62412800-62438800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:62413400-62428200	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:62413400-62436000	Weak transcription	Small Intestine	intestine
28	chr8:62413800-62429600	Weak transcription	HSMMtube	muscle
29	chr8:62414000-62420400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:62414000-62421800	Strong transcription	Osteobl	bone
31	chr8:62414200-62418000	Weak transcription	Ovary	ovary
32	chr8:62414200-62428000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:62414200-62428200	Weak transcription	Brain Substantia Nigra	brain
34	chr8:62414200-62455400	Weak transcription	Fetal Lung	lung
35	chr8:62414400-62419200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr8:62414400-62419600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:62414400-62420400	Weak transcription	Fetal Stomach	stomach
38	chr8:62414400-62420600	Weak transcription	Brain Germinal Matrix	brain
39	chr8:62414400-62424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:62414400-62429800	Weak transcription	Colonic Mucosa	Colon
41	chr8:62414600-62420600	Strong transcription	NHLF	lung
42	chr8:62414600-62424600	Weak transcription	K562	blood
43	chr8:62414600-62448800	Weak transcription	HUVEC	blood vessel
44	chr8:62414800-62419200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:62414800-62419400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
47	chr8:62415000-62430400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:62415400-62426400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:62415600-62430800	Strong transcription	Liver	Liver
50	chr8:62415600-62437200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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