Variant report

Variant	rs34133016
Chromosome Location	chr8:42718597-42718598
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	chr8:42718457..42720183-chr8:42723396..42725513,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs13248091	1.00[AFR][1000 genomes]
rs13249741	1.00[AFR][1000 genomes]
rs13252221	1.00[AFR][1000 genomes]
rs13256221	1.00[AFR][1000 genomes]
rs13260731	1.00[AFR][1000 genomes]
rs13269584	1.00[AFR][1000 genomes]
rs13271956	1.00[AFR][1000 genomes]
rs13273189	1.00[AFR][1000 genomes]
rs13273989	1.00[AFR][1000 genomes]
rs13276821	1.00[AFR][1000 genomes]
rs13281651	1.00[AFR][1000 genomes]
rs13282019	1.00[AFR][1000 genomes]
rs17622577	1.00[AFR][1000 genomes]
rs17622732	1.00[AFR][1000 genomes]
rs34044853	1.00[AFR][1000 genomes]
rs34046390	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34143633	1.00[AFR][1000 genomes]
rs34152125	1.00[AFR][1000 genomes]
rs34208103	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34210297	1.00[AFR][1000 genomes]
rs34242561	1.00[AFR][1000 genomes]
rs34320052	1.00[AFR][1000 genomes]
rs34550994	1.00[AFR][1000 genomes]
rs34582788	1.00[AFR][1000 genomes]
rs34920666	1.00[AFR][1000 genomes]
rs35236316	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35258203	1.00[AFR][1000 genomes]
rs35278935	1.00[AFR][1000 genomes]
rs35316170	1.00[AFR][1000 genomes]
rs35390123	1.00[AFR][1000 genomes]
rs35441746	1.00[AFR][1000 genomes]
rs35491765	1.00[AFR][1000 genomes]
rs35823486	1.00[AFR][1000 genomes]
rs35970125	1.00[AFR][1000 genomes]
rs35984555	1.00[AFR][1000 genomes]
rs36026629	1.00[AFR][1000 genomes]
rs36091568	1.00[AFR][1000 genomes]
rs62515895	1.00[AFR][1000 genomes]
rs62515900	1.00[AFR][1000 genomes]
rs62515905	1.00[AFR][1000 genomes]
rs62515908	1.00[AFR][1000 genomes]
rs62515909	1.00[AFR][1000 genomes]
rs62515910	1.00[AFR][1000 genomes]
rs62515912	1.00[AFR][1000 genomes]
rs62515913	1.00[AFR][1000 genomes]
rs62515916	1.00[AFR][1000 genomes]
rs62515917	1.00[AFR][1000 genomes]
rs62515948	1.00[AFR][1000 genomes]
rs62515952	1.00[AFR][1000 genomes]
rs62517594	1.00[AFR][1000 genomes]
rs62517599	1.00[AFR][1000 genomes]
rs62517604	1.00[AFR][1000 genomes]
rs62517605	1.00[AFR][1000 genomes]
rs71521598	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
5	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42699200-42736400	Weak transcription	Thymus	Thymus
2	chr8:42699400-42728600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:42699400-42733200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:42699400-42741000	Weak transcription	HepG2	liver
5	chr8:42699400-42745800	Weak transcription	Fetal Heart	heart
6	chr8:42699400-42745800	Weak transcription	Small Intestine	intestine
7	chr8:42699400-42750600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:42699600-42724800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:42699600-42748600	Weak transcription	HMEC	breast
10	chr8:42704400-42719800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:42708200-42720400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:42708400-42731600	Strong transcription	Placenta	Placenta
13	chr8:42708400-42749000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:42708800-42733200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:42709000-42720000	Strong transcription	Adipose Nuclei	Adipose
16	chr8:42709000-42723600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:42710000-42719800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:42710000-42725800	Strong transcription	Fetal Intestine Large	intestine
19	chr8:42711200-42720200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:42711400-42720000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr8:42711400-42720000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr8:42711400-42720000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:42711400-42720000	Strong transcription	Fetal Muscle Leg	muscle
24	chr8:42711400-42720200	Strong transcription	Liver	Liver
25	chr8:42711400-42722200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:42711400-42722600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr8:42711400-42745800	Weak transcription	Stomach Mucosa	stomach
28	chr8:42711600-42720400	Strong transcription	Fetal Lung	lung
29	chr8:42711600-42748600	Weak transcription	Fetal Thymus	thymus
30	chr8:42711800-42719400	Strong transcription	Primary T cells from cord blood	blood
31	chr8:42711800-42719800	Strong transcription	Ovary	ovary
32	chr8:42711800-42720000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr8:42711800-42720400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:42711800-42722200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:42711800-42722400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:42712000-42725400	Strong transcription	Primary B cells from cord blood	blood
37	chr8:42712200-42719400	Strong transcription	Left Ventricle	heart
38	chr8:42712200-42720200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:42712600-42746000	Weak transcription	NHDF-Ad	bronchial
40	chr8:42712800-42720200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:42712800-42722200	Strong transcription	Fetal Intestine Small	intestine
42	chr8:42712800-42722200	Strong transcription	Fetal Stomach	stomach
43	chr8:42713000-42719600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:42713000-42720200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:42713000-42720200	Strong transcription	Lung	lung
46	chr8:42713200-42720000	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr8:42713200-42720000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:42713200-42745800	Weak transcription	HUVEC	blood vessel
49	chr8:42713400-42719400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr8:42713400-42719800	Strong transcription	Duodenum Mucosa	Duodenum

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