Variant report

Variant	rs28742998
Chromosome Location	chr8:19376920-19376921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10087317	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10087663	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10088450	1.00[AMR][1000 genomes]
rs10094142	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10096485	1.00[AMR][1000 genomes]
rs10096490	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10096638	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10097851	1.00[AMR][1000 genomes]
rs10101907	1.00[AMR][1000 genomes]
rs10104615	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104968	1.00[AMR][1000 genomes]
rs10106180	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10106270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10107181	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10109345	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128520	1.00[AMR][1000 genomes]
rs17128532	1.00[AMR][1000 genomes]
rs17128535	1.00[AMR][1000 genomes]
rs17128545	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128641	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128662	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128691	1.00[AMR][1000 genomes]
rs17128714	1.00[AMR][1000 genomes]
rs17128743	1.00[AMR][1000 genomes]
rs17128745	1.00[AMR][1000 genomes]
rs17128792	1.00[AMR][1000 genomes]
rs17128803	1.00[AMR][1000 genomes]
rs17128811	1.00[AMR][1000 genomes]
rs28415838	1.00[AMR][1000 genomes]
rs28427117	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28457744	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28491635	1.00[AMR][1000 genomes]
rs28578312	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28607676	1.00[AMR][1000 genomes]
rs28661517	1.00[AMR][1000 genomes]
rs28713671	1.00[AMR][1000 genomes]
rs28738093	1.00[AMR][1000 genomes]
rs7817946	1.00[AMR][1000 genomes]
rs7821215	1.00[AMR][1000 genomes]
rs7821389	1.00[AMR][1000 genomes]
rs7821612	1.00[AMR][1000 genomes]
rs7824941	1.00[AMR][1000 genomes]
rs7839912	1.00[AMR][1000 genomes]
rs7840172	1.00[AMR][1000 genomes]
rs7843893	1.00[AMR][1000 genomes]
rs9325858	0.81[AFR][1000 genomes];1.00[AMR][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	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv890623	chr8:19307051-19383697	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv1018057	chr8:19370830-19435399	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1016276	chr8:19374998-19435147	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19367000-19385000	Weak transcription	Ovary	ovary
2	chr8:19370800-19381200	Weak transcription	Fetal Stomach	stomach
3	chr8:19370800-19385000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:19371200-19380000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:19371800-19378400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:19373000-19380600	Weak transcription	Lung	lung
7	chr8:19373200-19377600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:19373400-19381600	Weak transcription	Spleen	Spleen
9	chr8:19373400-19382000	Weak transcription	Pancreas	Pancrea
10	chr8:19373600-19378400	Weak transcription	Placenta	Placenta
11	chr8:19373600-19382000	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:19373600-19382200	Weak transcription	Gastric	stomach
13	chr8:19373800-19380000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:19374000-19379800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:19374000-19382200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:19374400-19377200	Weak transcription	Right Ventricle	heart
17	chr8:19374400-19380200	Strong transcription	A549	lung
18	chr8:19374400-19385400	Weak transcription	Thymus	Thymus
19	chr8:19374600-19382400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:19375000-19377200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:19375600-19390000	Weak transcription	Right Atrium	heart
22	chr8:19375800-19377000	Weak transcription	Primary B cells from cord blood	blood
23	chr8:19376200-19388000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr8:19376400-19377200	Strong transcription	Hela-S3	cervix
25	chr8:19376400-19377400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:19376400-19379000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr8:19376400-19380600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:19376400-19388400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:19376600-19377000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:19376600-19378200	Weak transcription	Primary T cells from cord blood	blood
31	chr8:19376800-19377000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:19376800-19377600	Enhancers	Left Ventricle	heart

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