Variant report

Variant	rs298623
Chromosome Location	chr8:130848415-130848416
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130847403..130850109-chr8:130853585..130856096,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10092357	0.80[ASN][1000 genomes]
rs10111157	0.80[ASN][1000 genomes]
rs1600794	0.80[ASN][1000 genomes]
rs17190932	0.87[ASN][1000 genomes]
rs1842793	0.87[ASN][1000 genomes]
rs2086639	0.87[ASN][1000 genomes]
rs2086640	0.87[ASN][1000 genomes]
rs2101163	0.87[ASN][1000 genomes]
rs2624801	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28558572	0.80[ASN][1000 genomes]
rs28855534	0.80[ASN][1000 genomes]
rs28892959	0.80[ASN][1000 genomes]
rs3885952	0.80[ASN][1000 genomes]
rs390079	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3963418	0.87[ASN][1000 genomes]
rs4385436	0.80[ASN][1000 genomes]
rs4733558	0.80[ASN][1000 genomes]
rs4733559	0.80[ASN][1000 genomes]
rs59192669	0.87[ASN][1000 genomes]
rs60977383	0.87[ASN][1000 genomes]
rs61071273	0.87[ASN][1000 genomes]
rs9297800	0.80[ASN][1000 genomes]
rs967974	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130838600-130852200	Weak transcription	Psoas Muscle	Psoas
2	chr8:130838800-130852200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:130839000-130852200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:130839000-130860200	Weak transcription	Fetal Intestine Small	intestine
5	chr8:130839200-130882000	Weak transcription	Right Ventricle	heart
6	chr8:130839400-130852600	Weak transcription	Fetal Intestine Large	intestine
7	chr8:130844800-130852200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:130845600-130851400	Weak transcription	A549	lung
9	chr8:130845600-130882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:130845800-130850800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:130845800-130852000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:130846000-130882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:130846200-130853000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:130846400-130852600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:130846400-130852800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:130846400-130852800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:130846400-130881800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:130846600-130854000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:130847200-130851200	Weak transcription	Fetal Brain Male	brain
20	chr8:130847200-130851800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:130847600-130855200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:130847800-130851400	Weak transcription	Thymus	Thymus
23	chr8:130847800-130852000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:130847800-130852000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:130847800-130852000	Weak transcription	HUVEC	blood vessel
26	chr8:130847800-130854200	Weak transcription	K562	blood
27	chr8:130847800-130855600	Weak transcription	Pancreas	Pancrea
28	chr8:130847800-130863800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:130848400-130852000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:130848400-130852400	Weak transcription	HMEC	breast
31	chr8:130848400-130854600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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