Variant report

Variant	rs11997616
Chromosome Location	chr8:10889075-10889076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10886694..10889685-chr8:10905766..10907458,2	K562	blood:
2	chr8:10883944..10886637-chr8:10888412..10890996,2	K562	blood:
3	chr8:10887222..10889685-chr8:10905766..10908616,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10100449	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10101901	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10110123	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11250111	0.93[ASN][1000 genomes]
rs11996027	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11998417	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17722940	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2409683	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2898254	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35850128	0.97[EUR][1000 genomes]
rs35995832	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4076425	0.96[EUR][1000 genomes]
rs4349949	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6601550	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6983680	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7000431	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7820777	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7833741	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7845088	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1022434	chr8:10866242-10916523	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	esv3438938	chr8:10888542-10893040	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10874400-10892800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:10875000-10890000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:10879600-10890000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:10879600-10890400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:10879800-10890600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:10880000-10890200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:10880000-10896800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:10880200-10890400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:10880200-10890400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:10880200-10890600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:10881400-10893200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:10883400-10899600	Weak transcription	Brain Anterior Caudate	brain
13	chr8:10884400-10892800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:10887200-10890200	Weak transcription	Pancreas	Pancrea
15	chr8:10887800-10894800	Weak transcription	Fetal Stomach	stomach
16	chr8:10888200-10890200	Weak transcription	Gastric	stomach
17	chr8:10888200-10890600	Enhancers	Fetal Brain Male	brain
18	chr8:10888400-10889800	Enhancers	HSMMtube	muscle
19	chr8:10888400-10890200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:10888400-10892600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:10888800-10890600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:10889000-10889200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:10889000-10890600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:10889000-10891800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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