Variant report

Variant	rs71516568
Chromosome Location	chr8:10185120-10185121
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	chr8:10178281..10180046-chr8:10185118..10187450,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11249984	1.00[ASN][1000 genomes]
rs11774474	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34795112	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240644	1.00[ASN][1000 genomes]
rs6983361	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10168400-10188600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:10176600-10191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:10178600-10190400	Weak transcription	Primary B cells from cord blood	blood
4	chr8:10179400-10188400	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:10179400-10189600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:10179400-10189800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr8:10179400-10190000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:10179400-10190000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:10179400-10190400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:10179400-10190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:10179400-10191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:10179400-10191200	Weak transcription	Fetal Intestine Small	intestine
13	chr8:10179400-10191200	Weak transcription	Pancreas	Pancrea
14	chr8:10179400-10192000	Weak transcription	Aorta	Aorta
15	chr8:10179600-10188000	Weak transcription	Fetal Brain Female	brain
16	chr8:10179600-10188400	Weak transcription	Brain Anterior Caudate	brain
17	chr8:10179600-10190200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:10180200-10190200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:10182600-10190600	Weak transcription	Spleen	Spleen
20	chr8:10182600-10192000	Weak transcription	Right Ventricle	heart
21	chr8:10182800-10186800	Weak transcription	Fetal Brain Male	brain
22	chr8:10183800-10188800	Weak transcription	Brain Germinal Matrix	brain
23	chr8:10184000-10185200	Enhancers	Primary T cells from cord blood	blood
24	chr8:10184000-10188200	Weak transcription	Brain Angular Gyrus	brain
25	chr8:10184000-10188200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:10184000-10189400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:10184000-10189600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:10184200-10188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:10184200-10189600	Weak transcription	GM12878-XiMat	blood
30	chr8:10184200-10190000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:10184400-10190000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:10184600-10189600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:10185000-10186000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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