Variant report

Variant	rs71516569
Chromosome Location	chr8:10206154-10206155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10200552..10204035-chr8:10205072..10206852,3	K562	blood:
2	chr8:10205661..10208295-chr8:10208819..10211116,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10903325	0.86[EUR][1000 genomes]
rs11249985	0.81[EUR][1000 genomes]
rs11249990	0.83[EUR][1000 genomes]
rs11249991	0.86[EUR][1000 genomes]
rs11777018	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11778030	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11778901	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11781529	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11783091	0.81[EUR][1000 genomes]
rs11785954	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4840479	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841325	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4841326	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55656427	0.84[EUR][1000 genomes]
rs56028519	0.83[EUR][1000 genomes]
rs56141232	0.85[EUR][1000 genomes]
rs6989061	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv1018940	chr8:10200886-10220973	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10206200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:10192600-10282400	Weak transcription	Gastric	stomach
3	chr8:10192800-10206400	Weak transcription	Thymus	Thymus
4	chr8:10193000-10215400	Weak transcription	Fetal Intestine Small	intestine
5	chr8:10193000-10235000	Weak transcription	Pancreas	Pancrea
6	chr8:10193600-10220400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:10196800-10208000	Weak transcription	Adipose Nuclei	Adipose
8	chr8:10196800-10214200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:10196800-10228000	Weak transcription	Liver	Liver
10	chr8:10198400-10206400	Weak transcription	Primary T cells from cord blood	blood
11	chr8:10199600-10206800	Weak transcription	Fetal Thymus	thymus
12	chr8:10200800-10207400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:10201800-10206400	Weak transcription	Fetal Brain Female	brain
14	chr8:10201800-10206800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:10201800-10207200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:10201800-10208200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:10201800-10221800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:10202400-10207400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:10203000-10208200	Weak transcription	Lung	lung
20	chr8:10203800-10206200	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:10203800-10208200	Weak transcription	Right Ventricle	heart
22	chr8:10204000-10206200	Weak transcription	Fetal Heart	heart
23	chr8:10204000-10206200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:10204000-10219800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:10204200-10207400	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:10204200-10207800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:10204200-10208000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:10204200-10210400	Weak transcription	Right Atrium	heart
29	chr8:10204400-10221800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:10204600-10208200	Weak transcription	Psoas Muscle	Psoas
31	chr8:10204600-10209600	Weak transcription	Left Ventricle	heart
32	chr8:10204800-10207600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:10205000-10207600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:10205200-10206200	Weak transcription	Brain Germinal Matrix	brain
35	chr8:10205400-10207400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:10206000-10213600	Enhancers	Fetal Brain Male	brain

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