Variant report

Variant	rs9650098
Chromosome Location	chr8:90977768-90977769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90969741..90972805-chr8:90974123..90977910,4	K562	blood:
2	chr8:90972565..90976649-chr8:90976660..90979735,4	MCF-7	breast:
3	chr8:90976407..90978476-chr8:90995188..90998070,2	K562	blood:
4	chr8:90963705..90966005-chr8:90977442..90979124,2	MCF-7	breast:
5	chr8:90975334..90977907-chr8:90996289..90998070,2	K562	blood:
6	chr8:90912194..90913716-chr8:90977300..90980133,2	MCF-7	breast:
7	chr8:90957962..90962129-chr8:90974305..90978101,4	MCF-7	breast:
8	chr8:90975523..90977214-chr8:90977319..90979000,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction
ENSG00000207359	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10109454	0.84[EUR][1000 genomes]
rs1011682	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1011683	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1061302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1063045	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956375	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11784904	0.87[EUR][1000 genomes]
rs12550313	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12677527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680903	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13275276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278453	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13312842	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13312935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16786	0.84[EUR][1000 genomes]
rs1805786	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805788	0.84[EUR][1000 genomes]
rs1805790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805793	0.82[EUR][1000 genomes]
rs1805794	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805796	0.84[EUR][1000 genomes]
rs1805797	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805801	0.81[EUR][1000 genomes]
rs1805802	0.81[EUR][1000 genomes]
rs1805803	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805804	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805808	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1805817	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805818	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805833	0.82[EUR][1000 genomes]
rs1805841	0.82[EUR][1000 genomes]
rs1805844	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2072656	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2073635	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074593	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2074596	0.83[AFR][1000 genomes]
rs2097825	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2107465	0.87[EUR][1000 genomes]
rs2234744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2280780	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293774	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293775	0.82[EUR][1000 genomes]
rs2308962	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2339025	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3026265	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3026276	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34394839	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3736639	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4961166	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4961167	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58579435	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61427172	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470524	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6985793	0.90[EUR][1000 genomes]
rs6987873	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990969	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991811	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6993054	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7006322	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010210	0.84[EUR][1000 genomes]
rs7011299	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7018118	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs709816	0.84[EUR][1000 genomes]
rs71528733	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs741777	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741778	0.85[EUR][1000 genomes]
rs7463645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822272	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7822950	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7829246	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832009	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867185	0.84[EUR][1000 genomes]
rs926092	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9649958	0.89[EUR][1000 genomes]
rs9650096	0.89[EUR][1000 genomes]
rs9792335	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9650098	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
2	chr8:90924800-90986600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:90925400-90979200	Weak transcription	Gastric	stomach
4	chr8:90927000-90978000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:90927600-90988400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:90927800-90996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:90942600-90982600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr8:90944400-90982800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:90944600-90982000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr8:90944800-90984400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:90962000-90994400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:90962000-90995000	Weak transcription	Aorta	Aorta
13	chr8:90962400-90980200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:90962400-90982000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:90962600-90982400	Weak transcription	Stomach Mucosa	stomach
16	chr8:90962600-90983400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:90963000-90982000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:90965000-90984200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:90968800-90978000	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:90969000-90981800	Strong transcription	Primary B cells from cord blood	blood
21	chr8:90969600-90983400	Strong transcription	HSMM	muscle
22	chr8:90970600-90988200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:90970800-90979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:90970800-90983200	Weak transcription	Fetal Brain Female	brain
25	chr8:90970800-90988200	Weak transcription	Pancreas	Pancrea
26	chr8:90970800-90993200	Weak transcription	Psoas Muscle	Psoas
27	chr8:90971000-90994000	Weak transcription	Brain Substantia Nigra	brain
28	chr8:90971200-90994400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:90971400-90993800	Weak transcription	Small Intestine	intestine
30	chr8:90971800-90995600	Weak transcription	Right Ventricle	heart
31	chr8:90972200-90979200	Weak transcription	Fetal Stomach	stomach
32	chr8:90973600-90988400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:90973800-90993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:90974200-90986800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:90974200-90993800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:90974800-90978000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:90975000-90978400	Strong transcription	Osteobl	bone
38	chr8:90975600-90980000	Weak transcription	Brain Anterior Caudate	brain
39	chr8:90975600-90988400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr8:90975600-90993800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:90975600-90993800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:90975600-90994000	Weak transcription	Brain Angular Gyrus	brain
43	chr8:90975600-90995800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:90975800-90988400	Weak transcription	HMEC	breast
45	chr8:90975800-90993200	Weak transcription	NHDF-Ad	bronchial
46	chr8:90976000-90993800	Weak transcription	Fetal Heart	heart
47	chr8:90976200-90979200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:90976200-90979200	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:90976200-90984800	Weak transcription	HSMMtube	muscle
50	chr8:90976200-90993600	Weak transcription	Brain Hippocampus Middle	brain

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