Variant report

Variant	rs11784904
Chromosome Location	chr8:90969535-90969536
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90965461..90967968-chr8:90968240..90970212,2	MCF-7	breast:
2	chr8:90913368..90915454-chr8:90968096..90970625,2	MCF-7	breast:
3	chr8:90961129..90964552-chr8:90965641..90969617,4	K562	blood:
4	chr8:90954268..90956758-chr8:90968842..90971349,2	K562	blood:
5	chr1:28973806..28976582-chr8:90969425..90971263,2	MCF-7	breast:
6	chr8:90969197..90971135-chr8:90973260..90974857,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270103	Chromatin interaction
ENSG00000164823	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10092098	0.80[AMR][1000 genomes]
rs1061302	0.87[EUR][1000 genomes]
rs1063045	0.87[EUR][1000 genomes]
rs1063053	0.82[ASN][1000 genomes]
rs1063054	0.82[ASN][1000 genomes]
rs10755930	0.81[ASN][1000 genomes]
rs10956375	0.87[EUR][1000 genomes]
rs10956431	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11778638	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12550313	0.87[EUR][1000 genomes]
rs12677527	0.87[EUR][1000 genomes]
rs12679577	0.84[ASN][1000 genomes]
rs12680903	0.86[EUR][1000 genomes]
rs13264478	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13265193	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13275276	0.87[EUR][1000 genomes]
rs13278453	0.87[EUR][1000 genomes]
rs13312842	0.86[EUR][1000 genomes]
rs13312935	0.87[EUR][1000 genomes]
rs1805786	0.87[EUR][1000 genomes]
rs1805790	0.87[EUR][1000 genomes]
rs1805791	0.86[EUR][1000 genomes]
rs1805792	0.85[EUR][1000 genomes]
rs1805794	0.85[EUR][1000 genomes]
rs1805795	0.85[EUR][1000 genomes]
rs1805797	0.87[EUR][1000 genomes]
rs1805799	0.87[EUR][1000 genomes]
rs1805800	0.87[EUR][1000 genomes]
rs1805803	0.84[EUR][1000 genomes]
rs1805804	0.85[EUR][1000 genomes]
rs1805817	0.87[EUR][1000 genomes]
rs1805818	0.87[EUR][1000 genomes]
rs1805844	0.86[EUR][1000 genomes]
rs1805865	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805870	0.84[ASN][1000 genomes]
rs1805876	0.83[ASN][1000 genomes]
rs1881467	0.82[ASN][1000 genomes]
rs1881468	0.82[ASN][1000 genomes]
rs2021881	0.82[ASN][1000 genomes]
rs2021882	0.82[ASN][1000 genomes]
rs2073635	0.87[EUR][1000 genomes]
rs2074596	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2091887	0.83[ASN][1000 genomes]
rs2107465	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2142097	0.82[ASN][1000 genomes]
rs2234744	0.87[EUR][1000 genomes]
rs2246022	0.82[ASN][1000 genomes]
rs2267543	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2280780	0.87[EUR][1000 genomes]
rs2293774	0.87[EUR][1000 genomes]
rs2308962	0.87[EUR][1000 genomes]
rs2339025	0.85[EUR][1000 genomes]
rs2697676	0.81[ASN][1000 genomes]
rs2735380	0.82[ASN][1000 genomes]
rs2735383	0.82[ASN][1000 genomes]
rs2735384	0.82[ASN][1000 genomes]
rs2735385	0.82[ASN][1000 genomes]
rs2735386	0.82[ASN][1000 genomes]
rs2735889	0.82[ASN][1000 genomes]
rs3026265	0.87[EUR][1000 genomes]
rs3026276	0.85[EUR][1000 genomes]
rs35696408	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3736639	0.87[EUR][1000 genomes]
rs61427172	0.85[EUR][1000 genomes]
rs6470523	0.87[EUR][1000 genomes]
rs6470524	0.89[EUR][1000 genomes]
rs6470668	0.81[ASN][1000 genomes]
rs67277238	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6987873	0.87[EUR][1000 genomes]
rs6990969	0.87[EUR][1000 genomes]
rs6991811	0.87[EUR][1000 genomes]
rs6999227	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7006322	0.87[EUR][1000 genomes]
rs7012846	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7018118	0.86[EUR][1000 genomes]
rs71528733	0.85[EUR][1000 genomes]
rs71528739	0.81[ASN][1000 genomes]
rs72671845	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs741777	0.87[EUR][1000 genomes]
rs741778	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7463645	0.85[EUR][1000 genomes]
rs7816839	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7821408	0.81[ASN][1000 genomes]
rs7829246	0.87[EUR][1000 genomes]
rs7832009	0.85[EUR][1000 genomes]
rs9649958	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650096	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650098	0.87[EUR][1000 genomes]
rs9792335	0.85[EUR][1000 genomes]
rs9995	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11784904	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr8:90916600-90969600	Weak transcription	Brain Substantia Nigra	brain
3	chr8:90917600-90975400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:90924800-90986600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:90925400-90970200	Weak transcription	Pancreas	Pancrea
6	chr8:90925400-90979200	Weak transcription	Gastric	stomach
7	chr8:90925600-90975200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:90927000-90978000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:90927600-90988400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:90927800-90969800	Weak transcription	Esophagus	oesophagus
11	chr8:90927800-90970200	Weak transcription	Spleen	Spleen
12	chr8:90927800-90970400	Weak transcription	Right Ventricle	heart
13	chr8:90927800-90996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:90928000-90970400	Weak transcription	Small Intestine	intestine
15	chr8:90937200-90969800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:90937200-90970400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:90937200-90970400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:90937600-90970000	Weak transcription	Lung	lung
19	chr8:90938200-90974600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:90938400-90970000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:90941400-90970000	Weak transcription	Brain Germinal Matrix	brain
22	chr8:90942600-90977400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:90942600-90982600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr8:90942800-90970000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:90944400-90977000	Strong transcription	Dnd41	blood
26	chr8:90944400-90982800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:90944600-90982000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr8:90944800-90984400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:90947200-90969800	Weak transcription	Brain Angular Gyrus	brain
30	chr8:90948200-90974000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:90952200-90970400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:90957200-90970000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:90961800-90977600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:90962000-90969600	Weak transcription	Ovary	ovary
35	chr8:90962000-90970400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:90962000-90994400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:90962000-90995000	Weak transcription	Aorta	Aorta
38	chr8:90962200-90970400	Weak transcription	NHLF	lung
39	chr8:90962400-90970000	Weak transcription	Fetal Intestine Small	intestine
40	chr8:90962400-90970200	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:90962400-90970400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:90962400-90980200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:90962400-90982000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:90962600-90982400	Weak transcription	Stomach Mucosa	stomach
45	chr8:90962600-90983400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:90963000-90982000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:90963200-90971400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:90963400-90969800	Weak transcription	NHDF-Ad	bronchial
49	chr8:90963600-90971400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:90963800-90976600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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