Variant report

Variant	rs2246157
Chromosome Location	chr8:90928990-90928991
allele	A/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90923270..90927785-chr8:90927910..90932487,5	K562	blood:
2	chr8:90915800..90917869-chr8:90927701..90930524,2	K562	blood:
3	chr8:90921714..90923566-chr8:90927092..90929699,2	K562	blood:
4	chr17:59484518..59487059-chr8:90928866..90930436,2	MCF-7	breast:
5	chr8:90927824..90930630-chr8:90933419..90935014,2	K562	blood:
6	chr8:90913131..90919306-chr8:90925970..90937421,31	MCF-7	breast:
7	chr8:90926823..90929707-chr8:90995957..90997929,2	K562	blood:
8	chr8:90927894..90929556-chr8:90935749..90937538,2	K562	blood:
9	chr8:90920379..90924050-chr8:90924527..90930361,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000121068	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10109454	0.81[JPT][hapmap]
rs1063054	0.81[CEU][hapmap]
rs1476590	0.82[JPT][hapmap]
rs16786	0.82[JPT][hapmap]
rs1805793	0.81[JPT][hapmap]
rs1805796	0.81[JPT][hapmap]
rs1805801	0.81[JPT][hapmap]
rs1805806	0.82[JPT][hapmap]
rs1805809	0.82[JPT][hapmap]
rs1805833	0.82[JPT][hapmap]
rs1805841	0.82[JPT][hapmap]
rs1805864	0.82[JPT][hapmap]
rs1805868	0.81[JPT][hapmap]
rs1805889	0.81[JPT][hapmap]
rs1881467	0.80[CEU][hapmap]
rs1881468	0.81[CEU][hapmap]
rs1881469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2021881	0.80[CEU][hapmap]
rs2021882	0.81[CEU][hapmap]
rs2107466	0.81[JPT][hapmap]
rs2142097	0.81[CEU][hapmap]
rs2246022	0.81[CEU][hapmap]
rs2250670	0.83[YRI][hapmap]
rs2293775	0.82[JPT][hapmap]
rs2697674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2697675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2697676	0.81[CEU][hapmap]
rs2697679	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs2734823	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2735383	0.80[CEU][hapmap]
rs4961165	0.82[JPT][hapmap]
rs4961168	0.82[JPT][hapmap]
rs7010210	0.82[JPT][hapmap]
rs709816	0.81[JPT][hapmap]
rs867185	0.81[JPT][hapmap]
rs9995	0.80[CEU][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2246157	NBN	Cis_1M	lymphoblastoid	RTeQTL
rs2246157	NBN	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90915400-90966800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:90915600-90950800	Weak transcription	Stomach Mucosa	stomach
3	chr8:90915800-90930800	Weak transcription	Fetal Brain Female	brain
4	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
5	chr8:90916000-90961400	Weak transcription	Fetal Heart	heart
6	chr8:90916400-90937000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:90916600-90969600	Weak transcription	Brain Substantia Nigra	brain
8	chr8:90917000-90937000	Weak transcription	Psoas Muscle	Psoas
9	chr8:90917600-90953600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:90917600-90975400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:90918800-90951800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:90919200-90936800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:90920600-90929200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:90921400-90929400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:90921400-90932000	Strong transcription	Hela-S3	cervix
16	chr8:90921800-90929400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:90921800-90941600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:90922000-90932000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:90922000-90932000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr8:90922000-90932800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr8:90922200-90929400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:90922200-90929600	Strong transcription	Stomach Smooth Muscle	stomach
23	chr8:90922200-90930000	Strong transcription	HSMM	muscle
24	chr8:90922200-90932000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:90922200-90932000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr8:90922200-90932400	Strong transcription	Adipose Nuclei	Adipose
27	chr8:90922200-90932600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:90922200-90938800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:90922400-90940000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:90922600-90929200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:90922600-90929200	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:90922600-90929400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:90922600-90929400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr8:90922600-90929400	Strong transcription	HUVEC	blood vessel
35	chr8:90922600-90929600	Strong transcription	HSMMtube	muscle
36	chr8:90922600-90931600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:90922800-90929200	Strong transcription	Fetal Thymus	thymus
38	chr8:90922800-90929400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr8:90923200-90929200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:90923400-90936800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:90923400-90936800	Weak transcription	Placenta	Placenta
42	chr8:90923800-90932000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:90924600-90929600	Strong transcription	Brain Hippocampus Middle	brain
44	chr8:90924600-90929600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr8:90924800-90940000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:90924800-90986600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:90925000-90939000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:90925200-90929200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:90925200-90929800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:90925200-90929800	Strong transcription	Liver	Liver

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