Variant report

Variant	rs2142097
Chromosome Location	chr8:90945032-90945033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90912199..90917044-chr8:90943490..90947084,5	K562	blood:
2	chr8:90914390..90915914-chr8:90943501..90945665,2	MCF-7	breast:
3	chr8:90939323..90942734-chr8:90943165..90947331,4	K562	blood:
4	chr8:90912620..90916170-chr8:90944488..90948488,4	MCF-7	breast:
5	chr8:90943415..90946102-chr8:90947383..90949597,2	K562	blood:
6	chr8:90944388..90946500-chr8:90996587..90998552,2	MCF-7	breast:
7	chr8:90912199..90916362-chr8:90944740..90947172,4	K562	blood:

Variant related genes	Relation type
ENSG00000207359	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000164823	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10104321	0.81[JPT][hapmap]
rs1063053	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1063054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11784904	0.82[ASN][1000 genomes]
rs12679577	0.85[JPT][hapmap]
rs12680687	0.91[CHB][hapmap]
rs13265193	0.91[JPT][hapmap]
rs1805870	0.85[JPT][hapmap]
rs1805876	0.85[JPT][hapmap]
rs1805877	0.85[JPT][hapmap]
rs1881467	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1881468	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1881469	0.81[CEU][hapmap]
rs2021881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2021882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074596	0.85[JPT][hapmap]
rs2091887	0.85[JPT][hapmap]
rs2107465	0.90[JPT][hapmap]
rs2141408	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2246022	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2246157	0.81[CEU][hapmap]
rs2267543	0.85[JPT][hapmap]
rs2284134	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2697674	0.80[CEU][hapmap]
rs2697676	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2697679	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs2734823	0.81[CEU][hapmap]
rs2735380	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735384	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735385	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735386	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2735387	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2735388	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2735889	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35112024	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35696408	0.93[ASN][1000 genomes]
rs6470668	0.85[JPT][hapmap]
rs6470713	0.81[JPT][hapmap]
rs67277238	0.93[ASN][1000 genomes]
rs6994202	0.81[JPT][hapmap]
rs6999227	0.86[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs7012846	0.84[JPT][hapmap]
rs741778	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7815279	0.81[JPT][hapmap]
rs7816839	0.85[JPT][hapmap]
rs7821408	0.85[JPT][hapmap]
rs9649958	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs9650096	0.82[ASN][1000 genomes]
rs9995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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
rs2142097	NBN	Cis_1M	lymphoblastoid	RTeQTL

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	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
4	chr8:90916000-90961400	Weak transcription	Fetal Heart	heart
5	chr8:90916600-90969600	Weak transcription	Brain Substantia Nigra	brain
6	chr8:90917600-90953600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:90917600-90975400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:90918800-90951800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:90924800-90986600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:90925400-90952000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:90925400-90956600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:90925400-90970200	Weak transcription	Pancreas	Pancrea
13	chr8:90925400-90979200	Weak transcription	Gastric	stomach
14	chr8:90925600-90961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:90925600-90967200	Weak transcription	Colonic Mucosa	Colon
16	chr8:90925600-90975200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:90927000-90978000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:90927200-90964200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:90927600-90988400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:90927800-90946600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:90927800-90951800	Weak transcription	Osteobl	bone
22	chr8:90927800-90963800	Weak transcription	NHEK	skin
23	chr8:90927800-90969800	Weak transcription	Esophagus	oesophagus
24	chr8:90927800-90970200	Weak transcription	Spleen	Spleen
25	chr8:90927800-90970400	Weak transcription	Right Ventricle	heart
26	chr8:90927800-90996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:90928000-90965200	Weak transcription	Fetal Kidney	kidney
28	chr8:90928000-90970400	Weak transcription	Small Intestine	intestine
29	chr8:90929200-90961400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:90929400-90966000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:90929600-90946600	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:90929800-90951200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:90931600-90965200	Weak transcription	HepG2	liver
34	chr8:90932000-90952400	Weak transcription	NHLF	lung
35	chr8:90934000-90965400	Weak transcription	Fetal Brain Female	brain
36	chr8:90935400-90951400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:90937200-90946600	Weak transcription	Brain Angular Gyrus	brain
38	chr8:90937200-90969800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:90937200-90970400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:90937200-90970400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:90937600-90946400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:90937600-90946400	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:90937600-90949600	Weak transcription	Left Ventricle	heart
44	chr8:90937600-90952000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:90937600-90952000	Weak transcription	HSMMtube	muscle
46	chr8:90937600-90954600	Weak transcription	Brain Anterior Caudate	brain
47	chr8:90937600-90961200	Weak transcription	Psoas Muscle	Psoas
48	chr8:90937600-90969400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:90937600-90970000	Weak transcription	Lung	lung
50	chr8:90937800-90945600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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