Variant report

Variant	rs2735388
Chromosome Location	chr8:90951297-90951298
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90913046..90917912-chr8:90949306..90952418,7	MCF-7	breast:
2	chr8:90951003..90953709-chr8:90966366..90969265,2	K562	blood:
3	chr8:90950728..90952538-chr8:90963276..90965322,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207359	Chromatin interaction
ENSG00000164823	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1063053	0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1063054	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12679577	0.80[JPT][hapmap]
rs12680687	0.82[CHB][hapmap]
rs13265193	0.86[JPT][hapmap]
rs1805876	0.81[JPT][hapmap]
rs1805877	0.80[JPT][hapmap]
rs1881467	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1881468	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2021881	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2021882	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2074596	0.80[JPT][hapmap]
rs2091887	0.81[JPT][hapmap]
rs2107465	0.85[JPT][hapmap]
rs2142097	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2246022	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2267543	0.80[JPT][hapmap]
rs2697676	0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2697679	0.86[CHB][hapmap];0.80[EUR][1000 genomes]
rs2735380	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2735383	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2735384	0.82[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2735385	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2735386	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2735387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2735889	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35696408	0.88[ASN][1000 genomes]
rs6470668	0.80[JPT][hapmap]
rs67277238	0.88[ASN][1000 genomes]
rs6988013	0.81[JPT][hapmap]
rs6999227	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7012846	0.81[CHB][hapmap]
rs741778	0.86[JPT][hapmap]
rs7816839	0.80[JPT][hapmap]
rs7821408	0.81[JPT][hapmap]
rs9649958	0.86[JPT][hapmap]
rs9995	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.91[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
rs2735388	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 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	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
3	chr8:90916000-90961400	Weak transcription	Fetal Heart	heart
4	chr8:90916600-90969600	Weak transcription	Brain Substantia Nigra	brain
5	chr8:90917600-90953600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:90917600-90975400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:90918800-90951800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:90924800-90986600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:90925400-90952000	Weak transcription	Fetal Intestine Small	intestine
10	chr8:90925400-90956600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:90925400-90970200	Weak transcription	Pancreas	Pancrea
12	chr8:90925400-90979200	Weak transcription	Gastric	stomach
13	chr8:90925600-90961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:90925600-90967200	Weak transcription	Colonic Mucosa	Colon
15	chr8:90925600-90975200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:90927000-90978000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:90927200-90964200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:90927600-90988400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:90927800-90951800	Weak transcription	Osteobl	bone
20	chr8:90927800-90963800	Weak transcription	NHEK	skin
21	chr8:90927800-90969800	Weak transcription	Esophagus	oesophagus
22	chr8:90927800-90970200	Weak transcription	Spleen	Spleen
23	chr8:90927800-90970400	Weak transcription	Right Ventricle	heart
24	chr8:90927800-90996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:90928000-90965200	Weak transcription	Fetal Kidney	kidney
26	chr8:90928000-90970400	Weak transcription	Small Intestine	intestine
27	chr8:90929200-90961400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:90929400-90966000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:90931600-90965200	Weak transcription	HepG2	liver
30	chr8:90932000-90952400	Weak transcription	NHLF	lung
31	chr8:90934000-90965400	Weak transcription	Fetal Brain Female	brain
32	chr8:90935400-90951400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:90937200-90969800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:90937200-90970400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:90937200-90970400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:90937600-90952000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:90937600-90952000	Weak transcription	HSMMtube	muscle
38	chr8:90937600-90954600	Weak transcription	Brain Anterior Caudate	brain
39	chr8:90937600-90961200	Weak transcription	Psoas Muscle	Psoas
40	chr8:90937600-90969400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:90937600-90970000	Weak transcription	Lung	lung
42	chr8:90937800-90951400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:90937800-90952000	Weak transcription	Aorta	Aorta
44	chr8:90937800-90953800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:90938200-90974600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:90938400-90970000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:90938800-90963000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:90939000-90964800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:90941400-90952000	Weak transcription	Fetal Stomach	stomach
50	chr8:90941400-90970000	Weak transcription	Brain Germinal Matrix	brain

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