Variant report

Variant	rs2697671
Chromosome Location	chr8:90917706-90917707
allele	C/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90915875..90918641-chr8:90936584..90938506,2	MCF-7	breast:
2	chr8:90916538..90918180-chr8:90993774..90996028,2	MCF-7	breast:
3	chr8:90917254..90919157-chr8:91001242..91003446,2	K562	blood:
4	chr8:90917104..90918910-chr8:92044732..92046540,2	MCF-7	breast:
5	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
6	chr8:90915800..90917869-chr8:90927701..90930524,2	K562	blood:
7	chr8:90854578..90857222-chr8:90915273..90917997,2	MCF-7	breast:
8	chr8:90917526..90919933-chr8:90923821..90925728,3	MCF-7	breast:
9	chr8:90913046..90917912-chr8:90949306..90952418,7	MCF-7	breast:
10	chr8:90903994..90907107-chr8:90915784..90918218,3	MCF-7	breast:
11	chr8:90915281..90919071-chr8:91010882..91014336,4	MCF-7	breast:
12	chr8:90877621..90880581-chr8:90916033..90918083,2	K562	blood:
13	chr8:90916507..90918102-chr8:90963523..90965242,2	K562	blood:
14	chr8:90913007..90918207-chr8:90995257..90997906,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1012469	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12549239	0.88[JPT][hapmap]
rs2141403	0.85[ASN][1000 genomes]
rs2141406	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2141408	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2284134	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2697666	0.80[ASN][1000 genomes]
rs2697667	0.95[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes]
rs2697677	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2735375	0.81[ASN][1000 genomes]
rs2735377	0.82[AMR][1000 genomes]
rs2735378	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs989384	0.81[CHB][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2697671	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90915400-90923000	Weak transcription	Lung	lung
2	chr8:90915400-90923200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:90915400-90924600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:90915400-90924600	Weak transcription	Gastric	stomach
5	chr8:90915400-90924600	Weak transcription	Pancreas	Pancrea
6	chr8:90915400-90927200	Weak transcription	Spleen	Spleen
7	chr8:90915400-90966800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:90915600-90922200	Weak transcription	Left Ventricle	heart
9	chr8:90915600-90922600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:90915600-90922600	Weak transcription	Placenta	Placenta
11	chr8:90915600-90922600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:90915600-90924600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:90915600-90924600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:90915600-90924800	Weak transcription	Colonic Mucosa	Colon
15	chr8:90915600-90950800	Weak transcription	Stomach Mucosa	stomach
16	chr8:90915800-90918000	Flanking Active TSS	HUVEC	blood vessel
17	chr8:90915800-90918400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:90915800-90920000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:90915800-90921800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:90915800-90922200	Weak transcription	Fetal Intestine Large	intestine
21	chr8:90915800-90922200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:90915800-90922600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:90915800-90922800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:90915800-90922800	Weak transcription	Fetal Thymus	thymus
25	chr8:90915800-90923000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:90915800-90923000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:90915800-90923000	Weak transcription	Fetal Stomach	stomach
28	chr8:90915800-90923000	Weak transcription	Thymus	Thymus
29	chr8:90915800-90923200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:90915800-90923200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:90915800-90924400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:90915800-90927400	Weak transcription	Right Ventricle	heart
33	chr8:90915800-90930800	Weak transcription	Fetal Brain Female	brain
34	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
35	chr8:90916000-90921400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:90916000-90961400	Weak transcription	Fetal Heart	heart
37	chr8:90916200-90918000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr8:90916200-90924400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:90916400-90922000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr8:90916400-90922000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr8:90916400-90922200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:90916400-90926600	Weak transcription	HMEC	breast
43	chr8:90916400-90937000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:90916600-90917800	Enhancers	Dnd41	blood
45	chr8:90916600-90918600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:90916600-90921800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr8:90916600-90922200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:90916600-90922200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:90916600-90922800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr8:90916600-90969600	Weak transcription	Brain Substantia Nigra	brain

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