Variant report

Variant	rs7808290
Chromosome Location	chr7:32977722-32977723
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:32972416..32980177-chr7:32980978..32984525,9	MCF-7	breast:
2	chr7:32968245..32972427-chr7:32974851..32978457,6	K562	blood:
3	chr7:32976067..32979041-chr7:33099652..33102556,2	MCF-7	breast:
4	chr7:32951935..32953713-chr7:32977165..32979828,2	K562	blood:
5	chr7:32975405..32978878-chr7:32995997..32998835,3	MCF-7	breast:
6	chr7:32946396..32947995-chr7:32977395..32979188,2	K562	blood:
7	chr7:32975404..32979316-chr7:32980628..32983456,5	MCF-7	breast:
8	chr7:32974679..32979043-chr7:32979887..32983417,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122642	Chromatin interaction
ENSG00000205763	Chromatin interaction
ENSG00000122643	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11771075	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247369	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13311608	0.84[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs13437980	0.85[ASN][1000 genomes]
rs17356044	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2465899	0.87[ASN][1000 genomes]
rs2598304	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34556400	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3750076	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3750077	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3750079	0.80[CEU][hapmap]
rs4723224	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6970641	0.87[ASN][1000 genomes]
rs6970869	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7784449	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7786644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787304	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7787645	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7790246	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806466	0.85[ASN][1000 genomes]
rs7809397	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1033096	chr7:32965040-33039206	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7808290	FKBP9L	trans	multi-tissue	Pritchard
rs7808290	NPSR1	cis	cerebellum	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:32947600-32981200	Weak transcription	Stomach Mucosa	stomach
2	chr7:32955000-32981000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:32956600-32981000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:32956600-32981000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:32958800-32978600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:32966800-32980800	Weak transcription	Fetal Kidney	kidney
7	chr7:32969400-32979600	Weak transcription	Primary B cells from cord blood	blood
8	chr7:32969400-32980800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:32969600-32981000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:32970200-32981200	Weak transcription	Liver	Liver
11	chr7:32971000-32981400	Weak transcription	Esophagus	oesophagus
12	chr7:32971600-32980800	Weak transcription	Hela-S3	cervix
13	chr7:32971600-32981000	Weak transcription	Colonic Mucosa	Colon
14	chr7:32971800-32978400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:32971800-32980800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:32971800-32980800	Weak transcription	HMEC	breast
17	chr7:32972400-32980000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:32972600-32981000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:32973400-32980800	Weak transcription	NHEK	skin
20	chr7:32973400-32981000	Weak transcription	Fetal Intestine Large	intestine
21	chr7:32973600-32978400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:32973600-32978600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:32973600-32980800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:32973600-32980800	Weak transcription	NH-A	brain
25	chr7:32973600-32981600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:32973800-32977800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:32973800-32978600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:32973800-32980800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:32975200-32977800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:32975200-32979200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:32975200-32979200	Enhancers	NHDF-Ad	bronchial
32	chr7:32976000-32977800	Enhancers	Rectal Smooth Muscle	rectum
33	chr7:32976000-32977800	Enhancers	Right Atrium	heart
34	chr7:32976000-32977800	Enhancers	Right Ventricle	heart
35	chr7:32976000-32978000	Enhancers	Left Ventricle	heart
36	chr7:32976000-32978200	Enhancers	Fetal Heart	heart
37	chr7:32976000-32978600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr7:32976000-32979200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:32976000-32979400	Enhancers	Colon Smooth Muscle	Colon
40	chr7:32976200-32977800	Enhancers	Psoas Muscle	Psoas
41	chr7:32976200-32978000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr7:32976200-32978000	Enhancers	Fetal Lung	lung
43	chr7:32976200-32979200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:32976400-32977800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:32976400-32977800	Enhancers	Fetal Stomach	stomach
46	chr7:32976400-32977800	Enhancers	Ovary	ovary
47	chr7:32976400-32978000	Enhancers	Brain Anterior Caudate	brain
48	chr7:32976400-32978000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr7:32976400-32978600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:32976400-32980800	Enhancers	Cortex derived primary cultured neurospheres	brain

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