Variant report

Variant	rs7027743
Chromosome Location	chr9:115915624-115915625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:115905644..115908349-chr9:115914691..115916468,2	K562	blood:
2	chr9:115913327..115916086-chr9:115970304..115972231,2	MCF-7	breast:
3	chr9:115913111..115914699-chr9:115915133..115916997,2	K562	blood:
4	chr9:115887611..115890231-chr9:115913519..115916345,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136867	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10121117	0.84[AMR][1000 genomes]
rs10981652	0.84[AFR][1000 genomes]
rs4263842	0.98[LWK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs7028165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7028607	0.84[AFR][1000 genomes]
rs7852229	0.81[EUR][1000 genomes]
rs7856379	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7860081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv831691	chr9:115754699-115929459	Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv893743	chr9:115867276-115917783	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1051654	chr9:115881588-115935663	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv1035406	chr9:115883978-116003980	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv540201	chr9:115883978-116003980	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv615212	chr9:115891009-115915859	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv466507	chr9:115905850-115936903	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv615213	chr9:115905850-115936903	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv8563	chr9:115914276-115917151	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7027743	C9orf91	cis	cerebellum	SCAN
rs7027743	ORM2	cis	cerebellum	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115913000-115915800	Active TSS	Brain Angular Gyrus	brain
2	chr9:115913000-115916600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:115913800-115915800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
4	chr9:115913800-115918000	Weak transcription	Aorta	Aorta
5	chr9:115914000-115923600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:115914000-115925000	Weak transcription	Fetal Kidney	kidney
7	chr9:115914200-115915800	Flanking Active TSS	HMEC	breast
8	chr9:115914200-115917200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:115914200-115917600	Weak transcription	Primary T cells from cord blood	blood
10	chr9:115914200-115917600	Enhancers	NHLF	lung
11	chr9:115914200-115917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr9:115914200-115919400	Weak transcription	Fetal Stomach	stomach
13	chr9:115914200-115919600	Weak transcription	Fetal Lung	lung
14	chr9:115914200-115919600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:115914200-115920200	Weak transcription	Brain Germinal Matrix	brain
16	chr9:115914200-115922800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:115914200-115922800	Weak transcription	Fetal Heart	heart
18	chr9:115914200-115923600	Weak transcription	A549	lung
19	chr9:115914200-115923800	Weak transcription	HUVEC	blood vessel
20	chr9:115914400-115917200	Enhancers	Left Ventricle	heart
21	chr9:115914400-115917400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr9:115914400-115917600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr9:115914400-115917800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr9:115914400-115919200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr9:115914400-115920200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:115914400-115925000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr9:115914600-115916400	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr9:115914600-115916600	Weak transcription	Fetal Muscle Leg	muscle
29	chr9:115914600-115917400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr9:115914600-115917400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr9:115914600-115918000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr9:115914600-115918200	Weak transcription	Thymus	Thymus
33	chr9:115914600-115920400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr9:115914800-115915800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:115914800-115916000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr9:115914800-115916000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr9:115914800-115916200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:115914800-115916400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:115914800-115917400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr9:115914800-115917600	Enhancers	Placenta	Placenta
41	chr9:115914800-115917800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr9:115914800-115917800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr9:115914800-115918200	Weak transcription	K562	blood
44	chr9:115914800-115919400	Weak transcription	Fetal Intestine Large	intestine
45	chr9:115914800-115920600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr9:115914800-115926400	Weak transcription	Fetal Brain Male	brain
47	chr9:115915000-115915800	Weak transcription	Lung	lung
48	chr9:115915000-115916000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:115915000-115916600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:115915000-115916600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links