Variant report

Variant	rs10758823
Chromosome Location	chr9:7088043-7088044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10815537	1.00[ASN][1000 genomes]
rs10815538	1.00[ASN][1000 genomes]
rs10976040	1.00[CHD][hapmap]
rs10976092	1.00[ASN][1000 genomes]
rs10976099	1.00[ASN][1000 genomes]
rs11787622	1.00[ASN][1000 genomes]
rs11793633	1.00[ASN][1000 genomes]
rs2381538	1.00[ASN][1000 genomes]
rs4742301	1.00[ASN][1000 genomes]
rs818866	1.00[ASN][1000 genomes]
rs843893	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS 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	4 gene(s)	inside rSNPs	diseases
4	nsv1015874	chr9:7048807-7434890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv539971	chr9:7048807-7434890	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv869932	chr9:7068359-7133384	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10758823	C9orf46	cis	cerebellum	SCAN
rs10758823	INSL6	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7012200-7111200	Weak transcription	Colonic Mucosa	Colon
2	chr9:7034000-7103600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr9:7043400-7103600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:7051600-7103200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr9:7053200-7099200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr9:7058400-7088600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:7061200-7104600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr9:7061600-7103600	Weak transcription	Spleen	Spleen
9	chr9:7062800-7096400	Weak transcription	Fetal Intestine Small	intestine
10	chr9:7066200-7096200	Weak transcription	Stomach Mucosa	stomach
11	chr9:7067200-7103600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:7068400-7103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:7072000-7088600	Strong transcription	Primary T cells from cord blood	blood
14	chr9:7073600-7099200	Weak transcription	NHEK	skin
15	chr9:7074600-7089800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr9:7075000-7097800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:7075400-7088400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:7075600-7105800	Weak transcription	NHLF	lung
19	chr9:7076600-7103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:7077000-7098000	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:7077800-7089600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:7077800-7089800	Weak transcription	Psoas Muscle	Psoas
23	chr9:7077800-7103200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr9:7077800-7103200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr9:7077800-7103600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr9:7077800-7103600	Weak transcription	Brain Angular Gyrus	brain
27	chr9:7077800-7103600	Weak transcription	HMEC	breast
28	chr9:7077800-7103600	Weak transcription	K562	blood
29	chr9:7077800-7103800	Weak transcription	HSMM	muscle
30	chr9:7078000-7089400	Weak transcription	HSMMtube	muscle
31	chr9:7078000-7094000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:7078000-7103600	Weak transcription	Dnd41	blood
33	chr9:7078200-7103800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr9:7078400-7094600	Weak transcription	GM12878-XiMat	blood
35	chr9:7079200-7088200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:7079400-7103200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr9:7079600-7103600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:7081600-7089800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr9:7081600-7090600	Weak transcription	Fetal Heart	heart
40	chr9:7081600-7097000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:7081800-7088400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr9:7082800-7103600	Weak transcription	Pancreas	Pancrea
43	chr9:7083000-7091800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr9:7085200-7088400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr9:7085400-7088200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr9:7085400-7088400	Weak transcription	Brain Hippocampus Middle	brain
47	chr9:7085400-7093000	Weak transcription	Brain Substantia Nigra	brain
48	chr9:7085400-7096000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr9:7085400-7103600	Weak transcription	Brain Anterior Caudate	brain
50	chr9:7086400-7088600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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