Variant report

Variant	rs10982318
Chromosome Location	chr9:117350930-117350931
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:117333105..117337028-chr9:117348080..117351758,7	MCF-7	breast:
2	chr9:117346842..117352204-chr9:117370877..117374909,8	K562	blood:
3	chr9:117310558..117329379-chr9:117338511..117355772,81	MCF-7	breast:
4	chr9:117349294..117352043-chr9:117375229..117380114,4	MCF-7	breast:
5	chr9:117163972..117166218-chr9:117350141..117352185,2	MCF-7	breast:
6	chr16:4784658..4785168-chr9:117350576..117351386,2	NB4	blood:
7	chr9:117349724..117351547-chr9:127700985..127703936,2	MCF-7	breast:
8	chr9:117265762..117270088-chr9:117348229..117352933,7	K562	blood:
9	chr9:117348104..117352194-chr9:117371141..117379325,14	K562	blood:
10	chr9:117264226..117271307-chr9:117346303..117355535,28	MCF-7	breast:
11	chr9:117346757..117362857-chr9:117372020..117377914,21	MCF-7	breast:
12	chr9:117350512..117352142-chr9:117376353..117378083,2	K562	blood:
13	chr9:117349427..117352163-chr9:117404465..117406175,2	MCF-7	breast:
14	chr9:117286668..117289203-chr9:117350416..117352540,2	MCF-7	breast:
15	chr9:117264854..117270088-chr9:117348300..117353117,7	K562	blood:
16	chr9:117324281..117328199-chr9:117347808..117351256,4	MCF-7	breast:
17	chr9:117264990..117269271-chr9:117348762..117354798,9	MCF-7	breast:
18	chr9:117349336..117350972-chr9:117372211..117374265,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272241	Chromatin interaction
ENSG00000157693	Chromatin interaction
ENSG00000201749	Chromatin interaction
ENSG00000136935	Chromatin interaction
ENSG00000235797	Chromatin interaction
ENSG00000095397	Chromatin interaction
ENSG00000238530	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10448251	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10817628	1.00[CHB][hapmap]
rs10817641	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982244	1.00[CHB][hapmap]
rs10982293	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982298	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982302	1.00[CEU][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982303	0.90[EUR][1000 genomes]
rs10982304	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10982305	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982306	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982307	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982308	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982309	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982310	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10982311	1.00[EUR][1000 genomes]
rs10982312	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982314	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982316	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982322	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982339	1.00[ASN][1000 genomes]
rs12005529	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12378786	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12379017	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324631	1.00[CHB][hapmap]
rs62578796	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62578799	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62578848	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62578852	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62578853	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62578854	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62578856	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62578857	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62578858	1.00[ASN][1000 genomes]
rs62579680	1.00[ASN][1000 genomes]
rs7019057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7043244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73656153	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73656157	0.84[AFR][1000 genomes]
rs7853552	1.00[CHD][hapmap]
rs999009	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
2	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	nsv1051544	chr9:116944940-117443031	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv540203	chr9:116944940-117443031	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1048093	chr9:116945025-117456210	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
6	nsv1050991	chr9:116953739-117442999	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv1046311	chr9:116953739-117447142	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
8	nsv1052877	chr9:116953739-117456210	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
9	nsv1039681	chr9:116953739-117457158	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
10	nsv1051987	chr9:116955841-117453668	Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
11	nsv1044374	chr9:116955841-117460150	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
12	nsv466534	chr9:116956268-117455810	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
13	nsv615234	chr9:116956268-117455810	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
14	nsv1048817	chr9:116957958-117456210	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
15	nsv615235	chr9:116958144-117367061	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
16	nsv615236	chr9:116958144-117455810	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
17	nsv466535	chr9:116958144-117456175	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
18	nsv615237	chr9:116958144-117456175	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
19	nsv615238	chr9:116958144-117458475	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
20	nsv430094	chr9:116958446-117456446	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
21	nsv1053756	chr9:116975934-117443031	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
22	nsv540204	chr9:116975934-117443031	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
23	nsv1047704	chr9:116978041-117399362	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
24	nsv540205	chr9:116978041-117399362	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
25	nsv530950	chr9:117009156-117399361	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
26	nsv916139	chr9:117009169-117399454	Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
27	nsv530951	chr9:117032675-117439804	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
28	nsv831694	chr9:117328640-117502785	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats 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	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10982318	C9orf91	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117349200-117351000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:117349200-117351000	Active TSS	Brain Hippocampus Middle	brain
3	chr9:117349200-117351000	Active TSS	Colon Smooth Muscle	Colon
4	chr9:117349200-117351000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr9:117349200-117351000	Active TSS	Fetal Kidney	kidney
6	chr9:117349200-117351200	Active TSS	Fetal Intestine Small	intestine
7	chr9:117349200-117351400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr9:117349200-117351600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr9:117349200-117351800	Active TSS	Colonic Mucosa	Colon
10	chr9:117349400-117351000	Active TSS	Liver	Liver
11	chr9:117349400-117351000	Active TSS	Brain Anterior Caudate	brain
12	chr9:117349400-117351000	Active TSS	Fetal Brain Female	brain
13	chr9:117349400-117351200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:117349400-117351200	Active TSS	Esophagus	oesophagus
15	chr9:117349400-117351200	Active TSS	Fetal Muscle Trunk	muscle
16	chr9:117349400-117351200	Active TSS	Placenta Amnion	Placenta Amnion
17	chr9:117349400-117351400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr9:117349400-117351600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr9:117349400-117351600	Active TSS	Aorta	Aorta
20	chr9:117349400-117351600	Active TSS	HSMMtube	muscle
21	chr9:117349400-117351600	Active TSS	NHDF-Ad	bronchial
22	chr9:117349400-117351800	Active TSS	Ovary	ovary
23	chr9:117349400-117351800	Active TSS	Psoas Muscle	Psoas
24	chr9:117349400-117351800	Active TSS	Right Atrium	heart
25	chr9:117349400-117352000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr9:117349400-117352400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:117349600-117351000	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr9:117349600-117351000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:117349600-117351000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr9:117349600-117351000	Active TSS	Brain Cingulate Gyrus	brain
31	chr9:117349600-117351000	Active TSS	Spleen	Spleen
32	chr9:117349600-117351200	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr9:117349600-117351200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr9:117349600-117351200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:117349600-117351200	Active TSS	Lung	lung
36	chr9:117349600-117351200	Active TSS	Pancreas	Pancrea
37	chr9:117349600-117351200	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr9:117349600-117351200	Active TSS	A549	lung
39	chr9:117349600-117351400	Active TSS	H1 Cell Line	embryonic stem cell
40	chr9:117349600-117351400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr9:117349600-117351400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:117349600-117351400	Active TSS	Gastric	stomach
43	chr9:117349600-117351400	Active TSS	Small Intestine	intestine
44	chr9:117349600-117351400	Bivalent/Poised TSS	HepG2	liver
45	chr9:117349600-117351600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:117349600-117351600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr9:117349600-117351600	Active TSS	Left Ventricle	heart
48	chr9:117349600-117351600	Active TSS	NHLF	lung
49	chr9:117349600-117351800	Active TSS	Fetal Intestine Large	intestine
50	chr9:117349600-117352600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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