Variant report

Variant	rs12684081
Chromosome Location	chr9:96714981-96714982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr9:96709708-96717433	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr9:96710652-96717425	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:96713619..96716485-chr9:96717370..96719166,2	K562	blood:
2	chr9:96710465..96712948-chr9:96713592..96715312,2	MCF-7	breast:
3	chr9:96709646..96715968-chr9:96715980..96721050,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235601	TF binding region
ENSG00000131668	Chromatin interaction
ENSG00000235601	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10993017	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10993047	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs11788160	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11788176	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11789015	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789837	0.88[CEU][hapmap]
rs11792744	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11793856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12001386	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12004383	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1411861	0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1539282	0.88[CEU][hapmap]
rs2039313	0.84[CEU][hapmap]
rs2095777	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2153791	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2398893	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34849895	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35480828	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35886839	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3909256	0.89[ASW][hapmap];0.87[CEU][hapmap]
rs4316201	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5014099	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55947603	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56285369	0.84[EUR][1000 genomes]
rs56335449	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62574323	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62574346	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7047684	0.84[CEU][hapmap]
rs7849645	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7858520	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7872984	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893589	chr9:96624645-96884544	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv824993	chr9:96699362-96725105	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv893590	chr9:96701287-96729129	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12684081	OGN	cis	cerebellum	SCAN
rs12684081	C9orf3	cis	parietal	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96711600-96715600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
2	chr9:96713000-96715800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
3	chr9:96713000-96717000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
4	chr9:96713200-96715000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:96713200-96715000	Bivalent Enhancer	Fetal Heart	heart
6	chr9:96713200-96716400	Bivalent Enhancer	Fetal Brain Male	brain
7	chr9:96713600-96716400	Weak transcription	Hela-S3	cervix
8	chr9:96713800-96715000	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr9:96713800-96715200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:96713800-96715200	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr9:96713800-96715200	Bivalent Enhancer	Placenta	Placenta
12	chr9:96713800-96715800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:96713800-96715800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:96713800-96716000	Bivalent Enhancer	Fetal Lung	lung
15	chr9:96713800-96716400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr9:96713800-96716600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr9:96713800-96716800	Bivalent Enhancer	Brain Germinal Matrix	brain
18	chr9:96713800-96716800	Bivalent Enhancer	Brain Substantia Nigra	brain
19	chr9:96713800-96717000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr9:96713800-96717200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:96713800-96717400	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr9:96713800-96717800	Bivalent Enhancer	Liver	Liver
23	chr9:96713800-96718400	Bivalent Enhancer	Lung	lung
24	chr9:96714000-96715000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr9:96714000-96715000	Strong transcription	Osteobl	bone
26	chr9:96714000-96715200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
27	chr9:96714200-96715000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr9:96714200-96715200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr9:96714200-96715200	Bivalent Enhancer	Colonic Mucosa	Colon
30	chr9:96714200-96715200	Bivalent Enhancer	Fetal Brain Female	brain
31	chr9:96714200-96715400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr9:96714200-96715600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
33	chr9:96714200-96715800	Bivalent Enhancer	Left Ventricle	heart
34	chr9:96714200-96716000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:96714200-96716200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
36	chr9:96714200-96716400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr9:96714200-96716600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:96714200-96717200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr9:96714200-96717400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr9:96714200-96717800	Enhancers	Pancreas	Pancrea
41	chr9:96714400-96715000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
42	chr9:96714400-96715200	Flanking Active TSS	Right Ventricle	heart
43	chr9:96714400-96715600	Enhancers	Ovary	ovary
44	chr9:96714400-96715800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
45	chr9:96714400-96716000	Bivalent Enhancer	Brain Angular Gyrus	brain
46	chr9:96714400-96716200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
47	chr9:96714400-96717000	Bivalent Enhancer	Adipose Nuclei	Adipose
48	chr9:96714400-96717200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr9:96714600-96715000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
50	chr9:96714600-96715000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

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