Variant report

Variant	rs10986060
Chromosome Location	chr9:101136989-101136990
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101136620..101139249-chr9:101156990..101158557,2	K562	blood:
2	chr9:101135605..101137145-chr9:101138879..101140848,2	K562	blood:
3	chr9:101125220..101129376-chr9:101135603..101141784,6	K562	blood:
4	chr9:101127682..101131370-chr9:101135028..101139404,5	K562	blood:
5	chr9:101125471..101127480-chr9:101134828..101138522,3	K562	blood:
6	chr9:101131978..101133928-chr9:101135656..101138427,3	K562	blood:
7	chr9:101130044..101133928-chr9:101135656..101137826,5	K562	blood:
8	chr9:101134634..101137375-chr9:101146278..101148960,2	K562	blood:
9	chr9:101135309..101137051-chr9:101137273..101139774,2	K562	blood:

No data

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10115570	0.93[CEU][hapmap]
rs10122943	0.93[CEU][hapmap];1.00[MEX][hapmap]
rs10818821	0.81[ASN][1000 genomes]
rs10818828	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10818832	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10818833	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10818876	0.93[CEU][hapmap];1.00[MEX][hapmap]
rs10986017	0.82[JPT][hapmap]
rs10986039	0.86[ASN][1000 genomes]
rs10986041	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10986044	1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10986073	0.82[JPT][hapmap]
rs10986084	0.93[CEU][hapmap];1.00[MEX][hapmap]
rs12340823	1.00[CEU][hapmap]
rs12340940	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352641	0.93[CEU][hapmap]
rs12352643	0.93[CEU][hapmap];1.00[MEX][hapmap]
rs16915331	1.00[CEU][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs16915442	0.82[JPT][hapmap]
rs17696686	0.93[CEU][hapmap]
rs17768880	1.00[CEU][hapmap]
rs2304388	0.93[CEU][hapmap]
rs3780421	0.93[CEU][hapmap]
rs3780428	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs3780429	0.80[ASN][1000 genomes]
rs3780430	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs3780432	0.82[JPT][hapmap]
rs487910	0.96[CHD][hapmap]
rs531529	0.80[CHD][hapmap]
rs552989	0.88[CHD][hapmap];0.82[JPT][hapmap]
rs567931	1.00[CHD][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs585819	0.96[CHD][hapmap];0.82[JPT][hapmap]
rs648085	1.00[CHD][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs659768	0.80[CHD][hapmap]
rs660148	0.80[CHD][hapmap]
rs661105	0.88[CHD][hapmap];0.82[JPT][hapmap];0.81[LWK][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs661532	0.88[CHD][hapmap];0.82[JPT][hapmap];0.85[LWK][hapmap];0.82[MKK][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes]
rs7029062	0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs7031472	0.93[CEU][hapmap]
rs7032844	0.93[CEU][hapmap];1.00[MEX][hapmap]
rs7042831	0.85[CEU][hapmap]
rs7044824	0.93[CEU][hapmap];1.00[MEX][hapmap]
rs7044961	0.93[CEU][hapmap]
rs7046871	0.93[CEU][hapmap]
rs7047634	0.82[JPT][hapmap]
rs724890	0.93[CEU][hapmap]
rs9886725	0.93[CEU][hapmap];1.00[MEX][hapmap]
rs9886874	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831664	chr9:101024862-101205637	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10986060	GALNT12	cis	cerebellum	SCAN
rs10986060	WDR8	trans	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101126600-101142600	Weak transcription	Brain Angular Gyrus	brain
2	chr9:101128200-101164200	Weak transcription	Brain Germinal Matrix	brain
3	chr9:101129000-101156000	Weak transcription	Fetal Brain Female	brain
4	chr9:101132800-101142800	Weak transcription	Right Atrium	heart
5	chr9:101133400-101138000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr9:101133400-101139400	Enhancers	Pancreas	Pancrea
7	chr9:101133400-101142400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:101134200-101142600	Enhancers	Fetal Intestine Large	intestine
9	chr9:101134400-101142400	Enhancers	Fetal Intestine Small	intestine
10	chr9:101134600-101139400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:101134800-101140000	Weak transcription	Spleen	Spleen
12	chr9:101134800-101142400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:101134800-101143000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:101135200-101138400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:101135600-101137000	Enhancers	HSMM	muscle
16	chr9:101135600-101137600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:101135600-101137800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:101135600-101138200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:101135800-101137000	Weak transcription	Fetal Muscle Leg	muscle
20	chr9:101135800-101138000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:101135800-101138000	Enhancers	NHLF	lung
22	chr9:101135800-101138200	Enhancers	HUVEC	blood vessel
23	chr9:101135800-101140000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr9:101136000-101138400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:101136400-101137800	Enhancers	Stomach Mucosa	stomach
26	chr9:101136400-101138000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:101136600-101137000	Active TSS	Duodenum Mucosa	Duodenum
28	chr9:101136600-101137000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr9:101136600-101137200	Enhancers	A549	lung
30	chr9:101136600-101137200	Enhancers	HepG2	liver
31	chr9:101136600-101137400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr9:101136600-101137400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:101136600-101137400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:101136600-101137400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr9:101136600-101137600	Enhancers	Fetal Heart	heart
36	chr9:101136600-101137800	Enhancers	HMEC	breast
37	chr9:101136600-101137800	Enhancers	HSMMtube	muscle
38	chr9:101136600-101137800	Flanking Active TSS	K562	blood
39	chr9:101136600-101138000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:101136600-101138000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:101136800-101137000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr9:101136800-101137000	Flanking Active TSS	NHDF-Ad	bronchial
43	chr9:101136800-101137400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr9:101136800-101137400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr9:101136800-101137400	Enhancers	Left Ventricle	heart
46	chr9:101136800-101137600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr9:101136800-101137600	Flanking Active TSS	NH-A	brain
48	chr9:101136800-101137600	Flanking Active TSS	Osteobl	bone
49	chr9:101136800-101137800	Enhancers	Gastric	stomach
50	chr9:101136800-101137800	Enhancers	NHEK	skin

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