Variant report

Variant	rs10750784
Chromosome Location	chr11:66110666-66110667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66110596-66110740	HepG2	liver:	n/a	n/a
2	MAFK	chr11:66110623-66110923	IMR90	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66084372..66086380-chr11:66109864..66112582,2	MCF-7	breast:
2	chr11:66043530..66045792-chr11:66110035..66112602,2	MCF-7	breast:
3	chr11:66108839..66110813-chr11:66110934..66112585,3	K562	blood:
4	chr11:66108764..66111622-chr11:66204863..66206886,2	K562	blood:
5	chr11:66108426..66118730-chr11:66133678..66141000,25	MCF-7	breast:
6	chr11:66056831..66061115-chr11:66109718..66114909,6	MCF-7	breast:
7	chr11:66054162..66056937-chr11:66109546..66111530,2	K562	blood:
8	chr11:66077296..66081246-chr11:66109722..66112526,4	K562	blood:
9	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:
10	chr11:66079011..66083261-chr11:66109999..66114385,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255468	TF binding region
BRMS1	TF binding region
ENSG00000179292	Chromatin interaction
ENSG00000254452	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000174807	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000174669	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1039594	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1047029	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10791869	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10791872	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10791874	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10791876	0.88[EUR][1000 genomes]
rs10896111	0.89[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896112	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10896115	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10896116	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227465	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11601396	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11823140	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12416747	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12576299	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12577196	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12785321	0.85[EUR][1000 genomes]
rs12785651	0.96[CEU][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs12786563	0.96[CEU][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs12794121	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1546358	0.87[EUR][1000 genomes]
rs1784029	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1785633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1785639	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1892940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2279861	1.00[CEU][hapmap];0.83[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2279862	1.00[CEU][hapmap];0.83[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2282530	0.96[CEU][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs2282531	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3016767	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3177514	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34043951	0.86[EUR][1000 genomes]
rs4244813	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4466842	0.88[CEU][hapmap]
rs4930177	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4930178	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4930179	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4930181	0.87[EUR][1000 genomes]
rs4930360	0.86[EUR][1000 genomes]
rs4930362	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4930363	0.87[EUR][1000 genomes]
rs4930366	0.85[EUR][1000 genomes]
rs4930368	0.96[CEU][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs55998145	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56123976	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56321771	0.87[EUR][1000 genomes]
rs61891449	0.92[EUR][1000 genomes]
rs6591213	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6591215	0.87[EUR][1000 genomes]
rs6591217	0.88[EUR][1000 genomes]
rs66810040	0.82[EUR][1000 genomes]
rs7104253	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7104570	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7105015	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7105401	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7107191	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7110944	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7117630	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7126018	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73489638	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7938676	0.86[EUR][1000 genomes]
rs7939111	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7940980	0.87[EUR][1000 genomes]
rs905770	1.00[CEU][hapmap];0.83[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs947978	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv3328878	chr11:66107076-66111474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	nsv897783	chr11:66107527-66118676	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs10750784	CCDC87	cis	parietal	SCAN
rs10750784	OVOL1	cis	parietal	SCAN
rs10750784	SCYL1	cis	lymphoblastoid	seeQTL
rs10750784	ESRRA	cis	cerebellum	SCAN
rs10750784	SLC25A45	cis	parietal	SCAN
rs10750784	ALDH3B1	cis	parietal	SCAN
rs10750784	SNX32	cis	parietal	SCAN
rs10750784	ASRGL1	cis	parietal	SCAN
rs10750784	RIN1	cis	multi-tissue	Pritchard
rs10750784	RIN1	cis	Whole Blood	GTEx
rs10750784	RP11-867G23.12	cis	Whole Blood	GTEx
rs10750784	ACTN3	cis	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66104600-66110800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:66104600-66111600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:66104800-66110800	Strong transcription	Adipose Nuclei	Adipose
4	chr11:66104800-66110800	Strong transcription	Brain Cingulate Gyrus	brain
5	chr11:66104800-66110800	Weak transcription	Psoas Muscle	Psoas
6	chr11:66104800-66111000	Strong transcription	Primary T cells from cord blood	blood
7	chr11:66104800-66111200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:66104800-66111200	Strong transcription	Placenta	Placenta
9	chr11:66105000-66111000	Strong transcription	Duodenum Mucosa	Duodenum
10	chr11:66105000-66111000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:66105000-66111200	Strong transcription	Fetal Intestine Small	intestine
12	chr11:66105200-66110800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr11:66105200-66110800	Strong transcription	Brain Germinal Matrix	brain
14	chr11:66105200-66110800	Strong transcription	Fetal Stomach	stomach
15	chr11:66105200-66111000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:66105200-66111000	Strong transcription	Fetal Thymus	thymus
17	chr11:66105200-66111000	Strong transcription	Thymus	Thymus
18	chr11:66105200-66111200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:66105400-66110800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:66105400-66110800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:66105400-66111000	Strong transcription	Spleen	Spleen
22	chr11:66105400-66111600	Weak transcription	HUVEC	blood vessel
23	chr11:66105600-66110800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:66105600-66110800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr11:66105600-66110800	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:66105600-66111200	Strong transcription	Fetal Brain Female	brain
27	chr11:66105800-66111400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:66106000-66111000	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:66106200-66110800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:66106200-66110800	Strong transcription	Primary B cells from cord blood	blood
31	chr11:66106400-66111200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:66106400-66111400	Weak transcription	Small Intestine	intestine
33	chr11:66106600-66110800	Strong transcription	Brain Angular Gyrus	brain
34	chr11:66106800-66110800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:66107000-66111000	Strong transcription	Osteobl	bone
36	chr11:66107800-66110800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr11:66109200-66111000	Strong transcription	HSMM	muscle
38	chr11:66109200-66111400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:66109400-66111200	Weak transcription	Stomach Mucosa	stomach
40	chr11:66109600-66110800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:66109600-66110800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:66109600-66110800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:66109600-66111000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:66109600-66111000	Strong transcription	Gastric	stomach
45	chr11:66109600-66111200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:66109600-66111200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:66109600-66111200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:66109600-66111200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr11:66109600-66111400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:66109600-66111400	Weak transcription	Brain Substantia Nigra	brain

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