Variant report

Variant	rs10226294
Chromosome Location	chr7:66058336-66058337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:66055210-66058700	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:66057808-66058402	K562	blood:	n/a	n/a
3	CBX3	chr7:66058028-66058729	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66055738..66058439-chr7:66119494..66121209,2	MCF-7	breast:
2	chr7:66057440..66059000-chr7:66060580..66062147,2	K562	blood:
3	chr7:66055516..66058509-chr7:66093670..66096346,2	MCF-7	breast:
4	chr7:66055703..66058887-chr7:66117840..66121190,6	MCF-7	breast:
5	chr7:66051779..66054394-chr7:66057602..66059398,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232559	TF binding region
ENSG00000243335	Chromatin interaction
ENSG00000226824	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10081172	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10224536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10225392	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10228381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10229580	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10231860	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10235037	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10236665	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10237244	1.00[CEU][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];0.88[EUR][1000 genomes]
rs10239200	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10240153	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10240582	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10241395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10243608	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10244459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10244602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10247324	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10247852	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10252133	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10255813	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256117	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10262184	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10264619	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10265154	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10266041	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10267834	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10270326	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10271177	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10273320	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10273402	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10275413	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10277231	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10278343	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10278763	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10280431	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10280717	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10281544	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10281734	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10282522	1.00[CEU][hapmap]
rs10479728	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1060527	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12234826	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12333749	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12334214	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13437901	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs16868546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17138208	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17138274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1862086	0.84[EUR][1000 genomes]
rs1882656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1882657	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1895134	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2420598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs28368585	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs28375318	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28379824	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28455065	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28474923	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28526115	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28547918	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28606020	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28607736	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28615327	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs28634091	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28657758	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28663128	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3757419	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3764904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3778908	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3800814	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3814464	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3962133	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4518552	0.82[EUR][1000 genomes]
rs4587218	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57902746	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58123804	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58973756	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59079543	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60344524	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61093354	0.85[EUR][1000 genomes]
rs61700307	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6949083	0.86[EUR][1000 genomes]
rs6964080	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6973897	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6974601	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73133809	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73133816	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73133851	0.83[EUR][1000 genomes]
rs73133859	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73133865	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135905	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135907	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135909	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135917	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135922	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135925	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135950	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135960	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135973	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73137960	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73137963	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73137978	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73148698	0.82[EUR][1000 genomes]
rs73152719	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73152725	0.82[EUR][1000 genomes]
rs9654843	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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 target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10226294	ZNF273	cis	parietal	SCAN
rs10226294	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx
rs10226294	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs10226294	GUSB	cis	cerebellum	SCAN
rs10226294	CRCP	cis	parietal	SCAN
rs10226294	GS1-124K5.12	cis	Artery Tibial	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66057400-66058400	Flanking Active TSS	Dnd41	blood
2	chr7:66057600-66058400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:66057600-66058400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr7:66057600-66058600	Enhancers	Pancreas	Pancrea
5	chr7:66057600-66067600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:66057800-66058400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:66057800-66058400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:66057800-66058400	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:66057800-66058400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr7:66057800-66058400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr7:66057800-66058400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:66057800-66058400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:66057800-66058400	Enhancers	Brain Angular Gyrus	brain
14	chr7:66057800-66058400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:66057800-66058600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:66057800-66058600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:66057800-66058600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:66057800-66058600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:66057800-66058600	Enhancers	K562	blood
20	chr7:66058000-66058400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:66058000-66058400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:66058000-66058400	Enhancers	Fetal Brain Female	brain
23	chr7:66058000-66058600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:66058000-66058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:66058000-66058600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:66058000-66060400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:66058000-66062000	Weak transcription	Colonic Mucosa	Colon
28	chr7:66058000-66067600	Weak transcription	Lung	lung
29	chr7:66058200-66058400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:66058200-66058400	Enhancers	Brain Hippocampus Middle	brain
31	chr7:66058200-66058600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:66058200-66058600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr7:66058200-66058600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr7:66058200-66058600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:66058200-66058600	Enhancers	NHDF-Ad	bronchial
36	chr7:66058200-66060000	Weak transcription	Brain Substantia Nigra	brain
37	chr7:66058200-66061600	Weak transcription	Fetal Intestine Large	intestine
38	chr7:66058200-66061600	Weak transcription	HepG2	liver
39	chr7:66058200-66062200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr7:66058200-66067000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:66058200-66068800	Weak transcription	Stomach Smooth Muscle	stomach

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