Variant report

Variant	rs10281544
Chromosome Location	chr7:66092708-66092709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr7:66092269-66092716	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:66092656-66094245	H1-hESC	embryonic stem cell:	n/a	n/a
3	PBX3	chr7:66092602-66092711	GM12878	blood:	n/a	n/a
4	EP300	chr7:66091491-66096076	SK-N-SH	brain:	n/a	chr7:66093761-66093770 chr7:66094701-66094715 chr7:66093402-66093418 chr7:66094696-66094710 chr7:66093421-66093437
5	ZNF384	chr7:66092464-66092766	GM12878	blood:	n/a	n/a
6	MYC	chr7:66092241-66092727	NB4	blood:	n/a	n/a
7	POLR2A	chr7:66092533-66094386	HepG2	liver:	n/a	n/a
8	MAX	chr7:66092102-66092730	NB4	blood:	n/a	n/a
9	POLR2A	chr7:66091849-66094789	IMR90	lung:	n/a	n/a
10	MXI1	chr7:66091233-66095157	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:66054686..66058308-chr7:66092199..66095155,8	MCF-7	breast:
2	chr7:66065925..66067738-chr7:66091765..66093864,2	MCF-7	breast:
3	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:
4	chr7:66091926..66093448-chr7:66145464..66148372,2	K562	blood:
5	chr7:66081713..66084655-chr7:66091720..66093835,2	K562	blood:
6	chr7:66092683..66094985-chr7:66385486..66387762,2	K562	blood:
7	chr7:66091844..66094640-chr7:66118336..66122170,5	MCF-7	breast:
8	chr7:66091921..66093533-chr7:66126836..66128952,2	K562	blood:
9	chr18:60188960..60191290-chr7:66092438..66094861,2	MCF-7	breast:
10	chr7:66092456..66095854-chr7:66117562..66119715,4	MCF-7	breast:

No data

Variant related genes	Relation type
KCTD7	TF binding region
ENSG00000226824	Chromatin interaction
ENSG00000141664	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000232559	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10081172	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10224536	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10225392	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10226294	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10228381	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10229580	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10231860	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10235037	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10236665	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10237244	0.84[EUR][1000 genomes]
rs10239200	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10240153	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10240582	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10241395	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10243608	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10244459	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10244602	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10247324	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10247852	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10252133	0.84[EUR][1000 genomes]
rs10255813	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10256117	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10257393	0.84[EUR][1000 genomes]
rs10264619	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10265154	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10266041	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10267834	0.87[EUR][1000 genomes]
rs10270326	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10271177	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10273320	0.88[EUR][1000 genomes]
rs10273402	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10275413	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10277231	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10278343	0.88[EUR][1000 genomes]
rs10278763	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10280431	0.83[EUR][1000 genomes]
rs10280717	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10281734	0.84[EUR][1000 genomes]
rs10282522	0.84[EUR][1000 genomes]
rs10479728	0.88[EUR][1000 genomes]
rs1060527	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12234826	0.88[EUR][1000 genomes]
rs12333749	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12334214	0.84[EUR][1000 genomes]
rs13437901	0.84[EUR][1000 genomes]
rs16868546	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17138208	0.84[EUR][1000 genomes]
rs17138274	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1882656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1882657	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1895134	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2013707	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2420598	0.84[EUR][1000 genomes]
rs28368585	0.88[EUR][1000 genomes]
rs28375318	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28379824	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28455065	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28474923	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28526115	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28533332	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28547918	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28606020	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28607736	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28615327	0.81[EUR][1000 genomes]
rs28634091	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28657758	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28663128	0.87[EUR][1000 genomes]
rs3757419	0.81[EUR][1000 genomes]
rs3764904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3778908	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3800814	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3814464	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3823607	0.84[EUR][1000 genomes]
rs3962133	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4587218	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57902746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58123804	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58973756	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59079543	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60344524	0.83[ASN][1000 genomes]
rs61093354	0.80[EUR][1000 genomes]
rs61700307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6949083	0.84[EUR][1000 genomes]
rs6964080	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6973897	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6974601	0.88[EUR][1000 genomes]
rs73133809	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133816	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73133851	0.89[EUR][1000 genomes]
rs73133859	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73133865	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135909	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135950	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135960	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135973	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73137960	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73137963	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73137978	0.85[ASN][1000 genomes]
rs73139941	0.84[EUR][1000 genomes]
rs73139976	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73148698	0.80[EUR][1000 genomes]
rs73152719	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9654843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10281544	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx
rs10281544	GS1-124K5.12	cis	Artery Tibial	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66086800-66092800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:66087600-66092800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:66089800-66092800	Enhancers	Placenta	Placenta
4	chr7:66090200-66092800	Weak transcription	Stomach Mucosa	stomach
5	chr7:66090400-66092800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:66090600-66093000	Enhancers	NHLF	lung
7	chr7:66090800-66092800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:66091400-66092800	Enhancers	Osteobl	bone
9	chr7:66091400-66093000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:66091600-66092800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:66091800-66092800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:66091800-66092800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:66091800-66092800	Enhancers	Fetal Stomach	stomach
14	chr7:66091800-66093000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:66092000-66092800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:66092000-66092800	Enhancers	Hela-S3	cervix
17	chr7:66092000-66094400	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr7:66092200-66092800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr7:66092200-66092800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr7:66092200-66092800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:66092200-66092800	Enhancers	Adipose Nuclei	Adipose
22	chr7:66092200-66092800	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:66092200-66092800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr7:66092200-66092800	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:66092200-66092800	Enhancers	Duodenum Mucosa	Duodenum
26	chr7:66092200-66092800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:66092200-66092800	Enhancers	Pancreas	Pancrea
28	chr7:66092200-66092800	Enhancers	K562	blood
29	chr7:66092200-66092800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr7:66092200-66093200	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr7:66092200-66094600	Active TSS	Brain Anterior Caudate	brain
32	chr7:66092200-66094800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:66092400-66092800	Enhancers	Primary hematopoietic stem cells	blood
34	chr7:66092400-66092800	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr7:66092400-66092800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr7:66092400-66092800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:66092400-66092800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:66092400-66092800	Enhancers	Fetal Intestine Small	intestine
39	chr7:66092400-66092800	Bivalent Enhancer	Fetal Thymus	thymus
40	chr7:66092400-66092800	Bivalent Enhancer	Thymus	Thymus
41	chr7:66092400-66093000	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr7:66092400-66093200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr7:66092400-66093200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:66092400-66094400	Active TSS	Primary T cells from cord blood	blood
45	chr7:66092400-66094800	Active TSS	Brain Angular Gyrus	brain
46	chr7:66092400-66094800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr7:66092400-66094800	Active TSS	Rectal Smooth Muscle	rectum
48	chr7:66092400-66095000	Active TSS	A549	lung
49	chr7:66092400-66095200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr7:66092600-66092800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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