Variant report

Variant	rs73152719
Chromosome Location	chr7:66009263-66009264
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	POLR2A	chr7:66009247-66009290	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:66007626-66009542	K562	blood:	n/a	n/a
3	POLR2A	chr7:66008872-66009487	K562	blood:	n/a	n/a
4	POLR2A	chr7:66009263-66009394	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000229180	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10081172	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224536	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10225392	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10226294	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10228381	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10229580	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10231860	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10235037	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10236665	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10237244	0.82[EUR][1000 genomes]
rs10239200	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10240153	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10240582	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10243608	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10244602	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10247852	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10252133	0.82[EUR][1000 genomes]
rs10255813	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10256117	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10264619	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265154	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10266041	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10270326	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10271177	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10273402	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10275413	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10277231	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10278763	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10280431	0.83[EUR][1000 genomes]
rs10280717	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10281544	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10281734	0.82[EUR][1000 genomes]
rs12333749	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13437901	0.82[EUR][1000 genomes]
rs16868546	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138208	0.82[EUR][1000 genomes]
rs17138274	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1862086	0.91[EUR][1000 genomes]
rs1882656	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1882657	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1895134	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420598	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28375318	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28455065	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28474923	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28526115	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28606020	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28607736	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28657758	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3757417	0.83[EUR][1000 genomes]
rs3764904	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3814464	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3962133	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4518552	0.88[EUR][1000 genomes]
rs4587218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57902746	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58123804	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58973756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59079543	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60344524	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61093354	0.83[EUR][1000 genomes]
rs61700307	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6949083	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6964080	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6973897	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73133809	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73133816	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133859	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73133865	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135905	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135907	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135909	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135917	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135922	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135925	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135950	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135960	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135973	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73137960	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73137963	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73137978	0.85[ASN][1000 genomes]
rs73148698	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73152708	0.86[EUR][1000 genomes]
rs73152725	0.88[EUR][1000 genomes]
rs9654843	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
7	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised 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	29 gene(s)	inside rSNPs	diseases
10	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv967444	chr7:65992587-66013934	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73152719	GS1-124K5.12	cis	Artery Tibial	GTEx
rs73152719	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs73152719	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65991200-66009800	Weak transcription	Small Intestine	intestine
2	chr7:65993600-66009400	Weak transcription	HSMM	muscle
3	chr7:65994000-66014400	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:65995000-66010000	Weak transcription	Fetal Lung	lung
5	chr7:65995000-66017200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:65999800-66022400	Strong transcription	Fetal Stomach	stomach
7	chr7:66000600-66019200	Weak transcription	Fetal Kidney	kidney
8	chr7:66000800-66016600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:66001200-66014400	Weak transcription	A549	lung
10	chr7:66001400-66022400	Weak transcription	Stomach Mucosa	stomach
11	chr7:66002800-66016000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:66003600-66018800	Weak transcription	GM12878-XiMat	blood
13	chr7:66003800-66022200	Strong transcription	Stomach Smooth Muscle	stomach
14	chr7:66003800-66022800	Strong transcription	Fetal Intestine Small	intestine
15	chr7:66004200-66010000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:66004200-66012400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:66004400-66010400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:66004400-66011000	Strong transcription	Spleen	Spleen
19	chr7:66004400-66052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:66004600-66016600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:66004800-66015400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:66004800-66019200	Weak transcription	HUVEC	blood vessel
23	chr7:66004800-66037200	Weak transcription	Psoas Muscle	Psoas
24	chr7:66005000-66010000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:66005000-66014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:66005000-66016800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:66005200-66016600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:66005200-66022400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr7:66005800-66016800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:66006000-66020000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:66006000-66022200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:66006200-66010200	Strong transcription	Right Ventricle	heart
33	chr7:66006200-66010800	Strong transcription	Fetal Brain Female	brain
34	chr7:66006200-66010800	Strong transcription	Gastric	stomach
35	chr7:66006200-66010800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:66006200-66011000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:66006200-66011000	Strong transcription	Primary T cells from cord blood	blood
38	chr7:66006200-66011000	Strong transcription	Placenta	Placenta
39	chr7:66006200-66011600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:66006200-66011800	Strong transcription	Pancreas	Pancrea
41	chr7:66006200-66011800	Strong transcription	Dnd41	blood
42	chr7:66006200-66013800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:66006200-66019400	Strong transcription	Adipose Nuclei	Adipose
44	chr7:66006200-66021000	Strong transcription	Fetal Intestine Large	intestine
45	chr7:66006200-66022200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:66006200-66022400	Strong transcription	Lung	lung
47	chr7:66006200-66022600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:66006200-66024400	Strong transcription	Fetal Muscle Leg	muscle
49	chr7:66006200-66024400	Strong transcription	Thymus	Thymus
50	chr7:66006400-66022800	Strong transcription	Brain Germinal Matrix	brain

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