Variant report

Variant	rs10278763
Chromosome Location	chr7:66039408-66039409
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66039081..66041475-chr7:66044716..66046904,2	K562	blood:
2	chr7:66030313..66032213-chr7:66037914..66039587,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10081172	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10224536	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10225392	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10226294	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10228381	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10229580	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10231860	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10235037	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10236665	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10237244	0.89[EUR][1000 genomes]
rs10239200	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240153	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10240582	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10241395	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10243608	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10244459	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10244602	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247852	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10252133	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10255813	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10256117	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10257393	0.81[EUR][1000 genomes]
rs10262184	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10264619	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10265154	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10266041	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10267834	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10270326	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10271177	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10273320	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10273402	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10275413	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10277231	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10278343	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10280431	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10280717	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10281544	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10281734	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10282522	0.81[EUR][1000 genomes]
rs10479728	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12234826	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12333749	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12334214	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13437901	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16868546	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17138208	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17138274	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1862086	0.83[EUR][1000 genomes]
rs1882656	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1882657	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1895134	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2420598	0.87[EUR][1000 genomes]
rs28368585	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28375318	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28379824	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28455065	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28474923	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28526115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28606020	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28607736	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28615327	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs28634091	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28657758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28663128	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3757419	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3764904	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3800814	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3814464	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3823607	0.81[EUR][1000 genomes]
rs3962133	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4518552	0.83[EUR][1000 genomes]
rs4587218	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57902746	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58123804	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58973756	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59079543	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60344524	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61093354	0.86[EUR][1000 genomes]
rs61700307	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6949083	0.87[EUR][1000 genomes]
rs6964080	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6973897	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6974601	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73133809	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133816	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73133851	0.84[EUR][1000 genomes]
rs73133859	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73133865	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73135905	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73135907	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73135909	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73135917	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73135922	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73135925	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73135950	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73135960	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73135973	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73137960	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73137963	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73137978	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73139941	0.81[EUR][1000 genomes]
rs73148698	0.84[EUR][1000 genomes]
rs73152708	0.81[EUR][1000 genomes]
rs73152719	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73152725	0.83[EUR][1000 genomes]
rs9654843	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
8	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
9	nsv970868	chr7:66035219-66056610	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	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
rs10278763	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx
rs10278763	GS1-124K5.12	cis	Artery Tibial	GTEx
rs10278763	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66004400-66052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:66008600-66056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:66011600-66045000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:66021800-66056400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:66023000-66040800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:66023000-66041800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:66023200-66043800	Weak transcription	Fetal Heart	heart
8	chr7:66023200-66044400	Weak transcription	Right Atrium	heart
9	chr7:66023200-66048400	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:66023200-66049800	Weak transcription	Stomach Mucosa	stomach
11	chr7:66023200-66055400	Weak transcription	Fetal Brain Male	brain
12	chr7:66023600-66042200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr7:66024000-66046400	Weak transcription	NHLF	lung
14	chr7:66024200-66040400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:66024200-66051200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:66024200-66055400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:66024200-66055600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:66024400-66051600	Weak transcription	Spleen	Spleen
19	chr7:66027600-66042400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr7:66028600-66042000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:66028800-66042000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:66028800-66042000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr7:66029000-66041400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:66029000-66042000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:66029000-66042800	Strong transcription	Dnd41	blood
26	chr7:66029400-66046200	Weak transcription	Pancreas	Pancrea
27	chr7:66030400-66040400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:66030600-66042600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:66031000-66041800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:66031200-66040000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:66031400-66042000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:66031600-66045200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:66032200-66040000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:66032400-66041600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:66032600-66041600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:66032800-66039800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:66033000-66043400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:66033200-66042000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:66033600-66042000	Strong transcription	Fetal Intestine Large	intestine
40	chr7:66033600-66042200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:66033800-66041800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:66033800-66041800	Strong transcription	Adipose Nuclei	Adipose
43	chr7:66034200-66042000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr7:66034800-66039600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr7:66034800-66046400	Weak transcription	A549	lung
46	chr7:66035000-66040000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:66035000-66041400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr7:66035400-66040000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr7:66035400-66042000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:66035600-66041000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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