Variant report

Variant	rs7874449
Chromosome Location	chr9:102752182-102752183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10116798	0.86[ASN][1000 genomes]
rs10117150	0.86[ASN][1000 genomes]
rs1014651	0.86[ASN][1000 genomes]
rs1014652	0.83[ASN][1000 genomes]
rs10156395	0.83[ASN][1000 genomes]
rs10739795	0.93[ASN][1000 genomes]
rs10739796	0.84[ASN][1000 genomes]
rs10760710	0.93[ASN][1000 genomes]
rs10760711	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10760712	0.93[ASN][1000 genomes]
rs10760720	0.86[ASN][1000 genomes]
rs10819714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10819715	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10819716	0.93[ASN][1000 genomes]
rs10819717	0.93[ASN][1000 genomes]
rs10819719	0.91[ASN][1000 genomes]
rs10819737	0.86[ASN][1000 genomes]
rs10819739	0.89[ASN][1000 genomes]
rs10988934	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10988945	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10988963	0.93[ASN][1000 genomes]
rs10988968	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10988969	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10988973	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10988974	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10989009	0.86[ASN][1000 genomes]
rs1099910	0.83[ASN][1000 genomes]
rs11555502	0.85[ASN][1000 genomes]
rs12336751	0.86[ASN][1000 genomes]
rs12552646	0.93[ASN][1000 genomes]
rs12685650	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13301295	0.86[ASN][1000 genomes]
rs1338119	0.83[ASN][1000 genomes]
rs1342147	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1361668	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1406613	0.93[ASN][1000 genomes]
rs1415926	0.84[ASN][1000 genomes]
rs1418267	0.93[ASN][1000 genomes]
rs1529191	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1529192	0.93[ASN][1000 genomes]
rs1529193	0.93[ASN][1000 genomes]
rs1534726	0.91[ASN][1000 genomes]
rs1535667	0.93[ASN][1000 genomes]
rs1539297	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1572607	0.88[ASN][1000 genomes]
rs1578644	0.93[ASN][1000 genomes]
rs1578645	0.93[ASN][1000 genomes]
rs1578646	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1852864	0.93[ASN][1000 genomes]
rs1852865	0.93[ASN][1000 genomes]
rs1891334	0.84[ASN][1000 genomes]
rs1999877	0.86[ASN][1000 genomes]
rs2057476	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2093696	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2096158	0.93[ASN][1000 genomes]
rs2104273	0.93[ASN][1000 genomes]
rs2181579	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2209082	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2476439	0.89[ASN][1000 genomes]
rs2476441	0.86[ASN][1000 genomes]
rs2476442	0.86[ASN][1000 genomes]
rs2491095	0.83[ASN][1000 genomes]
rs2491096	0.83[ASN][1000 genomes]
rs2698999	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2761053	0.89[ASN][1000 genomes]
rs2761056	0.89[ASN][1000 genomes]
rs2787361	0.89[ASN][1000 genomes]
rs2787363	0.81[ASN][1000 genomes]
rs2787364	0.84[ASN][1000 genomes]
rs2787365	0.83[ASN][1000 genomes]
rs2787366	0.89[ASN][1000 genomes]
rs2787393	0.81[ASN][1000 genomes]
rs2787396	0.81[ASN][1000 genomes]
rs2791335	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2791336	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2791337	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2795575	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2806681	0.84[ASN][1000 genomes]
rs2806682	0.83[ASN][1000 genomes]
rs2806683	0.81[ASN][1000 genomes]
rs2806684	0.84[ASN][1000 genomes]
rs2806685	0.81[ASN][1000 genomes]
rs2806687	0.81[ASN][1000 genomes]
rs28448789	0.93[ASN][1000 genomes]
rs35493819	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3824510	0.83[ASN][1000 genomes]
rs41346545	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4495492	0.89[ASN][1000 genomes]
rs4503155	0.93[ASN][1000 genomes]
rs4517187	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4742779	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743375	0.93[ASN][1000 genomes]
rs4743376	0.93[ASN][1000 genomes]
rs4743378	0.83[ASN][1000 genomes]
rs4743379	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743380	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743381	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743382	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743384	0.85[ASN][1000 genomes]
rs4743386	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6478991	0.93[ASN][1000 genomes]
rs6478994	0.93[ASN][1000 genomes]
rs6478995	0.93[ASN][1000 genomes]
rs6478996	0.93[ASN][1000 genomes]
rs6478997	0.93[ASN][1000 genomes]
rs6478998	0.93[ASN][1000 genomes]
rs6479000	0.93[ASN][1000 genomes]
rs6479001	0.89[ASN][1000 genomes]
rs6479002	0.89[ASN][1000 genomes]
rs7018981	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7022493	0.93[ASN][1000 genomes]
rs7024016	0.93[ASN][1000 genomes]
rs7025300	0.93[ASN][1000 genomes]
rs7026532	0.93[ASN][1000 genomes]
rs7027414	0.93[ASN][1000 genomes]
rs7029020	0.93[ASN][1000 genomes]
rs7029048	0.93[ASN][1000 genomes]
rs7032333	0.93[ASN][1000 genomes]
rs7033091	0.93[ASN][1000 genomes]
rs7036518	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7037362	0.93[ASN][1000 genomes]
rs7041338	0.93[ASN][1000 genomes]
rs7042194	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7042912	0.93[ASN][1000 genomes]
rs7043057	0.93[ASN][1000 genomes]
rs7044219	0.93[ASN][1000 genomes]
rs7045612	0.83[ASN][1000 genomes]
rs7047092	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7846794	0.89[ASN][1000 genomes]
rs7847213	0.89[ASN][1000 genomes]
rs7853485	0.91[ASN][1000 genomes]
rs7856844	0.89[ASN][1000 genomes]
rs7857530	0.93[ASN][1000 genomes]
rs7858606	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7859492	0.84[ASN][1000 genomes]
rs7861003	0.89[ASN][1000 genomes]
rs7862460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7870585	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs846752	0.86[ASN][1000 genomes]
rs846753	0.84[ASN][1000 genomes]
rs846754	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs846755	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs846756	0.89[ASN][1000 genomes]
rs846758	0.89[ASN][1000 genomes]
rs846759	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs846761	0.89[ASN][1000 genomes]
rs846762	0.95[ASN][1000 genomes]
rs846763	0.83[ASN][1000 genomes]
rs846766	0.86[ASN][1000 genomes]
rs846768	0.86[ASN][1000 genomes]
rs846769	0.86[ASN][1000 genomes]
rs846770	0.86[ASN][1000 genomes]
rs860171	0.88[ASN][1000 genomes]
rs863668	0.89[ASN][1000 genomes]
rs9408995	0.81[ASN][1000 genomes]
rs942163	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9695692	0.86[ASN][1000 genomes]
rs9886877	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7874449	STX17	cis	Esophagus Mucosa	GTEx

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102699800-102765800	Weak transcription	Psoas Muscle	Psoas
2	chr9:102711400-102765800	Weak transcription	Right Ventricle	heart
3	chr9:102711400-102769200	Weak transcription	Osteobl	bone
4	chr9:102712200-102765600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr9:102713200-102765600	Weak transcription	HSMMtube	muscle
6	chr9:102718000-102777600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr9:102719000-102765400	Weak transcription	HepG2	liver
8	chr9:102729400-102764600	Weak transcription	HSMM	muscle
9	chr9:102729600-102765600	Weak transcription	NHEK	skin
10	chr9:102729600-102826800	Weak transcription	HMEC	breast
11	chr9:102730200-102765600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:102731000-102765600	Weak transcription	NHLF	lung
13	chr9:102731000-102778200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr9:102731800-102765600	Weak transcription	Small Intestine	intestine
15	chr9:102732600-102765600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr9:102733000-102765600	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:102733200-102765000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr9:102735800-102764600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr9:102740600-102765600	Weak transcription	A549	lung
20	chr9:102740800-102765400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:102740800-102765600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr9:102743400-102765600	Weak transcription	K562	blood
23	chr9:102744800-102765600	Weak transcription	NHDF-Ad	bronchial
24	chr9:102745200-102765600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:102745400-102765200	Weak transcription	Hela-S3	cervix
26	chr9:102746200-102765000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr9:102747000-102765400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr9:102747600-102765600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr9:102748000-102756400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr9:102748200-102758200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr9:102749400-102764600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr9:102749400-102765600	Weak transcription	Brain Hippocampus Middle	brain
33	chr9:102750000-102752200	Strong transcription	Primary B cells from cord blood	blood
34	chr9:102750200-102752400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:102750400-102752200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:102750800-102752200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:102750800-102752200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:102750800-102752200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr9:102750800-102752200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr9:102751000-102752200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:102751000-102752200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:102751000-102752200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:102751000-102752200	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr9:102751000-102752200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr9:102751000-102752200	ZNF genes & repeats	Fetal Brain Female	brain
46	chr9:102751000-102752200	ZNF genes & repeats	Fetal Intestine Large	intestine
47	chr9:102751000-102752200	ZNF genes & repeats	Fetal Lung	lung
48	chr9:102751000-102752200	ZNF genes & repeats	Fetal Stomach	stomach
49	chr9:102751000-102752200	ZNF genes & repeats	Thymus	Thymus
50	chr9:102751000-102752400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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