Variant report

Variant	rs7749736
Chromosome Location	chr6:28346031-28346032
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28336184..28339998-chr6:28343727..28348047,5	K562	blood:
2	chr6:28340056..28341598-chr6:28344823..28347301,2	K562	blood:
3	chr6:28336184..28339617-chr6:28343727..28347086,4	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1005127	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1054372	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1124131	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11751693	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11752496	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11752919	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11754208	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755942	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760133	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12697938	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201726	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13207208	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13210866	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13215476	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1339898	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13437294	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361385	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416918	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558205	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1591913	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16894021	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16894060	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16894095	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16894108	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2027361	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2041230	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071965	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs213228	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2531804	0.85[ASN][1000 genomes]
rs28360638	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34513104	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34924864	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35191424	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35560946	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35599905	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36018474	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3734563	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800328	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4254981	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4357130	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4580862	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4642462	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66542396	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs67211468	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6899389	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6899603	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6903535	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6907950	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6908137	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6917130	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6922169	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6922374	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6922429	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6927229	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6928773	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6929825	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6939966	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs740621	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs740622	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7451726	0.84[ASN][1000 genomes]
rs7740351	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7759191	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764722	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764737	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773051	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775132	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461455	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9461456	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461458	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461459	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468354	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468355	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468357	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468360	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9468361	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468365	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468366	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9468367	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468368	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468370	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7749736	ZSCAN31	cis	Thyroid	GTEx
rs7749736	ZSCAN31	cis	lung	GTEx
rs7749736	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs7749736	RP5-874C20.3	cis	Thyroid	GTEx
rs7749736	RP5-874C20.3	cis	Esophagus Muscularis	GTEx
rs7749736	AL022393.7	cis	Heart Left Ventricle	GTEx
rs7749736	ZSCAN12	Cis_1M	lymphoblastoid	RTeQTL
rs7749736	AL022393.7	cis	Muscle Skeletal	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28318400-28350800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:28324400-28347600	Weak transcription	NHDF-Ad	bronchial
3	chr6:28324400-28347800	Weak transcription	Fetal Brain Male	brain
4	chr6:28324400-28348200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:28324400-28357200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:28324400-28357600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:28324600-28349400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:28324600-28349600	Weak transcription	NHEK	skin
9	chr6:28324600-28358600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:28325400-28350800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:28332000-28350600	Weak transcription	Psoas Muscle	Psoas
12	chr6:28333800-28347800	Weak transcription	HUVEC	blood vessel
13	chr6:28333800-28348000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:28333800-28349800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:28333800-28349800	Weak transcription	Pancreas	Pancrea
16	chr6:28333800-28350800	Weak transcription	Lung	lung
17	chr6:28333800-28351000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:28334000-28346600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:28334000-28346800	Weak transcription	Fetal Kidney	kidney
20	chr6:28334000-28348000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:28334000-28350000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:28334000-28350600	Weak transcription	Colonic Mucosa	Colon
23	chr6:28334000-28350800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:28334200-28346200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:28334200-28347800	Weak transcription	NHLF	lung
26	chr6:28334200-28348000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:28334200-28348000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:28334200-28348200	Weak transcription	Brain Substantia Nigra	brain
29	chr6:28334200-28348800	Weak transcription	Fetal Heart	heart
30	chr6:28334200-28349400	Weak transcription	Right Ventricle	heart
31	chr6:28334200-28349800	Weak transcription	Aorta	Aorta
32	chr6:28334200-28351000	Weak transcription	Gastric	stomach
33	chr6:28334200-28351200	Weak transcription	Spleen	Spleen
34	chr6:28334400-28347200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr6:28334400-28347400	Weak transcription	HSMM	muscle
36	chr6:28334400-28347600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:28334400-28347800	Weak transcription	Brain Angular Gyrus	brain
38	chr6:28334400-28347800	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:28334400-28348000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr6:28334400-28348000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr6:28334400-28348000	Weak transcription	Thymus	Thymus
42	chr6:28334400-28348000	Weak transcription	HSMMtube	muscle
43	chr6:28334400-28350600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:28334400-28351000	Weak transcription	Esophagus	oesophagus
45	chr6:28334600-28347200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:28334600-28347600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:28334600-28347600	Weak transcription	Osteobl	bone
48	chr6:28334600-28347800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:28334600-28347800	Weak transcription	A549	lung
50	chr6:28334600-28351000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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