Variant report

Variant	rs6817823
Chromosome Location	chr4:78724193-78724194
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78721732..78724295-chr4:78733166..78737485,4	K562	blood:
2	chr4:78718708..78721606-chr4:78722272..78724950,3	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10005741	0.95[ASN][1000 genomes]
rs10007837	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1010728	0.88[AMR][1000 genomes]
rs10222901	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039403	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10428319	0.84[AMR][1000 genomes]
rs10856982	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10856991	0.84[AMR][1000 genomes]
rs11097900	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11097935	1.00[ASN][1000 genomes]
rs11097965	0.91[AMR][1000 genomes]
rs1156059	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11727993	1.00[ASN][1000 genomes]
rs11730329	0.86[ASN][1000 genomes]
rs11730403	0.86[ASN][1000 genomes]
rs11731374	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11733759	0.85[ASN][1000 genomes]
rs11737353	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11939576	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12108312	0.88[AMR][1000 genomes]
rs12510593	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12643960	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13105201	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13111592	0.95[ASN][1000 genomes]
rs13118459	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13128914	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13131896	0.86[ASN][1000 genomes]
rs13137909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138341	0.84[ASN][1000 genomes]
rs13144225	1.00[ASN][1000 genomes]
rs13144226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1402626	0.86[ASN][1000 genomes]
rs1501373	0.98[ASN][1000 genomes]
rs1502879	0.81[AMR][1000 genomes]
rs1521419	0.86[ASN][1000 genomes]
rs1554457	0.86[ASN][1000 genomes]
rs17002823	0.86[ASN][1000 genomes]
rs17002824	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17002825	0.86[ASN][1000 genomes]
rs17002828	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17002829	0.86[ASN][1000 genomes]
rs17002831	0.86[ASN][1000 genomes]
rs1813725	0.98[ASN][1000 genomes]
rs1814033	0.89[ASN][1000 genomes]
rs1980266	0.86[ASN][1000 genomes]
rs2008222	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2030463	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2102116	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2134048	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2173869	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2174078	0.88[AMR][1000 genomes]
rs2174080	0.88[AMR][1000 genomes]
rs2866444	0.89[ASN][1000 genomes]
rs2866688	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2866689	0.85[ASN][1000 genomes]
rs2866690	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2903291	1.00[ASN][1000 genomes]
rs3205281	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4078523	0.84[ASN][1000 genomes]
rs4304001	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4365752	0.86[ASN][1000 genomes]
rs4388114	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4410552	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4472161	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4541532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4546268	0.84[AMR][1000 genomes]
rs4561950	0.84[AMR][1000 genomes]
rs4607246	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4859506	0.88[ASN][1000 genomes]
rs4859871	0.84[ASN][1000 genomes]
rs4859872	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4859876	0.95[ASN][1000 genomes]
rs4859878	1.00[ASN][1000 genomes]
rs55673370	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55694923	0.86[ASN][1000 genomes]
rs55886549	0.86[ASN][1000 genomes]
rs56138517	0.84[AMR][1000 genomes]
rs57246363	0.86[ASN][1000 genomes]
rs57357866	0.82[ASN][1000 genomes]
rs57501818	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57896992	0.88[AMR][1000 genomes]
rs58218398	0.81[ASN][1000 genomes]
rs58358199	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60135456	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6533217	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6533226	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6533239	0.93[ASN][1000 genomes]
rs6533269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533270	1.00[ASN][1000 genomes]
rs6533271	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533272	1.00[ASN][1000 genomes]
rs6533274	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6533290	0.86[ASN][1000 genomes]
rs6814830	0.91[ASN][1000 genomes]
rs6817305	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6821826	0.88[AMR][1000 genomes]
rs6822317	0.86[ASN][1000 genomes]
rs6823465	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6827822	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6828302	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6829203	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6832015	0.84[AMR][1000 genomes]
rs6833179	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6836627	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6838630	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6839504	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6849922	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6850049	1.00[ASN][1000 genomes]
rs6850111	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6854989	0.84[AMR][1000 genomes]
rs6855336	0.93[ASN][1000 genomes]
rs6857067	1.00[ASN][1000 genomes]
rs72868269	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72869573	0.86[AMR][1000 genomes]
rs73827437	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73827443	0.86[ASN][1000 genomes]
rs73827451	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7439347	0.84[AMR][1000 genomes]
rs7655949	0.95[ASN][1000 genomes]
rs7656319	0.88[AMR][1000 genomes]
rs7657658	0.86[ASN][1000 genomes]
rs7659122	0.84[AMR][1000 genomes]
rs7661064	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7663359	0.84[AMR][1000 genomes]
rs7669988	0.95[ASN][1000 genomes]
rs7671941	0.84[AMR][1000 genomes]
rs7673642	0.88[AMR][1000 genomes]
rs7674744	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7675586	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7686883	0.86[ASN][1000 genomes]
rs7687170	0.84[AMR][1000 genomes]
rs7687812	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7689226	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7692075	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7693256	0.86[ASN][1000 genomes]
rs885376	0.83[ASN][1000 genomes]
rs9993942	0.88[ASN][1000 genomes]
rs9996218	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[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	nsv829976	chr4:78576657-78757798	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6817823	CNOT6L	cis	Esophagus Muscularis	GTEx
rs6817823	CNOT6L	Cis_1M	lymphoblastoid	RTeQTL
rs6817823	CNOT6L	cis	Artery Tibial	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78716400-78733400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:78718200-78728200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:78718800-78738600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:78720600-78732000	Weak transcription	Aorta	Aorta
5	chr4:78720800-78735600	Weak transcription	HepG2	liver
6	chr4:78721000-78732400	Weak transcription	Fetal Intestine Small	intestine
7	chr4:78721800-78724400	Enhancers	Liver	Liver
8	chr4:78722200-78724200	Enhancers	Adipose Nuclei	Adipose
9	chr4:78722200-78724200	Enhancers	Duodenum Mucosa	Duodenum
10	chr4:78722200-78738600	Weak transcription	HSMM	muscle
11	chr4:78722400-78727000	Weak transcription	Stomach Mucosa	stomach
12	chr4:78722400-78727800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:78722400-78734800	Weak transcription	Fetal Intestine Large	intestine
14	chr4:78722600-78724200	Enhancers	Primary B cells from cord blood	blood
15	chr4:78722600-78724200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:78722600-78724800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:78722600-78725000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:78722600-78725000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr4:78722600-78725400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr4:78722600-78725600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr4:78722600-78725600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:78722600-78725600	Weak transcription	Osteobl	bone
23	chr4:78722600-78728600	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:78722600-78729000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr4:78722600-78732000	Weak transcription	Thymus	Thymus
26	chr4:78722600-78735800	Weak transcription	A549	lung
27	chr4:78722600-78737800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:78722600-78737800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:78722600-78738600	Weak transcription	NHEK	skin
30	chr4:78722600-78739000	Weak transcription	Ovary	ovary
31	chr4:78722600-78739200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:78722800-78724200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:78722800-78724400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr4:78722800-78732000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr4:78722800-78736800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:78722800-78738600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:78723000-78724800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr4:78723000-78732000	Weak transcription	Right Atrium	heart
39	chr4:78723000-78732400	Weak transcription	Fetal Thymus	thymus
40	chr4:78723000-78732600	Enhancers	Primary T cells from cord blood	blood
41	chr4:78723000-78734800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:78723000-78738600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:78723200-78724600	Weak transcription	Small Intestine	intestine
44	chr4:78723200-78724800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:78723200-78724800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:78723200-78724800	Enhancers	Brain Substantia Nigra	brain
47	chr4:78723200-78725400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:78723200-78726600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr4:78723200-78726800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:78723200-78726800	Weak transcription	Primary B cells from peripheral blood	blood

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