Variant report

Variant	rs6836627
Chromosome Location	chr4:78806713-78806714
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78801600..78804002-chr4:78805552..78808454,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10007837	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1010728	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10222901	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1039403	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10428319	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10856982	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10856991	0.81[AMR][1000 genomes]
rs11097900	0.86[AMR][1000 genomes]
rs11097965	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1156059	0.93[AMR][1000 genomes]
rs11721383	0.87[ASN][1000 genomes]
rs11723221	0.93[ASN][1000 genomes]
rs11729703	0.83[ASN][1000 genomes]
rs11730329	0.88[ASN][1000 genomes]
rs11730403	0.88[ASN][1000 genomes]
rs11731374	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11733759	0.87[ASN][1000 genomes]
rs11737353	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11737861	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11939576	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12108312	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12510593	0.84[AMR][1000 genomes]
rs12643960	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13105201	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13118459	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13128914	0.88[AMR][1000 genomes]
rs13131896	0.88[ASN][1000 genomes]
rs13137909	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13144226	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1402626	0.88[ASN][1000 genomes]
rs1521419	0.88[ASN][1000 genomes]
rs1554457	0.88[ASN][1000 genomes]
rs17002823	0.88[ASN][1000 genomes]
rs17002824	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17002825	0.88[ASN][1000 genomes]
rs17002828	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17002829	0.88[ASN][1000 genomes]
rs17002831	0.88[ASN][1000 genomes]
rs1980266	0.88[ASN][1000 genomes]
rs2030463	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2102116	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2134048	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2173869	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2174078	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2174080	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2866688	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2866690	0.88[AMR][1000 genomes]
rs28796999	1.00[ASN][1000 genomes]
rs28891692	1.00[ASN][1000 genomes]
rs3205281	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4078523	0.86[ASN][1000 genomes]
rs4304001	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4365752	0.88[ASN][1000 genomes]
rs4388114	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4410552	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4417999	0.83[ASN][1000 genomes]
rs4472161	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4541532	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4546268	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4561950	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4607246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4859872	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55673370	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55694923	0.88[ASN][1000 genomes]
rs55886549	0.88[ASN][1000 genomes]
rs56138517	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57246363	0.88[ASN][1000 genomes]
rs57501818	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57868780	0.98[ASN][1000 genomes]
rs57896992	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58218398	0.92[ASN][1000 genomes]
rs58358199	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60135456	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6533217	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6533226	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6533269	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6533271	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6533274	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6533290	0.88[ASN][1000 genomes]
rs6817305	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6817823	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6821826	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6822317	0.88[ASN][1000 genomes]
rs6823465	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6827822	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6828302	0.93[AMR][1000 genomes]
rs6829203	0.83[EUR][1000 genomes]
rs6830993	0.82[ASN][1000 genomes]
rs6832015	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6833179	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6838630	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839504	0.93[AMR][1000 genomes]
rs6849922	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6850111	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6854989	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72868269	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72869573	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73827437	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73827443	0.88[ASN][1000 genomes]
rs73827451	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7439347	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7656319	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7657658	0.88[ASN][1000 genomes]
rs7659122	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7661064	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663359	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7671941	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7673642	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7674744	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7675586	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7687170	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7687812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689226	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7692075	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9996218	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1824966	chr4:78747771-78823070	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1008217	chr4:78777531-78957311	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv537145	chr4:78777531-78957311	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6836627	CNOT6L	cis	brain	BrainEAC
rs6836627	CNOT6L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78784800-78808400	Weak transcription	Brain Substantia Nigra	brain
2	chr4:78784800-78842200	Weak transcription	HSMMtube	muscle
3	chr4:78784800-78859800	Weak transcription	Esophagus	oesophagus
4	chr4:78785000-78807000	Weak transcription	Brain Anterior Caudate	brain
5	chr4:78785000-78808400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:78785000-78808800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:78785000-78810600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:78785000-78831200	Weak transcription	Brain Angular Gyrus	brain
9	chr4:78785000-78831600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:78785000-78841800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:78785000-78874400	Weak transcription	Right Ventricle	heart
12	chr4:78785200-78808400	Weak transcription	Fetal Brain Male	brain
13	chr4:78785200-78816200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:78785200-78818800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:78785200-78820800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:78785400-78808200	Weak transcription	Fetal Kidney	kidney
17	chr4:78785400-78829800	Weak transcription	Fetal Heart	heart
18	chr4:78785600-78808200	Weak transcription	Hela-S3	cervix
19	chr4:78785600-78808400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:78790400-78808200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:78790400-78808400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:78790600-78843400	Weak transcription	Small Intestine	intestine
23	chr4:78790800-78817400	Weak transcription	NH-A	brain
24	chr4:78791400-78808000	Weak transcription	Ovary	ovary
25	chr4:78793600-78809400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:78794000-78851200	Weak transcription	Spleen	Spleen
27	chr4:78794200-78815600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:78794200-78851800	Weak transcription	Lung	lung
29	chr4:78795200-78807000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:78795200-78808200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:78795600-78814600	Weak transcription	HSMM	muscle
32	chr4:78795600-78831800	Weak transcription	NHLF	lung
33	chr4:78795600-78833000	Weak transcription	Brain Germinal Matrix	brain
34	chr4:78795800-78808200	Weak transcription	Fetal Brain Female	brain
35	chr4:78795800-78808600	Weak transcription	Fetal Lung	lung
36	chr4:78795800-78809200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:78796600-78808400	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:78797000-78808400	Weak transcription	Osteobl	bone
39	chr4:78799200-78832000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:78799400-78807400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:78799400-78807800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:78799400-78808400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:78799400-78808400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:78799400-78808600	Weak transcription	Thymus	Thymus
45	chr4:78799400-78810200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr4:78799600-78807000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr4:78800800-78809600	Strong transcription	Dnd41	blood
48	chr4:78802200-78808600	Weak transcription	Pancreas	Pancrea
49	chr4:78802200-78811000	Weak transcription	Psoas Muscle	Psoas
50	chr4:78802400-78814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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