Variant report

Variant	rs2356497
Chromosome Location	chr6:118876539-118876540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10456917	0.85[ASN][1000 genomes]
rs10457330	0.83[ASN][1000 genomes]
rs10457331	0.83[ASN][1000 genomes]
rs10457335	0.85[ASN][1000 genomes]
rs10457337	0.86[ASN][1000 genomes]
rs10457338	0.85[ASN][1000 genomes]
rs10457342	0.82[ASN][1000 genomes]
rs10872167	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11153732	0.81[ASN][1000 genomes]
rs11153734	0.83[ASN][1000 genomes]
rs11153748	0.85[ASN][1000 genomes]
rs11153752	0.89[ASN][1000 genomes]
rs11153753	0.89[ASN][1000 genomes]
rs11153759	0.90[ASN][1000 genomes]
rs11153763	0.83[ASN][1000 genomes]
rs11153767	0.82[ASN][1000 genomes]
rs11153768	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11752626	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11752928	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11753128	0.90[ASN][1000 genomes]
rs11755121	0.90[ASN][1000 genomes]
rs11758454	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11965985	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11967375	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11967858	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11968176	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11968351	0.90[ASN][1000 genomes]
rs12192682	0.94[ASN][1000 genomes]
rs12192964	0.83[ASN][1000 genomes]
rs12194555	0.88[ASN][1000 genomes]
rs12197337	0.93[ASN][1000 genomes]
rs12198461	0.92[ASN][1000 genomes]
rs12199463	0.90[ASN][1000 genomes]
rs12203006	0.90[ASN][1000 genomes]
rs12206329	0.94[ASN][1000 genomes]
rs12207209	0.90[ASN][1000 genomes]
rs12208253	0.85[ASN][1000 genomes]
rs12211576	0.94[ASN][1000 genomes]
rs12214483	0.85[ASN][1000 genomes]
rs12215793	0.81[ASN][1000 genomes]
rs12660455	0.83[ASN][1000 genomes]
rs12661338	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13191610	0.83[ASN][1000 genomes]
rs13192336	0.94[ASN][1000 genomes]
rs13192574	0.94[ASN][1000 genomes]
rs13217710	0.88[ASN][1000 genomes]
rs13219555	0.89[ASN][1000 genomes]
rs13220480	0.90[ASN][1000 genomes]
rs17226667	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17227124	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17427116	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17825393	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17825652	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2078383	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2184402	0.85[ASN][1000 genomes]
rs2213856	0.88[ASN][1000 genomes]
rs2213857	0.87[ASN][1000 genomes]
rs2356183	0.85[ASN][1000 genomes]
rs2356492	0.87[ASN][1000 genomes]
rs2356498	0.90[ASN][1000 genomes]
rs2883956	0.83[ASN][1000 genomes]
rs34479834	0.90[ASN][1000 genomes]
rs35029749	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35730412	0.83[ASN][1000 genomes]
rs35962656	0.90[ASN][1000 genomes]
rs3752581	0.94[ASN][1000 genomes]
rs3798420	0.85[ASN][1000 genomes]
rs3890198	0.83[ASN][1000 genomes]
rs3951042	0.83[ASN][1000 genomes]
rs3951043	0.83[ASN][1000 genomes]
rs4027880	0.83[ASN][1000 genomes]
rs4307206	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4945623	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4946347	0.91[ASN][1000 genomes]
rs4946350	0.83[ASN][1000 genomes]
rs55892056	0.84[AMR][1000 genomes]
rs57813349	0.83[ASN][1000 genomes]
rs59671368	0.90[ASN][1000 genomes]
rs6569020	0.87[ASN][1000 genomes]
rs6569024	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67832971	0.90[ASN][1000 genomes]
rs6902812	0.85[ASN][1000 genomes]
rs6906287	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6925641	0.90[ASN][1000 genomes]
rs6936178	0.83[ASN][1000 genomes]
rs6938041	0.90[ASN][1000 genomes]
rs6938226	0.90[ASN][1000 genomes]
rs72952771	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72952795	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72958930	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs763254	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7740645	0.85[ASN][1000 genomes]
rs7746778	0.82[ASN][1000 genomes]
rs7751467	0.90[ASN][1000 genomes]
rs7757892	0.89[ASN][1000 genomes]
rs7758614	0.90[ASN][1000 genomes]
rs7763596	0.90[ASN][1000 genomes]
rs7766375	0.88[ASN][1000 genomes]
rs7769001	0.85[ASN][1000 genomes]
rs7772214	0.86[ASN][1000 genomes]
rs7772921	0.82[ASN][1000 genomes]
rs7773274	0.85[ASN][1000 genomes]
rs973944	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
9	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv1020586	chr6:118711098-118900012	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
16	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
17	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
18	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
19	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
20	nsv1030331	chr6:118874345-118975680	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118845200-118880000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr6:118846200-118878600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:118847800-118895400	Weak transcription	Pancreas	Pancrea
4	chr6:118852600-118895200	Weak transcription	Primary B cells from cord blood	blood
5	chr6:118859400-118880200	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:118864400-118895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:118867000-118878800	Active TSS	Right Atrium	heart
8	chr6:118867800-118877200	Active TSS	Stomach Smooth Muscle	stomach
9	chr6:118868600-118894000	Weak transcription	Fetal Stomach	stomach
10	chr6:118869400-118880400	Active TSS	Right Ventricle	heart
11	chr6:118872200-118886600	Weak transcription	Fetal Kidney	kidney
12	chr6:118872200-118895200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:118872400-118878600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr6:118872400-118884000	Weak transcription	Brain Angular Gyrus	brain
15	chr6:118872400-118886200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:118872400-118886600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:118872600-118877400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:118872800-118878600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr6:118872800-118879000	ZNF genes & repeats	Fetal Heart	heart
20	chr6:118872800-118895200	Weak transcription	HMEC	breast
21	chr6:118873000-118886400	Weak transcription	Adipose Nuclei	Adipose
22	chr6:118873200-118876600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:118873200-118886400	Weak transcription	Fetal Lung	lung
24	chr6:118873600-118880400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:118873800-118878000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:118873800-118880000	Weak transcription	NH-A	brain
27	chr6:118873800-118895600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:118874000-118879000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:118874200-118880000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:118874400-118876800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:118874600-118877200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:118874600-118877400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:118874600-118878400	Weak transcription	Primary T cells from cord blood	blood
34	chr6:118874600-118878400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr6:118874600-118879000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr6:118874600-118880000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:118874600-118880200	Weak transcription	NHLF	lung
38	chr6:118874600-118886600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr6:118874600-118886600	Weak transcription	HSMMtube	muscle
40	chr6:118874600-118895200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:118874600-118895200	Weak transcription	K562	blood
42	chr6:118874800-118878400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:118874800-118878400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr6:118874800-118878600	Weak transcription	Osteobl	bone
45	chr6:118875000-118878400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:118875000-118880000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:118875000-118889200	Weak transcription	Placenta	Placenta
48	chr6:118875200-118877000	Enhancers	Psoas Muscle	Psoas
49	chr6:118875200-118878200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:118875200-118878400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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