Variant report

Variant	rs17055300
Chromosome Location	chr6:128432269-128432270
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10046162	0.82[EUR][1000 genomes]
rs10485161	1.00[EUR][1000 genomes]
rs10485162	1.00[EUR][1000 genomes]
rs10499136	0.82[EUR][1000 genomes]
rs10499137	0.91[ASN][1000 genomes]
rs10499138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10872329	0.82[ASN][1000 genomes]
rs11962916	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11965115	0.82[ASN][1000 genomes]
rs11967302	0.82[ASN][1000 genomes]
rs11968433	1.00[EUR][1000 genomes]
rs11970637	1.00[EUR][1000 genomes]
rs12110728	0.82[ASN][1000 genomes]
rs17053270	1.00[EUR][1000 genomes]
rs17055270	0.83[ASN][1000 genomes]
rs17055274	0.83[ASN][1000 genomes]
rs17055283	0.91[ASN][1000 genomes]
rs17055285	0.91[ASN][1000 genomes]
rs17055290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17055360	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055365	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055391	0.82[ASN][1000 genomes]
rs17055403	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055412	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17055415	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055421	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055443	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17055445	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17055461	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17055488	1.00[EUR][1000 genomes]
rs17055499	1.00[EUR][1000 genomes]
rs17055501	1.00[EUR][1000 genomes]
rs17055507	1.00[EUR][1000 genomes]
rs1738273	1.00[EUR][1000 genomes]
rs1768358	1.00[EUR][1000 genomes]
rs1856497	1.00[EUR][1000 genomes]
rs28874136	0.82[EUR][1000 genomes]
rs3923033	0.82[ASN][1000 genomes]
rs4072328	0.82[ASN][1000 genomes]
rs4131020	1.00[EUR][1000 genomes]
rs41439546	0.91[ASN][1000 genomes]
rs4440487	0.82[ASN][1000 genomes]
rs4496822	0.82[EUR][1000 genomes]
rs4895830	0.82[ASN][1000 genomes]
rs4895832	1.00[EUR][1000 genomes]
rs4897244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897246	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897248	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55828045	1.00[EUR][1000 genomes]
rs56042959	1.00[EUR][1000 genomes]
rs56932458	1.00[EUR][1000 genomes]
rs57797601	1.00[EUR][1000 genomes]
rs58652879	1.00[EUR][1000 genomes]
rs58706847	1.00[EUR][1000 genomes]
rs59341107	0.90[EUR][1000 genomes]
rs59636446	0.91[ASN][1000 genomes]
rs60264538	1.00[EUR][1000 genomes]
rs60436012	1.00[EUR][1000 genomes]
rs61111040	1.00[EUR][1000 genomes]
rs61757810	0.87[AFR][1000 genomes]
rs6900798	1.00[EUR][1000 genomes]
rs6904354	0.82[ASN][1000 genomes]
rs6905735	1.00[EUR][1000 genomes]
rs6909380	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910587	1.00[EUR][1000 genomes]
rs6913738	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6918772	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929394	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933133	1.00[EUR][1000 genomes]
rs6935188	0.82[ASN][1000 genomes]
rs6938199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73584655	0.83[ASN][1000 genomes]
rs73584673	0.91[ASN][1000 genomes]
rs73586607	0.82[ASN][1000 genomes]
rs73586609	0.82[ASN][1000 genomes]
rs73586611	0.82[ASN][1000 genomes]
rs73586613	0.82[ASN][1000 genomes]
rs73588647	0.82[ASN][1000 genomes]
rs73588698	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73590666	1.00[EUR][1000 genomes]
rs73592613	1.00[EUR][1000 genomes]
rs73592686	1.00[EUR][1000 genomes]
rs73773990	0.82[EUR][1000 genomes]
rs7746423	0.83[AFR][1000 genomes]
rs7751187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7752113	0.82[EUR][1000 genomes]
rs7754321	0.82[ASN][1000 genomes]
rs7754637	1.00[EUR][1000 genomes]
rs7768121	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9491909	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv604643	chr6:128359362-128493991	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv604644	chr6:128394889-128486139	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv886650	chr6:128403745-128513395	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1031827	chr6:128418702-128497881	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2763955	chr6:128418714-128436415	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv604645	chr6:128421762-128437136	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv528869	chr6:128421762-128496557	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv604646	chr6:128421762-128531651	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv604647	chr6:128421762-128547177	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128375000-128433800	Weak transcription	Aorta	Aorta
2	chr6:128379000-128432800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:128401800-128433600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:128404000-128438000	Weak transcription	Fetal Thymus	thymus
5	chr6:128406600-128433000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:128411000-128433600	Weak transcription	HSMMtube	muscle
7	chr6:128411200-128433800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:128411200-128433800	Weak transcription	Fetal Stomach	stomach
9	chr6:128411200-128433800	Weak transcription	Ovary	ovary
10	chr6:128411600-128445600	Weak transcription	HepG2	liver
11	chr6:128419800-128434800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:128419800-128455600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:128424800-128432800	Weak transcription	Fetal Intestine Small	intestine
14	chr6:128425000-128452600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:128425200-128433600	Weak transcription	Right Atrium	heart
16	chr6:128425200-128435200	Weak transcription	Gastric	stomach
17	chr6:128428000-128452000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:128430800-128432400	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:128430800-128432600	Enhancers	Brain Angular Gyrus	brain
20	chr6:128431400-128433800	Enhancers	Brain Substantia Nigra	brain
21	chr6:128431800-128432800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:128431800-128433400	Enhancers	Liver	Liver
23	chr6:128431800-128433800	Enhancers	Fetal Heart	heart
24	chr6:128432000-128432400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:128432000-128433400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr6:128432000-128433600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:128432000-128433600	Enhancers	Colon Smooth Muscle	Colon
28	chr6:128432200-128432800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:128432200-128433400	Enhancers	Brain Anterior Caudate	brain
30	chr6:128432200-128433600	Weak transcription	Psoas Muscle	Psoas
31	chr6:128432200-128433600	Weak transcription	Right Ventricle	heart
32	chr6:128432200-128433800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:128432200-128433800	Weak transcription	Fetal Brain Male	brain
34	chr6:128432200-128448200	Weak transcription	Primary B cells from cord blood	blood

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