Variant report

Variant	rs17080617
Chromosome Location	chr6:119105417-119105418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119104519..119106736-chr6:119106969..119109771,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10485389	0.86[ASN][1000 genomes]
rs11963765	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12203353	0.81[ASN][1000 genomes]
rs12203542	0.81[ASN][1000 genomes]
rs12210027	0.81[ASN][1000 genomes]
rs12214434	0.81[ASN][1000 genomes]
rs12216519	0.81[ASN][1000 genomes]
rs17080604	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17080626	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2005303	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2185560	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs376225	0.81[ASN][1000 genomes]
rs56895036	0.83[ASN][1000 genomes]
rs62424023	0.82[ASN][1000 genomes]
rs62424024	0.82[ASN][1000 genomes]
rs6909006	0.85[ASN][1000 genomes]
rs6910327	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6910850	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72966811	0.87[ASN][1000 genomes]
rs7740511	0.85[ASN][1000 genomes]
rs7741194	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7742473	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7742814	0.84[ASN][1000 genomes]
rs7745728	0.83[ASN][1000 genomes]
rs7750777	0.83[ASN][1000 genomes]
rs7758986	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7765824	0.85[ASN][1000 genomes]
rs9320667	0.83[ASN][1000 genomes]
rs9374753	0.81[ASN][1000 genomes]
rs9401088	0.83[EUR][1000 genomes]
rs9481862	0.83[ASN][1000 genomes]
rs9489521	0.83[ASN][1000 genomes]
rs9489522	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9489523	0.91[ASN][1000 genomes]
rs9489526	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489527	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9489531	0.81[ASN][1000 genomes]
rs962393	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9784804	0.92[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv886568	chr6:119044453-119132164	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv886569	chr6:119055873-119132164	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119095200-119105800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:119098600-119105600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:119098800-119108800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:119099000-119105800	Weak transcription	Pancreas	Pancrea
5	chr6:119102400-119105800	Weak transcription	Placenta	Placenta
6	chr6:119103200-119105600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:119103200-119105600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr6:119103800-119106000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:119104000-119106600	Enhancers	Ovary	ovary
10	chr6:119104000-119107200	Enhancers	Fetal Lung	lung
11	chr6:119104200-119105600	Enhancers	Brain Substantia Nigra	brain
12	chr6:119104200-119105800	Enhancers	Brain Hippocampus Middle	brain
13	chr6:119104200-119105800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr6:119104200-119106400	Enhancers	Colon Smooth Muscle	Colon
15	chr6:119104200-119106400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:119104200-119106800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:119104200-119107000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:119104200-119107000	Enhancers	Brain Cingulate Gyrus	brain
19	chr6:119104200-119107000	Enhancers	Fetal Brain Male	brain
20	chr6:119104200-119107000	Enhancers	Fetal Muscle Leg	muscle
21	chr6:119104200-119107200	Enhancers	Fetal Stomach	stomach
22	chr6:119104600-119106800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:119104800-119105800	Enhancers	Brain Anterior Caudate	brain
24	chr6:119104800-119106200	Enhancers	NHLF	lung
25	chr6:119104800-119106400	Enhancers	Fetal Brain Female	brain
26	chr6:119104800-119106800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:119104800-119106800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:119104800-119106800	Enhancers	Fetal Kidney	kidney
29	chr6:119104800-119109000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:119105000-119106200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:119105000-119106200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:119105000-119106400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:119105000-119106400	Enhancers	HMEC	breast
34	chr6:119105000-119106800	Enhancers	HepG2	liver
35	chr6:119105200-119105600	Enhancers	Brain Angular Gyrus	brain
36	chr6:119105200-119106000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:119105200-119106200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:119105200-119106200	Enhancers	Fetal Heart	heart
39	chr6:119105200-119106400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:119105200-119106400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr6:119105200-119106400	Enhancers	Rectal Smooth Muscle	rectum
42	chr6:119105200-119106400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr6:119105200-119106800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:119105400-119105800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr6:119105400-119105800	Enhancers	HSMM	muscle
46	chr6:119105400-119106200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:119105400-119106200	Enhancers	Primary hematopoietic stem cells	blood
48	chr6:119105400-119106600	Enhancers	Stomach Smooth Muscle	stomach
49	chr6:119105400-119107800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:119105400-119110400	Weak transcription	HSMMtube	muscle

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