Variant report

Variant	rs60421278
Chromosome Location	chr18:6783177-6783178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10502351	0.81[EUR][1000 genomes]
rs11874335	0.87[EUR][1000 genomes]
rs11874401	0.84[EUR][1000 genomes]
rs11875225	0.92[EUR][1000 genomes]
rs11877518	0.89[EUR][1000 genomes]
rs1431382	0.85[EUR][1000 genomes]
rs16950634	0.81[EUR][1000 genomes]
rs1897288	0.86[EUR][1000 genomes]
rs2376528	0.92[EUR][1000 genomes]
rs28366990	0.82[EUR][1000 genomes]
rs34471873	0.80[EUR][1000 genomes]
rs4505417	0.81[EUR][1000 genomes]
rs4638664	0.81[EUR][1000 genomes]
rs56077505	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56179157	0.81[EUR][1000 genomes]
rs56697203	0.82[EUR][1000 genomes]
rs60041312	0.81[EUR][1000 genomes]
rs62082792	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62082793	0.84[EUR][1000 genomes]
rs62082805	0.81[EUR][1000 genomes]
rs7233825	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7234441	0.82[EUR][1000 genomes]
rs8084061	0.81[EUR][1000 genomes]
rs9303989	0.86[EUR][1000 genomes]
rs9303990	0.86[EUR][1000 genomes]
rs9807437	0.82[EUR][1000 genomes]
rs9951396	0.84[EUR][1000 genomes]
rs9959053	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059678	chr18:6155114-6838290	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv916883	chr18:6299209-7244642	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1055148	chr18:6527292-6790869	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv543629	chr18:6527292-6790869	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3529901	chr18:6537233-6851509	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3529902	chr18:6537233-6851509	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1063762	chr18:6542534-7382339	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv543630	chr18:6542534-7382339	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription 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	39 gene(s)	inside rSNPs	diseases
9	nsv1060757	chr18:6682974-7051982	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv543631	chr18:6682974-7051982	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv1064175	chr18:6740267-7384528	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	esv34611	chr18:6741970-6838290	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv576397	chr18:6758921-7036683	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	esv2758469	chr18:6762909-6943645	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	esv2758711	chr18:6762909-6943645	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6778200-6785600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr18:6779600-6785800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:6780200-6783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:6781000-6783200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr18:6781000-6786600	Enhancers	Placenta	Placenta
6	chr18:6781200-6784000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:6781200-6784600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:6781600-6783200	Enhancers	NHEK	skin
9	chr18:6781600-6783800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr18:6781600-6784000	Weak transcription	Spleen	Spleen
11	chr18:6781800-6783600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:6781800-6786200	Enhancers	HSMM	muscle
13	chr18:6781800-6786400	Weak transcription	Lung	lung
14	chr18:6782000-6783600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:6782200-6783400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr18:6782200-6783600	Weak transcription	Left Ventricle	heart
17	chr18:6782200-6783800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr18:6782200-6783800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr18:6782200-6783800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr18:6782200-6784000	Weak transcription	Colon Smooth Muscle	Colon
21	chr18:6782200-6785400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:6782200-6785400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr18:6782200-6788000	Weak transcription	Fetal Intestine Small	intestine
24	chr18:6782200-6789000	Weak transcription	Pancreas	Pancrea
25	chr18:6782200-6790400	Weak transcription	Adipose Nuclei	Adipose
26	chr18:6782200-6793800	Weak transcription	Fetal Kidney	kidney
27	chr18:6782400-6783600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:6782400-6783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr18:6782400-6784000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:6782400-6784000	Weak transcription	Fetal Stomach	stomach
31	chr18:6782400-6784200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr18:6782400-6784200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:6782400-6784200	Weak transcription	HSMMtube	muscle
34	chr18:6782400-6784400	Weak transcription	Fetal Heart	heart
35	chr18:6782400-6785200	Weak transcription	NH-A	brain
36	chr18:6782400-6785400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr18:6782400-6785400	Weak transcription	Osteobl	bone
38	chr18:6782600-6783800	Weak transcription	Fetal Muscle Leg	muscle
39	chr18:6782800-6783600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr18:6783000-6783200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr18:6783000-6783200	Enhancers	Psoas Muscle	Psoas
42	chr18:6783000-6784000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr18:6783000-6784000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr18:6783000-6784200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr18:6783000-6784200	Strong transcription	Fetal Lung	lung
46	chr18:6783000-6785800	Enhancers	Ovary	ovary

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