Variant report

Variant	rs62198266
Chromosome Location	chr20:29615320-29615321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10871821	0.80[EUR][1000 genomes]
rs4892328	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6057373	0.83[EUR][1000 genomes]
rs6057378	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758518	chr20:29419570-29653908	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2758791	chr20:29419570-29653908	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv428028	chr20:29419570-29653908	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv428376	chr20:29419570-29653908	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1062766	chr20:29420340-29635454	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv833950	chr20:29472154-29638425	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription 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
7	nsv1058387	chr20:29479828-29651199	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv2756736	chr20:29493193-29630695	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1067193	chr20:29525410-29651199	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv11674	chr20:29528011-29653880	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv965870	chr20:29570138-29652376	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3359503	chr20:29579591-29639989	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv3336027	chr20:29579691-29639889	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv3337149	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv3343795	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv3380005	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	esv3441285	chr20:29579691-29639889	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	esv15335	chr20:29580700-29653880	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv585870	chr20:29603773-29648195	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv585871	chr20:29612406-29648195	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv585872	chr20:29612406-29648263	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62198266	RP4-610C12.4	cis	lung	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29612600-29616200	Weak transcription	Gastric	stomach
2	chr20:29612600-29616800	Weak transcription	Fetal Intestine Large	intestine
3	chr20:29612600-29618600	Weak transcription	Pancreas	Pancrea
4	chr20:29612600-29622400	Weak transcription	Aorta	Aorta
5	chr20:29613000-29615800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr20:29613000-29615800	Weak transcription	Placenta	Placenta
7	chr20:29613000-29616200	Weak transcription	Brain Hippocampus Middle	brain
8	chr20:29613000-29616200	Weak transcription	HSMMtube	muscle
9	chr20:29613000-29617200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr20:29613000-29617200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr20:29613200-29634400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr20:29613600-29616000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr20:29613600-29616000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr20:29613600-29616000	Weak transcription	Adipose Nuclei	Adipose
15	chr20:29613600-29616000	Weak transcription	A549	lung
16	chr20:29613600-29616200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr20:29613600-29616200	Weak transcription	Brain Substantia Nigra	brain
18	chr20:29613600-29616200	Weak transcription	Fetal Brain Male	brain
19	chr20:29613600-29616200	Weak transcription	Small Intestine	intestine
20	chr20:29613600-29616200	Weak transcription	Stomach Mucosa	stomach
21	chr20:29613600-29618800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr20:29613600-29619800	Weak transcription	Brain Angular Gyrus	brain
23	chr20:29613600-29622400	Weak transcription	Left Ventricle	heart
24	chr20:29613600-29622400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr20:29613600-29630600	Weak transcription	Colon Smooth Muscle	Colon
26	chr20:29613600-29634200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr20:29613600-29634400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr20:29613600-29634600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr20:29613800-29615600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr20:29613800-29615600	Weak transcription	Dnd41	blood
31	chr20:29613800-29616000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr20:29613800-29616000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr20:29613800-29616000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr20:29613800-29616000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr20:29613800-29618800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr20:29613800-29620800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr20:29614000-29615800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr20:29614000-29616200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr20:29614000-29616200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr20:29614200-29616200	Weak transcription	Psoas Muscle	Psoas
41	chr20:29614800-29615800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr20:29614800-29616000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr20:29614800-29616000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr20:29614800-29616000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr20:29614800-29616000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr20:29614800-29616200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr20:29614800-29616200	Weak transcription	K562	blood
48	chr20:29615200-29615400	Enhancers	Spleen	Spleen

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