Variant report

Variant	rs204604
Chromosome Location	chr20:14316909-14316910
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:14314454..14317198-chr20:14325361..14327046,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs204611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs204612	0.80[AFR][1000 genomes]
rs204613	0.90[AFR][1000 genomes]
rs204623	0.95[AFR][1000 genomes]
rs204624	0.95[AFR][1000 genomes]
rs6033945	0.80[AFR][1000 genomes]
rs6042674	0.80[AFR][1000 genomes]
rs6110245	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1057486	chr20:14077828-14469129	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1066235	chr20:14173771-14389050	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv458872	chr20:14189779-14317390	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv470540	chr20:14189779-14317390	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv585439	chr20:14189779-14317390	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1055499	chr20:14224873-14848061	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv432101	chr20:14294196-14353346	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1799128	chr20:14309952-14324140	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14303600-14323400	Weak transcription	Small Intestine	intestine
2	chr20:14305200-14317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr20:14305800-14317200	Weak transcription	Aorta	Aorta
4	chr20:14307400-14317200	Weak transcription	Lung	lung
5	chr20:14308200-14317200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:14308200-14317200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr20:14308200-14317200	Weak transcription	Pancreas	Pancrea
8	chr20:14309600-14317200	Weak transcription	Gastric	stomach
9	chr20:14311800-14317400	Active TSS	Brain Germinal Matrix	brain
10	chr20:14311800-14318600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr20:14312200-14318400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:14312600-14317200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:14312800-14318400	Active TSS	HMEC	breast
14	chr20:14313200-14318400	Active TSS	Fetal Intestine Large	intestine
15	chr20:14313400-14318400	Active TSS	Fetal Intestine Small	intestine
16	chr20:14313400-14318600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr20:14313600-14318400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr20:14313600-14318400	Active TSS	Brain Anterior Caudate	brain
19	chr20:14313600-14318400	Active TSS	Brain Hippocampus Middle	brain
20	chr20:14313600-14318400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr20:14313600-14318400	Active TSS	Colon Smooth Muscle	Colon
22	chr20:14313600-14318400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr20:14313600-14318400	Active TSS	Fetal Stomach	stomach
24	chr20:14313600-14318600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr20:14313600-14318600	Active TSS	Brain Angular Gyrus	brain
26	chr20:14313600-14318600	Active TSS	Stomach Smooth Muscle	stomach
27	chr20:14313800-14318400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr20:14313800-14318400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr20:14313800-14318600	Active TSS	Fetal Kidney	kidney
30	chr20:14313800-14318800	Active TSS	Ovary	ovary
31	chr20:14314000-14317800	Active TSS	Rectal Smooth Muscle	rectum
32	chr20:14314000-14318400	Active TSS	NHLF	lung
33	chr20:14314200-14318400	Active TSS	Fetal Muscle Leg	muscle
34	chr20:14314400-14318400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr20:14314400-14318400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr20:14314400-14318400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr20:14314400-14318400	Active TSS	Duodenum Mucosa	Duodenum
38	chr20:14314400-14318400	Active TSS	Fetal Heart	heart
39	chr20:14314400-14318600	Active TSS	Brain Cingulate Gyrus	brain
40	chr20:14314600-14318400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr20:14314800-14317200	Weak transcription	HSMM	muscle
42	chr20:14314800-14318400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr20:14314800-14318600	Active TSS	A549	lung
44	chr20:14315000-14318400	Active TSS	NHEK	skin
45	chr20:14315200-14317200	Weak transcription	Brain Substantia Nigra	brain
46	chr20:14315200-14318400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr20:14315600-14317000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr20:14315600-14318600	Active TSS	NHDF-Ad	bronchial
49	chr20:14315800-14317000	Active TSS	Fetal Brain Female	brain
50	chr20:14315800-14317200	Active TSS	HUES64 Cell Line	embryonic stem cell

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