Variant report

Variant	rs16994493
Chromosome Location	chr20:14315372-14315373
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	chr20:14314454..14317198-chr20:14325361..14327046,2	K562	blood:
2	chr17:41399300..41401884-chr20:14313065..14316065,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1114952	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1114953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1555411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16994428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16994463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16994496	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs16994499	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs16994501	1.00[CHB][hapmap]
rs1998487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2181530	0.87[ASN][1000 genomes]
rs2208457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327820	1.00[ASN][1000 genomes]
rs2876375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35253731	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4813154	0.87[ASN][1000 genomes]
rs4814292	1.00[ASN][1000 genomes]
rs55763358	1.00[ASN][1000 genomes]
rs55985306	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033905	1.00[ASN][1000 genomes]
rs6033907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6033916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033917	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033946	1.00[CHB][hapmap]
rs6042596	0.87[ASN][1000 genomes]
rs6042601	1.00[ASN][1000 genomes]
rs6042606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042614	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042616	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6042677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6042678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042679	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs6074706	1.00[ASN][1000 genomes]
rs6074707	1.00[ASN][1000 genomes]
rs6079359	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs6079360	1.00[ASN][1000 genomes]
rs6079371	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73901234	0.82[ASN][1000 genomes]
rs8120919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912190	1.00[ASN][1000 genomes]
rs9967919	1.00[CHB][hapmap];0.82[ASN][1000 genomes]

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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14303600-14323400	Weak transcription	Small Intestine	intestine
2	chr20:14304000-14315600	Weak transcription	HSMMtube	muscle
3	chr20:14305200-14317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr20:14305800-14317200	Weak transcription	Aorta	Aorta
5	chr20:14306800-14315800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr20:14307200-14315600	Weak transcription	Fetal Lung	lung
7	chr20:14307400-14317200	Weak transcription	Lung	lung
8	chr20:14307800-14315800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr20:14308200-14317200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:14308200-14317200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr20:14308200-14317200	Weak transcription	Pancreas	Pancrea
12	chr20:14309600-14317200	Weak transcription	Gastric	stomach
13	chr20:14311800-14317400	Active TSS	Brain Germinal Matrix	brain
14	chr20:14311800-14318600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr20:14312200-14318400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr20:14312600-14317200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr20:14312800-14318400	Active TSS	HMEC	breast
18	chr20:14313200-14318400	Active TSS	Fetal Intestine Large	intestine
19	chr20:14313400-14315400	Active TSS	Fetal Brain Female	brain
20	chr20:14313400-14316000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr20:14313400-14316200	Enhancers	Liver	Liver
22	chr20:14313400-14318400	Active TSS	Fetal Intestine Small	intestine
23	chr20:14313400-14318600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:14313600-14318400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr20:14313600-14318400	Active TSS	Brain Anterior Caudate	brain
26	chr20:14313600-14318400	Active TSS	Brain Hippocampus Middle	brain
27	chr20:14313600-14318400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr20:14313600-14318400	Active TSS	Colon Smooth Muscle	Colon
29	chr20:14313600-14318400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr20:14313600-14318400	Active TSS	Fetal Stomach	stomach
31	chr20:14313600-14318600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr20:14313600-14318600	Active TSS	Brain Angular Gyrus	brain
33	chr20:14313600-14318600	Active TSS	Stomach Smooth Muscle	stomach
34	chr20:14313800-14318400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr20:14313800-14318400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr20:14313800-14318600	Active TSS	Fetal Kidney	kidney
37	chr20:14313800-14318800	Active TSS	Ovary	ovary
38	chr20:14314000-14315800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr20:14314000-14317800	Active TSS	Rectal Smooth Muscle	rectum
40	chr20:14314000-14318400	Active TSS	NHLF	lung
41	chr20:14314200-14318400	Active TSS	Fetal Muscle Leg	muscle
42	chr20:14314400-14315800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr20:14314400-14318400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr20:14314400-14318400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr20:14314400-14318400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr20:14314400-14318400	Active TSS	Duodenum Mucosa	Duodenum
47	chr20:14314400-14318400	Active TSS	Fetal Heart	heart
48	chr20:14314400-14318600	Active TSS	Brain Cingulate Gyrus	brain
49	chr20:14314600-14315600	Enhancers	Fetal Brain Male	brain
50	chr20:14314600-14315600	Weak transcription	Placenta Amnion	Placenta Amnion

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