Variant report

Variant	rs6110247
Chromosome Location	chr20:14312185-14312186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11087084	0.87[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12329405	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs1570486	0.82[CHB][hapmap]
rs204629	0.86[JPT][hapmap]
rs204636	0.83[CEU][hapmap];0.86[JPT][hapmap]
rs204637	0.85[JPT][hapmap]
rs204645	0.83[CEU][hapmap]
rs2145560	1.00[CEU][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2208454	0.81[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2208456	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs2327846	0.86[CEU][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3789335	1.00[CEU][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6033952	0.85[JPT][hapmap]
rs6042672	0.88[CHB][hapmap]
rs6042695	0.83[CEU][hapmap];0.86[JPT][hapmap]
rs6105236	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs6105243	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs6105245	0.93[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6105246	0.88[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs6105247	0.87[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs6105250	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6110220	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs6110235	0.87[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6110241	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6110242	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6110251	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6110252	1.00[CEU][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6110255	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs6110259	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs6110263	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6110264	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6135108	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6135109	0.86[CEU][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6135124	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6135125	1.00[CEU][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6135127	0.81[CEU][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6135128	1.00[CEU][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs743216	1.00[CEU][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8126410	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14294800-14314000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr20:14303600-14323400	Weak transcription	Small Intestine	intestine
3	chr20:14304000-14313600	Weak transcription	Fetal Brain Male	brain
4	chr20:14304000-14315600	Weak transcription	HSMMtube	muscle
5	chr20:14304800-14314400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr20:14305200-14317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr20:14305400-14314400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr20:14305800-14317200	Weak transcription	Aorta	Aorta
9	chr20:14306000-14312800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:14306000-14314200	Weak transcription	HSMM	muscle
11	chr20:14306200-14313600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr20:14306800-14315800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr20:14307200-14315600	Weak transcription	Fetal Lung	lung
14	chr20:14307400-14314200	Weak transcription	A549	lung
15	chr20:14307400-14317200	Weak transcription	Lung	lung
16	chr20:14307800-14314000	Weak transcription	NHLF	lung
17	chr20:14307800-14314200	Weak transcription	Fetal Muscle Leg	muscle
18	chr20:14307800-14314200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr20:14307800-14315800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr20:14308000-14313600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr20:14308200-14312200	Weak transcription	Fetal Intestine Small	intestine
22	chr20:14308200-14312200	Weak transcription	Fetal Kidney	kidney
23	chr20:14308200-14312400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr20:14308200-14313400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr20:14308200-14313400	Weak transcription	Colon Smooth Muscle	Colon
26	chr20:14308200-14313600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr20:14308200-14313600	Weak transcription	Fetal Stomach	stomach
28	chr20:14308200-14313600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr20:14308200-14314400	Weak transcription	Brain Substantia Nigra	brain
30	chr20:14308200-14314400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr20:14308200-14317200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr20:14308200-14317200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr20:14308200-14317200	Weak transcription	Pancreas	Pancrea
34	chr20:14308400-14313000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr20:14309000-14312800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr20:14309600-14313400	Weak transcription	Liver	Liver
37	chr20:14309600-14317200	Weak transcription	Gastric	stomach
38	chr20:14309800-14312400	Weak transcription	Fetal Intestine Large	intestine
39	chr20:14309800-14313400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr20:14309800-14313600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr20:14309800-14313600	Weak transcription	Ovary	ovary
42	chr20:14310000-14313600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr20:14310000-14314400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr20:14310600-14312200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr20:14310600-14314200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr20:14310600-14314800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr20:14311200-14312200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr20:14311200-14312200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr20:14311200-14312200	Weak transcription	NHEK	skin
50	chr20:14311200-14312400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin

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