Variant report

Variant	rs8120693
Chromosome Location	chr20:14307024-14307025
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	chr20:14305353..14307056-chr20:14308528..14310326,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11696983	1.00[JPT][hapmap]
rs11697008	1.00[JPT][hapmap]
rs11698906	1.00[JPT][hapmap]
rs12106104	1.00[JPT][hapmap]
rs12106261	1.00[JPT][hapmap]
rs1555412	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810689	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980701	1.00[ASN][1000 genomes]
rs1998234	1.00[JPT][hapmap]
rs2018662	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2038674	1.00[ASN][1000 genomes]
rs204610	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2209017	1.00[JPT][hapmap]
rs2209018	1.00[ASN][1000 genomes]
rs2209019	1.00[JPT][hapmap]
rs2327818	1.00[JPT][hapmap]
rs2327819	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3940133	1.00[ASN][1000 genomes]
rs4380310	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4814288	1.00[JPT][hapmap]
rs4814289	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4814290	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs59177302	1.00[ASN][1000 genomes]
rs59461685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033888	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6033897	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042525	1.00[ASN][1000 genomes]
rs6042548	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042552	1.00[ASN][1000 genomes]
rs6042553	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042581	1.00[ASN][1000 genomes]
rs6074697	1.00[JPT][hapmap]
rs6079309	1.00[ASN][1000 genomes]
rs6079331	1.00[ASN][1000 genomes]
rs6079346	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6079350	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6079353	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6079397	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6105221	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6105227	1.00[JPT][hapmap]
rs6110194	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7260702	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7261715	1.00[YRI][hapmap]
rs7261965	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7264001	1.00[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs7264152	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7273854	1.00[JPT][hapmap]
rs73255018	1.00[ASN][1000 genomes]
rs73255080	1.00[ASN][1000 genomes]
rs73264804	1.00[ASN][1000 genomes]
rs73269439	1.00[ASN][1000 genomes]
rs8118198	1.00[ASN][1000 genomes]
rs8125466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9753755	1.00[ASN][1000 genomes]
rs979409	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:67 , 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	chr20:14296000-14312000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr20:14303600-14308200	Strong transcription	Fetal Kidney	kidney
4	chr20:14303600-14323400	Weak transcription	Small Intestine	intestine
5	chr20:14304000-14308200	Strong transcription	Duodenum Mucosa	Duodenum
6	chr20:14304000-14313600	Weak transcription	Fetal Brain Male	brain
7	chr20:14304000-14315600	Weak transcription	HSMMtube	muscle
8	chr20:14304200-14310400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr20:14304200-14311000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:14304600-14309400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr20:14304600-14311800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr20:14304800-14314400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr20:14305200-14317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr20:14305400-14307400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:14305400-14309600	Strong transcription	Liver	Liver
16	chr20:14305400-14314400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr20:14305600-14307200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr20:14305800-14317200	Weak transcription	Aorta	Aorta
19	chr20:14306000-14308400	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr20:14306000-14310400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr20:14306000-14312800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:14306000-14314200	Weak transcription	HSMM	muscle
23	chr20:14306200-14307200	Strong transcription	Brain Angular Gyrus	brain
24	chr20:14306200-14307200	Strong transcription	Fetal Lung	lung
25	chr20:14306200-14307400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:14306200-14307400	Strong transcription	A549	lung
27	chr20:14306200-14307800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr20:14306200-14307800	Strong transcription	NHLF	lung
29	chr20:14306200-14308000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr20:14306200-14308200	Strong transcription	Brain Cingulate Gyrus	brain
31	chr20:14306200-14308200	Strong transcription	Colon Smooth Muscle	Colon
32	chr20:14306200-14308200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr20:14306200-14308200	Strong transcription	Gastric	stomach
34	chr20:14306200-14309800	Strong transcription	NHEK	skin
35	chr20:14306200-14313600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr20:14306400-14307200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr20:14306400-14307400	ZNF genes & repeats	Lung	lung
38	chr20:14306400-14307600	Strong transcription	Pancreatic Islets	Pancreatic Islet
39	chr20:14306400-14307800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr20:14306400-14307800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr20:14306400-14307800	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr20:14306400-14307800	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr20:14306400-14308000	Strong transcription	Fetal Brain Female	brain
44	chr20:14306400-14308200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr20:14306400-14308200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr20:14306400-14308200	ZNF genes & repeats	Brain Hippocampus Middle	brain
47	chr20:14306400-14308200	Strong transcription	Fetal Stomach	stomach
48	chr20:14306400-14308200	Strong transcription	Pancreas	Pancrea
49	chr20:14306400-14308200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr20:14306400-14308400	Strong transcription	Fetal Intestine Large	intestine

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