Variant report

Variant	rs4814253
Chromosome Location	chr20:13715387-13715388
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	chr20:13705780..13708351-chr20:13714323..13716967,2	MCF-7	breast:
2	chr20:13714426..13715997-chr20:13735945..13737850,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10485767	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11696168	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12625600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12625704	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3789336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4813143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6105151	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6105160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6110019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6110023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6110037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6110050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6514441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7360405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736365	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]

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	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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
5	nsv1061323	chr20:13551004-13746346	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv531478	chr20:13580524-13814797	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	4 gene(s)	inside rSNPs	diseases
8	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13692200-13745000	Weak transcription	Small Intestine	intestine
2	chr20:13692400-13717600	Strong transcription	Dnd41	blood
3	chr20:13693000-13721400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr20:13693000-13746400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr20:13694400-13748000	Weak transcription	Gastric	stomach
6	chr20:13694600-13764400	Weak transcription	Stomach Mucosa	stomach
7	chr20:13694800-13718200	Weak transcription	Psoas Muscle	Psoas
8	chr20:13696000-13715600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr20:13697200-13745000	Weak transcription	Colonic Mucosa	Colon
10	chr20:13697600-13745800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr20:13698400-13739000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr20:13698600-13725400	Weak transcription	Hela-S3	cervix
13	chr20:13699400-13715600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr20:13700800-13728400	Weak transcription	Fetal Heart	heart
15	chr20:13702400-13717400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr20:13705600-13715400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr20:13706400-13720400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr20:13707200-13721400	Weak transcription	Aorta	Aorta
19	chr20:13707200-13721600	Weak transcription	NHLF	lung
20	chr20:13708800-13721800	Weak transcription	Fetal Brain Male	brain
21	chr20:13709200-13721600	Weak transcription	HMEC	breast
22	chr20:13711200-13715400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr20:13711400-13715400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr20:13711600-13717000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:13711800-13715400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr20:13712400-13722200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr20:13712800-13745000	Weak transcription	Pancreas	Pancrea
28	chr20:13713000-13721400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr20:13713000-13746200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr20:13713000-13747400	Weak transcription	Right Ventricle	heart
31	chr20:13713000-13748600	Weak transcription	Spleen	Spleen
32	chr20:13713200-13721400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr20:13713200-13721400	Weak transcription	Lung	lung
34	chr20:13713200-13728800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr20:13713600-13721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr20:13713800-13717800	Weak transcription	Fetal Lung	lung
37	chr20:13713800-13721400	Weak transcription	Thymus	Thymus
38	chr20:13714000-13717800	Weak transcription	Fetal Stomach	stomach
39	chr20:13714000-13730400	Weak transcription	Esophagus	oesophagus
40	chr20:13714000-13731200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr20:13714000-13745400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr20:13714200-13716400	Weak transcription	Colon Smooth Muscle	Colon
43	chr20:13714200-13717400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr20:13714200-13720400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr20:13714200-13720400	Weak transcription	Fetal Intestine Large	intestine
46	chr20:13714200-13721400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr20:13714200-13721400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr20:13714200-13721400	Weak transcription	Fetal Intestine Small	intestine
49	chr20:13714200-13721400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr20:13714200-13722000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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