Variant report

Variant	rs1531486
Chromosome Location	chr20:52686396-52686397
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr20:52683721-52688026	A549	lung:	n/a	chr20:52684379-52684388
2	GATA3	chr20:52685865-52686584	T-47D	breast:	n/a	n/a
3	TCF7L2	chr20:52685991-52686512	PANC-1	pancreas:	n/a	chr20:52686233-52686247
4	FOXA1	chr20:52686215-52686606	T-47D	breast:	n/a	n/a
5	TCF7L2	chr20:52686039-52686420	MCF-7	breast:	n/a	chr20:52686233-52686247
6	NR2F2	chr20:52683737-52688780	MCF-7	breast:	n/a	n/a
7	NR2F2	chr20:52682851-52688769	MCF-7	breast:	n/a	n/a
8	MAX	chr20:52682798-52688785	MCF-7	breast:	n/a	chr20:52685611-52685621
9	MEF2A	chr20:52686016-52686560	SK-N-SH	brain:	n/a	chr20:52686494-52686511
10	CTCF	chr20:52686360-52686510	HepG2	liver:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:56706894..56712075-chr20:52682647..52687928,11	MCF-7	breast:
2	chr17:56734849..56737585-chr20:52685762..52689219,5	MCF-7	breast:
3	chr20:52205396..52212193-chr20:52682424..52689159,12	MCF-7	breast:
4	chr20:46130482..46132590-chr20:52685698..52688265,2	MCF-7	breast:
5	chr20:46412807..46415546-chr20:52683653..52686507,2	MCF-7	breast:
6	chr1:114472848..114474894-chr20:52685682..52687660,2	MCF-7	breast:
7	chr17:56734557..56739323-chr20:52682038..52691817,18	MCF-7	breast:
8	chr20:52554098..52560340-chr20:52684210..52688448,9	MCF-7	breast:
9	chr20:45946563..45948166-chr20:52686092..52688175,2	MCF-7	breast:
10	chr20:52682759..52688435-chr20:55837866..55842743,7	MCF-7	breast:
11	chr20:52682551..52687365-chr20:55839673..55842619,5	MCF-7	breast:
12	chr11:20042762..20044450-chr20:52683643..52686513,2	MCF-7	breast:
13	chr1:149222502..149226607-chr20:52685912..52688117,3	MCF-7	breast:
14	chr17:56755655..56758495-chr20:52684394..52686862,2	MCF-7	breast:
15	chr20:52684414..52687124-chr6:151977348..151979114,2	MCF-7	breast:
16	chr20:52685889..52686408-chr3:119539503..119540491,2	MCF-7	breast:
17	chr17:56706875..56710932-chr20:52683217..52688645,17	MCF-7	breast:

No data

Variant related genes	Relation type
MIR4756	TF binding region
ENSG00000101144	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000236352	Chromatin interaction
ENSG00000091831	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000200997	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000266826	Chromatin interaction
ENSG00000166833	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000267882	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11699339	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13037207	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1531485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1537439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290440	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs290447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3787547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3787550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394732	0.87[YRI][hapmap]
rs459044	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs459376	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs460470	0.82[YRI][hapmap]
rs460536	0.92[CEU][hapmap];0.86[CHB][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs461027	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs462041	0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs462083	0.94[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs462703	0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs465096	0.89[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs465156	0.92[CEU][hapmap];0.81[CHB][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6064043	0.84[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6068765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6068773	0.87[ASN][1000 genomes]
rs6068774	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs6512935	0.84[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs807216	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
3	nsv912944	chr20:52681759-52693614	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1531486	BCAS1	cis	multi-tissue	Pritchard
rs1531486	BCAS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52682400-52686800	Weak transcription	Placenta	Placenta
2	chr20:52683000-52687600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr20:52683400-52687400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr20:52683800-52687200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr20:52684000-52687400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr20:52684000-52687600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr20:52684000-52687600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr20:52684200-52687200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr20:52684200-52687200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:52684200-52687600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr20:52684400-52687200	Active TSS	Stomach Mucosa	stomach
12	chr20:52684400-52687400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr20:52684600-52686400	Weak transcription	K562	blood
14	chr20:52684600-52686800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr20:52684600-52687000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr20:52684600-52687400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr20:52685000-52686600	Active TSS	Fetal Intestine Small	intestine
18	chr20:52685000-52686800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr20:52685200-52686400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr20:52685200-52686800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr20:52685400-52686400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr20:52685400-52686400	Weak transcription	Pancreas	Pancrea
23	chr20:52685400-52687000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr20:52685400-52687400	Active TSS	Colonic Mucosa	Colon
25	chr20:52685800-52686400	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr20:52685800-52686400	Weak transcription	Hela-S3	cervix
27	chr20:52686000-52687000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr20:52686000-52687000	Active TSS	Esophagus	oesophagus
29	chr20:52686000-52687200	Active TSS	Fetal Stomach	stomach
30	chr20:52686000-52687200	Active TSS	Gastric	stomach
31	chr20:52686000-52687200	Active TSS	Rectal Smooth Muscle	rectum
32	chr20:52686000-52687400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr20:52686200-52686400	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr20:52686200-52686600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr20:52686200-52687000	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr20:52686200-52687400	Flanking Active TSS	A549	lung
37	chr20:52686200-52687400	Flanking Active TSS	HepG2	liver

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