Variant report

Variant	rs3782094
Chromosome Location	chr11:64892470-64892471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr11:64892375-64892660	K562	blood:	n/a	n/a
2	POLR2A	chr11:64892442-64892509	HepG2	liver:	n/a	n/a
3	GATA3	chr11:64892164-64892797	MCF-7	breast:	n/a	n/a
4	JUND	chr11:64892437-64892619	K562	blood:	n/a	n/a
5	FOXA1	chr11:64892204-64892565	T-47D	breast:	n/a	chr11:64892358-64892370
6	TEAD4	chr11:64892318-64892816	K562	blood:	n/a	n/a
7	POLR2A	chr11:64892329-64893461	K562	blood:	n/a	n/a
8	GATA3	chr11:64892257-64892773	T-47D	breast:	n/a	n/a
9	POLR2A	chr11:64892301-64898022	K562	blood:	n/a	n/a
10	POLR2A	chr11:64892382-64892688	GM12878	blood:	n/a	n/a
11	GATA2	chr11:64892338-64892716	K562	blood:	n/a	n/a
12	GATA3	chr11:64892376-64892798	MCF-7	breast:	n/a	n/a
13	RCOR1	chr11:64892449-64892714	K562	blood:	n/a	n/a
14	POLR2A	chr11:64892395-64892959	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:64892389-64896881	GM12878	blood:	n/a	n/a
16	FOXA1	chr11:64892185-64892599	T-47D	breast:	n/a	chr11:64892358-64892370
17	GATA3	chr11:64892274-64892703	T-47D	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64887671..64894047-chr11:64935608..64941283,15	K562	blood:
2	chr11:64544574..64547411-chr11:64891542..64893399,2	MCF-7	breast:
3	chr11:64643435..64646351-chr11:64890486..64893627,3	K562	blood:
4	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
5	chr11:64888312..64893387-chr11:64951706..64955535,4	K562	blood:
6	chr11:64892056..64894103-chr11:64941520..64944795,3	K562	blood:
7	chr11:64892136..64894424-chr11:64912450..64914597,2	MCF-7	breast:
8	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:

No data

Variant related genes	Relation type
FAU	TF binding region
ENSG00000168066	Chromatin interaction
ENSG00000249251	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000110047	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10791813	0.84[EUR][1000 genomes]
rs11227118	0.92[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11227120	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11231929	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs1129195	0.85[CEU][hapmap];0.84[CHB][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1196048	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1300845	0.89[CHB][hapmap]
rs2282498	0.92[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2282499	0.85[CEU][hapmap];0.84[CHB][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap]
rs2507814	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs36057475	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3802936	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3862374	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs475089	0.91[ASN][1000 genomes]
rs477539	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs484182	1.00[JPT][hapmap]
rs486984	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs488686	0.89[CHB][hapmap]
rs489489	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs502333	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs534236	1.00[JPT][hapmap]
rs548150	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs562590	0.84[CHB][hapmap]
rs564966	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs566221	0.89[CHB][hapmap]
rs653111	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6591869	1.00[JPT][hapmap]
rs7123226	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7130183	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7943007	0.92[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs947799	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9971546	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs3782094	RAB1B	cis	parietal	SCAN
rs3782094	SLC22A20	cis	cerebellum	SCAN
rs3782094	SCGB1D4	cis	parietal	SCAN
rs3782094	SCGB2A2	cis	cerebellum	SCAN
rs3782094	SNORD31	cis	parietal	SCAN
rs3782094	FADS1	cis	parietal	SCAN
rs3782094	SUV420H1	cis	parietal	SCAN
rs3782094	FADS3	cis	cerebellum	SCAN
rs3782094	ZNHIT2	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64890200-64892600	Weak transcription	Gastric	stomach
2	chr11:64890200-64894800	Weak transcription	Small Intestine	intestine
3	chr11:64890200-64897200	Weak transcription	Psoas Muscle	Psoas
4	chr11:64890200-64900600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:64890200-64900800	Weak transcription	Right Atrium	heart
6	chr11:64890600-64892600	Weak transcription	Colonic Mucosa	Colon
7	chr11:64890600-64893000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:64890800-64893800	Weak transcription	Fetal Kidney	kidney
9	chr11:64890800-64894200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:64890800-64899200	Weak transcription	Fetal Brain Male	brain
11	chr11:64891000-64892600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:64891000-64893000	Weak transcription	NH-A	brain
13	chr11:64891000-64894000	Weak transcription	HUVEC	blood vessel
14	chr11:64891000-64899600	Strong transcription	Placenta	Placenta
15	chr11:64891000-64900200	Weak transcription	Fetal Heart	heart
16	chr11:64891200-64894200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr11:64891200-64900000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:64891200-64900200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:64891400-64900000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:64891600-64892800	Genic enhancers	K562	blood
21	chr11:64891600-64896800	Strong transcription	Primary B cells from cord blood	blood
22	chr11:64891600-64898400	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:64891600-64898800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr11:64891600-64899400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:64891600-64899800	Strong transcription	Primary T cells from cord blood	blood
26	chr11:64891600-64899800	Strong transcription	Fetal Stomach	stomach
27	chr11:64891600-64899800	Strong transcription	Fetal Thymus	thymus
28	chr11:64891600-64900400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:64891600-64900400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:64891800-64893200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:64891800-64893600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:64891800-64894000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:64891800-64894800	Strong transcription	Hela-S3	cervix
34	chr11:64891800-64897400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:64891800-64897600	Strong transcription	Liver	Liver
36	chr11:64891800-64898200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:64891800-64898800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr11:64891800-64899000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:64891800-64899000	Strong transcription	Dnd41	blood
40	chr11:64891800-64899200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:64891800-64899200	Strong transcription	Brain Cingulate Gyrus	brain
42	chr11:64891800-64899400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:64891800-64899400	Strong transcription	Fetal Muscle Leg	muscle
44	chr11:64891800-64899400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr11:64891800-64899600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:64891800-64899600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:64891800-64899600	Strong transcription	Fetal Brain Female	brain
48	chr11:64891800-64899800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:64891800-64899800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:64891800-64899800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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