Variant report

Variant	rs1706937
Chromosome Location	chr11:64883864-64883865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr11:64883750-64885555	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:64881621-64885776	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:64879949-64886482	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:64881694-64890247	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr11:64878789-64886874	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:64881996-64885883	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:64883534-64886531	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr11:64882063-64885673	IMR90	lung:	n/a	n/a
9	HCFC1	chr11:64882807-64885682	Hela-S3	cervix:	n/a	n/a
10	MXI1	chr11:64883672-64885798	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr11:64878686-64885755	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:64882084-64885696	GM12878	blood:	n/a	n/a
13	USF2	chr11:64883556-64885660	Hela-S3	cervix:	n/a	chr11:64885212-64885228
14	POLR2A	chr11:64883381-64886247	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:64877568-64887885	HepG2	liver:	n/a	n/a
16	MTA3	chr11:64883433-64885739	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:64881378-64886742	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:64881632-64885818	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:64881239-64886927	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr11:64882118-64885676	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:64881692-64883989	K562	blood:	n/a	n/a
22	POLR2A	chr11:64881717-64885793	GM12892	blood:	n/a	n/a
23	POLR2A	chr11:64883845-64885974	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:64883067-64885727	PBDE	blood:	n/a	n/a
25	POLR2A	chr11:64881712-64885709	ECC-1	luminal epithelium:	n/a	n/a
26	MXI1	chr11:64883407-64885625	IMR90	lung:	n/a	n/a
27	POLR2A	chr11:64881830-64888134	K562	blood:	n/a	n/a
28	POLR2A	chr11:64883483-64885905	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr11:64883369-64885827	HL-60	blood:	n/a	n/a
30	TCF12	chr11:64883419-64883922	A549	lung:	n/a	n/a
31	POLR2A	chr11:64883383-64883867	HCT-116	colon:	n/a	n/a
32	POLR2A	chr11:64883794-64885634	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:64883380-64885500	HCT-116	colon:	n/a	n/a
34	MAX	chr11:64883842-64885653	ECC-1	luminal epithelium:	n/a	chr11:64885269-64885278
35	POLR2A	chr11:64877637-64885859	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr11:64876227-64885692	HepG2	liver:	n/a	n/a
37	CHD1	chr11:64883304-64885887	IMR90	lung:	n/a	n/a
38	POLR2A	chr11:64881297-64885944	Hela-S3	cervix:	n/a	n/a
39	PML	chr11:64883850-64885676	MCF-7	breast:	n/a	n/a
40	POLR2A	chr11:64881377-64885712	HL-60	blood:	n/a	n/a
41	POLR2A	chr11:64882813-64886104	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr11:64881262-64886939	K562	blood:	n/a	n/a
43	MAX	chr11:64883857-64885669	MCF-7	breast:	n/a	chr11:64885269-64885278
44	SIN3AK20	chr11:64883684-64885814	MCF-7	breast:	n/a	n/a
45	POLR2A	chr11:64882210-64885647	K562	blood:	n/a	n/a
46	JUND	chr11:64883841-64885742	MCF-7	breast:	n/a	n/a
47	POLR2A	chr11:64883708-64885701	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:64883732-64884127	HCT-116	colon:	n/a	n/a
49	MAX	chr11:64883825-64885589	ECC-1	luminal epithelium:	n/a	chr11:64885269-64885278
50	MAX	chr11:64883849-64885730	A549	lung:	n/a	chr11:64885269-64885278

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64883300..64885236-chr11:64972448..64974242,2	K562	blood:
2	chr11:64690573..64692350-chr11:64882127..64884352,3	K562	blood:
3	chr11:64536552..64539187-chr11:64882695..64885248,2	MCF-7	breast:
4	chr11:64779861..64784378-chr11:64881512..64885598,8	MCF-7	breast:
5	chr11:64544471..64546951-chr11:64883207..64885206,3	K562	blood:
6	chr11:64778393..64787449-chr11:64877655..64886980,25	K562	blood:
7	chr11:64569309..64573413-chr11:64882963..64885967,3	K562	blood:
8	chr11:64654425..64656235-chr11:64883004..64885352,2	K562	blood:
9	chr11:64568159..64573413-chr11:64882450..64885409,5	K562	blood:
10	chr11:64544278..64548048-chr11:64882517..64885401,5	K562	blood:
11	chr11:64609572..64613469-chr11:64883335..64886835,8	MCF-7	breast:
12	chr11:64553028..64555577-chr11:64882403..64884702,2	MCF-7	breast:
13	chr11:64862526..64865749-chr11:64882167..64886670,6	K562	blood:
14	chr11:64642261..64647543-chr11:64882719..64886329,5	MCF-7	breast:
15	chr11:64806922..64809393-chr11:64883452..64886674,3	MCF-7	breast:
16	chr11:64643589..64645871-chr11:64883152..64885290,3	K562	blood:
17	chr11:64880606..64886969-chr11:64935331..64942091,20	K562	blood:
18	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
19	chr11:64643590..64647956-chr11:64883297..64887661,6	MCF-7	breast:
20	chr11:64882671..64884203-chr11:65082144..65083671,2	K562	blood:
21	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
22	chr11:64881935..64884142-chr11:65015937..65018143,2	K562	blood:
23	chr11:64610442..64614915-chr11:64882306..64888577,8	K562	blood:
24	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
25	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
26	chr11:64878261..64886969-chr11:64935331..64941944,21	K562	blood:
27	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
28	chr11:62607346..62609197-chr11:64882535..64884835,2	MCF-7	breast:
29	chr11:64882968..64888833-chr11:64945101..64949501,11	K562	blood:
30	chr11:64883613..64891269-chr11:65027573..65033885,11	K562	blood:
31	chr11:64849686..64855071-chr11:64883547..64886732,9	MCF-7	breast:
32	chr11:64883520..64885092-chr15:69744413..69746307,2	MCF-7	breast:
33	chr11:64606648..64614730-chr11:64876453..64886748,20	MCF-7	breast:
34	chr11:64611161..64616461-chr11:64883590..64887057,5	K562	blood:
35	chr11:64883484..64885408-chr6:30582873..30584863,2	MCF-7	breast:
36	chr11:64883635..64887153-chr11:65027849..65031198,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254501	TF binding region
ENSG00000255173	TF binding region
ENSG00000014216	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000249251	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000137818	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000149798	Chromatin interaction
ENSG00000269290	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1129195	0.82[CEU][hapmap]
rs1152639	0.96[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap]
rs1196043	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196045	0.96[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap]
rs1206196	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12362669	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12363102	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2282499	0.82[CEU][hapmap]
rs35661464	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3850946	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3850947	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4258384	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs544944	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs566221	0.81[YRI][hapmap]
rs769440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	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	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1706937	FADS3	cis	cerebellum	SCAN
rs1706937	RAB1B	cis	parietal	SCAN
rs1706937	SNORD31	cis	parietal	SCAN
rs1706937	SCGB1D4	cis	parietal	SCAN
rs1706937	FADS1	cis	parietal	SCAN
rs1706937	NCBP2	trans	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64881000-64884200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:64881000-64884200	Weak transcription	Aorta	Aorta
3	chr11:64881000-64884200	Weak transcription	Right Atrium	heart
4	chr11:64881200-64884000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:64881200-64884000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:64881400-64884000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:64881400-64884200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:64881400-64884200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:64881800-64884000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:64881800-64884000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:64882200-64884000	Genic enhancers	Esophagus	oesophagus
12	chr11:64882200-64886600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:64882400-64884000	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr11:64882400-64884200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:64882400-64884200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:64882600-64884200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:64882800-64884600	Enhancers	Fetal Brain Male	brain
18	chr11:64883000-64884000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
19	chr11:64883000-64884000	Genic enhancers	Adipose Nuclei	Adipose
20	chr11:64883000-64884000	Genic enhancers	Brain Substantia Nigra	brain
21	chr11:64883000-64884200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr11:64883000-64884200	Genic enhancers	Fetal Muscle Leg	muscle
23	chr11:64883000-64884200	Genic enhancers	Fetal Thymus	thymus
24	chr11:64883000-64884200	Enhancers	Stomach Mucosa	stomach
25	chr11:64883200-64884000	Enhancers	Primary T cells from cord blood	blood
26	chr11:64883200-64884000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:64883200-64884000	Genic enhancers	Fetal Intestine Large	intestine
28	chr11:64883200-64884000	Genic enhancers	Placenta	Placenta
29	chr11:64883200-64884000	Transcr. at gene 5' and 3'	Hela-S3	cervix
30	chr11:64883200-64884200	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr11:64883200-64884200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr11:64883200-64884200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:64883200-64884200	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr11:64883200-64884200	Genic enhancers	Gastric	stomach
35	chr11:64883200-64884400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:64883400-64884000	Genic enhancers	H1 Cell Line	embryonic stem cell
37	chr11:64883400-64884000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:64883400-64884000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:64883400-64884000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:64883400-64884000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:64883400-64884000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:64883400-64884000	Enhancers	Liver	Liver
43	chr11:64883400-64884000	Genic enhancers	Colon Smooth Muscle	Colon
44	chr11:64883400-64884000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr11:64883400-64884000	Enhancers	Fetal Brain Female	brain
46	chr11:64883400-64884000	Genic enhancers	Fetal Intestine Small	intestine
47	chr11:64883400-64884000	Transcr. at gene 5' and 3'	Spleen	Spleen
48	chr11:64883400-64884000	Transcr. at gene 5' and 3'	Dnd41	blood
49	chr11:64883400-64884000	Transcr. at gene 5' and 3'	NHEK	skin
50	chr11:64883400-64884200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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