Variant report

Variant	rs1046912
Chromosome Location	chr11:64883547-64883548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:61)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64882969-64883650	MCF-7	breast:	n/a	n/a
2	POLR2A	chr11:64882895-64883565	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:64881621-64885776	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:64879949-64886482	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr11:64883041-64883665	A549	lung:	n/a	n/a
6	CHD2	chr11:64883534-64883727	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:64881694-64890247	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:64878789-64886874	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:64881996-64885883	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:64883534-64886531	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr11:64882063-64885673	IMR90	lung:	n/a	n/a
12	HCFC1	chr11:64882807-64885682	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:64878686-64885755	GM12891	blood:	n/a	n/a
14	POLR2A	chr11:64882084-64885696	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:64883381-64886247	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:64882903-64883625	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:64877568-64887885	HepG2	liver:	n/a	n/a
18	MTA3	chr11:64883433-64885739	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:64881378-64886742	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:64881632-64885818	GM12892	blood:	n/a	n/a
21	POLR2A	chr11:64881239-64886927	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr11:64882261-64883760	K562	blood:	n/a	n/a
23	POLR2A	chr11:64882118-64885676	GM12891	blood:	n/a	n/a
24	POLR2A	chr11:64882928-64883626	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:64881692-64883989	K562	blood:	n/a	n/a
26	POLR2A	chr11:64881717-64885793	GM12892	blood:	n/a	n/a
27	POLR2A	chr11:64883170-64883639	A549	lung:	n/a	n/a
28	POLR2A	chr11:64883067-64885727	PBDE	blood:	n/a	n/a
29	POLR2A	chr11:64881712-64885709	ECC-1	luminal epithelium:	n/a	n/a
30	MXI1	chr11:64883407-64885625	IMR90	lung:	n/a	n/a
31	POLR2A	chr11:64881830-64888134	K562	blood:	n/a	n/a
32	POLR2A	chr11:64883483-64885905	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr11:64883369-64885827	HL-60	blood:	n/a	n/a
34	TCF12	chr11:64883419-64883922	A549	lung:	n/a	n/a
35	POLR2A	chr11:64883383-64883867	HCT-116	colon:	n/a	n/a
36	POLR2A	chr11:64883380-64885500	HCT-116	colon:	n/a	n/a
37	POLR2A	chr11:64877637-64885859	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr11:64876227-64885692	HepG2	liver:	n/a	n/a
39	CHD1	chr11:64883304-64885887	IMR90	lung:	n/a	n/a
40	POLR2A	chr11:64881297-64885944	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr11:64881377-64885712	HL-60	blood:	n/a	n/a
42	POLR2A	chr11:64882841-64883704	A549	lung:	n/a	n/a
43	POLR2A	chr11:64883099-64883645	A549	lung:	n/a	n/a
44	POLR2A	chr11:64882813-64886104	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr11:64883111-64883635	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:64881262-64886939	K562	blood:	n/a	n/a
47	POLR2A	chr11:64882210-64885647	K562	blood:	n/a	n/a
48	POLR2A	chr11:64882223-64883570	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:64881703-64887066	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:64881725-64885651	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64883528-64883578	ECC-1	luminal epithelium:	n/a
2	chr11:64883528-64883578	HNPCEpiC	eye:	n/a
3	chr11:64883528-64883578	H1-hESC	embryonic stem cell:	embryo
4	chr11:64883528-64883578	PANC-1	pancreas:	n/a
5	chr11:64883528-64883578	SK-N-MC	brain:	n/a
6	chr11:64883528-64883578	HEK293	kidney:	embryo
7	chr11:64883528-64883578	Hela-S3	cervix:	n/a
8	chr11:64883528-64883578	SK-N-SH_RA	brain:	n/a
9	chr11:64883528-64883578	Caco-2	colon:	n/a
10	chr11:64883528-64883578	IMR90	lung:	fetal
11	chr11:64883528-64883578	AG09309	skin:	n/a
12	chr11:64883528-64883578	BJ	skin:	n/a
13	chr11:64883528-64883578	PrEC	prostate:	n/a
14	chr11:64883528-64883578	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:64883528-64883578	NB4	blood:	n/a
16	chr11:64883528-64883578	HUVEC	blood vessel:	n/a
17	chr11:64883528-64883578	AG09319	gingival:	n/a
18	chr11:64883528-64883578	HCPEpiC	choroid plexus:	n/a
19	chr11:64883528-64883578	Hepatocyte	liver:	n/a
20	chr11:64883528-64883578	HRPEpiC	eye:	n/a
21	chr11:64883528-64883578	HCM	heart:	n/a
22	chr11:64883528-64883578	NT2-D1	testis:	n/a
23	chr11:64883528-64883578	ProgFib	skin:	n/a
24	chr11:64883528-64883578	HIPEpiC	eye:	n/a
25	chr11:64883528-64883578	U87	brain:	n/a
26	chr11:64883528-64883578	T-47D	breast:	n/a
27	chr11:64883528-64883578	AG10803	skin:	n/a
28	chr11:64883528-64883578	HL-60	blood:	n/a
29	chr11:64883528-64883578	K562	blood:	n/a
30	chr11:64883528-64883578	AG04449	skin:	fetal
31	chr11:64883528-64883578	HCT-116	colon:	n/a
32	chr11:64883528-64883578	Jurkat	blood:	n/a
33	chr11:64883528-64883578	GM06990	blood:	n/a
34	chr11:64883528-64883578	LNCaP	prostate:	n/a
35	chr11:64883528-64883578	ovcar-3	ovarian:	n/a
36	chr11:64883528-64883578	AoSMC	blood vessel:	n/a
37	chr11:64883528-64883578	MCF10A-Er-Src	breast:	n/a
38	chr11:64883528-64883578	AG04450	lung:	fetal
39	chr11:64883528-64883578	NH-A	brain:	n/a
40	chr11:64883528-64883578	SKMC	muscle:	n/a
41	chr11:64883528-64883578	MCF-7	breast:	n/a
42	chr11:64883528-64883578	HAEpiC	amniotic membrane:	n/a
43	chr11:64883528-64883578	HepG2	liver:	n/a
44	chr11:64883528-64883578	HMEC	breast:	n/a
45	chr11:64883528-64883578	BE2_C	brain:	n/a
46	chr11:64883528-64883578	HRE	kidney:	n/a
47	chr11:64883528-64883578	HRCEpiC	kidney:	n/a
48	chr11:64883528-64883578	HEEpiC	esophagus:	n/a
49	chr11:64883528-64883578	PFSK-1	brain:	n/a
50	chr11:64883528-64883578	RPTEC	kidney:	n/a

(count:37 , 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	chr11:64881148..64883830-chr11:64986799..64989098,2	MCF-7	breast:
6	chr11:64544471..64546951-chr11:64883207..64885206,3	K562	blood:
7	chr11:64778393..64787449-chr11:64877655..64886980,25	K562	blood:
8	chr11:64569309..64573413-chr11:64882963..64885967,3	K562	blood:
9	chr11:64654425..64656235-chr11:64883004..64885352,2	K562	blood:
10	chr11:64568159..64573413-chr11:64882450..64885409,5	K562	blood:
11	chr11:64544278..64548048-chr11:64882517..64885401,5	K562	blood:
12	chr11:64609572..64613469-chr11:64883335..64886835,8	MCF-7	breast:
13	chr11:64553028..64555577-chr11:64882403..64884702,2	MCF-7	breast:
14	chr11:64862526..64865749-chr11:64882167..64886670,6	K562	blood:
15	chr11:64642261..64647543-chr11:64882719..64886329,5	MCF-7	breast:
16	chr11:64806922..64809393-chr11:64883452..64886674,3	MCF-7	breast:
17	chr11:64643589..64645871-chr11:64883152..64885290,3	K562	blood:
18	chr11:64880606..64886969-chr11:64935331..64942091,20	K562	blood:
19	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
20	chr11:64643590..64647956-chr11:64883297..64887661,6	MCF-7	breast:
21	chr11:64882671..64884203-chr11:65082144..65083671,2	K562	blood:
22	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
23	chr11:64881935..64884142-chr11:65015937..65018143,2	K562	blood:
24	chr11:64610442..64614915-chr11:64882306..64888577,8	K562	blood:
25	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
26	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
27	chr11:64878261..64886969-chr11:64935331..64941944,21	K562	blood:
28	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
29	chr11:62607346..62609197-chr11:64882535..64884835,2	MCF-7	breast:
30	chr11:64882968..64888833-chr11:64945101..64949501,11	K562	blood:
31	chr11:64881095..64883616-chr11:64967076..64970202,3	K562	blood:
32	chr11:64849686..64855071-chr11:64883547..64886732,9	MCF-7	breast:
33	chr11:64883520..64885092-chr15:69744413..69746307,2	MCF-7	breast:
34	chr11:64606648..64614730-chr11:64876453..64886748,20	MCF-7	breast:
35	chr11:64881531..64883616-chr11:64967521..64970202,2	K562	blood:
36	chr11:64764345..64766401-chr11:64882130..64883731,2	MCF-7	breast:
37	chr11:64883484..64885408-chr6:30582873..30584863,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254501	TF binding region
ENSG00000255173	TF binding region
ENSG00000255173	CpG island
ENSG00000254501	CpG island
ENSG00000146670	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000197847	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000269290	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000249251	Chromatin interaction
ENSG00000168062	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000137818	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000149798	Chromatin interaction
ENSG00000149823	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11556920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604099	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11604621	1.00[AFR][1000 genomes]
rs11604798	0.86[ASN][1000 genomes]
rs33981236	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35251366	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs769442	1.00[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1046912	ENSG00000149809	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64880800-64883600	Weak transcription	A549	lung
2	chr11:64881000-64883600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:64881000-64883800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:64881000-64884200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:64881000-64884200	Weak transcription	Aorta	Aorta
6	chr11:64881000-64884200	Weak transcription	Right Atrium	heart
7	chr11:64881200-64883600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:64881200-64883600	Weak transcription	Left Ventricle	heart
9	chr11:64881200-64883600	Weak transcription	NH-A	brain
10	chr11:64881200-64883800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:64881200-64883800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:64881200-64883800	Weak transcription	Psoas Muscle	Psoas
13	chr11:64881200-64883800	Weak transcription	HUVEC	blood vessel
14	chr11:64881200-64884000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:64881200-64884000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:64881400-64883600	Weak transcription	Primary B cells from cord blood	blood
17	chr11:64881400-64883800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:64881400-64883800	Weak transcription	HSMMtube	muscle
19	chr11:64881400-64884000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:64881400-64884200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:64881400-64884200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:64881600-64883600	Weak transcription	Fetal Lung	lung
23	chr11:64881600-64883800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:64881600-64883800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:64881600-64883800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:64881600-64883800	Weak transcription	Fetal Kidney	kidney
27	chr11:64881600-64883800	Weak transcription	Small Intestine	intestine
28	chr11:64881800-64883800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:64881800-64884000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:64881800-64884000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr11:64882000-64883600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:64882000-64883600	Strong transcription	Brain Hippocampus Middle	brain
33	chr11:64882000-64883800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:64882200-64883600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:64882200-64883600	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr11:64882200-64883600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr11:64882200-64883800	Genic enhancers	Brain Germinal Matrix	brain
38	chr11:64882200-64883800	Strong transcription	Ovary	ovary
39	chr11:64882200-64883800	Genic enhancers	Pancreas	Pancrea
40	chr11:64882200-64884000	Genic enhancers	Esophagus	oesophagus
41	chr11:64882200-64886600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:64882400-64883600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:64882400-64883600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:64882400-64884000	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr11:64882400-64884200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:64882400-64884200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:64882600-64883600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:64882600-64883600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr11:64882600-64883600	Strong transcription	Osteobl	bone
50	chr11:64882600-64884200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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