Variant report

Variant	rs3809047
Chromosome Location	chr11:46367702-46367703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr11:46367382-46369131	NB4	blood:	n/a	n/a
2	POLR2A	chr11:46367645-46369105	HL-60	blood:	n/a	n/a
3	MAZ	chr11:46367612-46367754	GM12878	blood:	n/a	n/a
4	STAT5A	chr11:46367177-46367751	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:46367677-46367945	GM12878	blood:	n/a	n/a
6	EBF1	chr11:46367687-46368039	GM12878	blood:	n/a	n/a
7	MAX	chr11:46366451-46368261	NB4	blood:	n/a	chr11:46366897-46366907
8	RUNX3	chr11:46367631-46367994	GM12878	blood:	n/a	n/a
9	CHD2	chr11:46367660-46367840	GM12878	blood:	n/a	n/a
10	EBF1	chr11:46367688-46368017	GM12878	blood:	n/a	n/a
11	CTCF	chr11:46367680-46367830	HepG2	liver:	n/a	n/a
12	RUNX3	chr11:46367596-46368037	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46257250..46262210-chr11:46367431..46371476,7	K562	blood:
2	chr11:46367411..46370383-chr11:46395468..46399934,4	K562	blood:
3	chr11:46329128..46331454-chr11:46367037..46368744,2	K562	blood:
4	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
5	chr11:46364302..46366934-chr11:46366940..46368898,2	K562	blood:
6	chr11:46366347..46371334-chr11:46384499..46389085,13	MCF-7	breast:

No data

Variant related genes	Relation type
DGKZ	TF binding region
ENSG00000149091	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000264102	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10160701	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs11038897	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs11038906	0.85[JPT][hapmap]
rs11038914	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs11819869	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs12272795	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs12283172	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs12574250	0.85[JPT][hapmap]
rs12574668	0.85[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs12575519	0.97[ASN][1000 genomes]
rs12576115	0.97[ASN][1000 genomes]
rs12577142	0.97[ASN][1000 genomes]
rs12578042	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs1472001	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs1489192	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs16938506	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs17197116	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs2046768	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2067482	0.81[ASN][1000 genomes]
rs2171667	0.85[JPT][hapmap]
rs2171668	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2279465	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2288249	1.00[CEU][hapmap];0.83[GIH][hapmap];0.87[EUR][1000 genomes]
rs2291487	0.85[JPT][hapmap]
rs2864076	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs2902858	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs34406563	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs35652107	0.84[EUR][1000 genomes]
rs3740974	0.97[ASN][1000 genomes]
rs3740977	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3802888	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs5028615	0.88[EUR][1000 genomes]
rs55750336	0.86[EUR][1000 genomes]
rs59319338	0.97[ASN][1000 genomes]
rs61882678	0.97[ASN][1000 genomes]
rs61882682	0.97[ASN][1000 genomes]
rs61882683	0.97[ASN][1000 genomes]
rs61882691	0.81[ASN][1000 genomes]
rs6485682	0.85[JPT][hapmap]
rs7112229	0.85[JPT][hapmap]
rs7130141	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs7930103	0.85[JPT][hapmap]
rs7932866	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs7936413	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7946705	0.81[ASN][1000 genomes]
rs7951870	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs876701	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription 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 miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46360800-46368000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr11:46361400-46367800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr11:46362000-46368600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:46363200-46368600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:46363600-46368000	Weak transcription	Fetal Heart	heart
6	chr11:46364000-46368200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:46364000-46369000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:46364200-46368200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:46365400-46368600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:46365600-46368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:46365600-46368200	Weak transcription	Fetal Lung	lung
12	chr11:46365600-46368400	Weak transcription	A549	lung
13	chr11:46365600-46368600	Weak transcription	Ovary	ovary
14	chr11:46366200-46369200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:46366400-46368000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:46366400-46368200	Active TSS	Brain Anterior Caudate	brain
17	chr11:46366400-46368400	Active TSS	Right Atrium	heart
18	chr11:46366400-46368400	Active TSS	Right Ventricle	heart
19	chr11:46366400-46368600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr11:46366400-46368600	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr11:46366400-46368600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:46366400-46368800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr11:46366400-46368800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr11:46366400-46368800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr11:46366400-46368800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr11:46366400-46368800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr11:46366400-46368800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:46366400-46368800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:46366400-46368800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:46366400-46368800	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr11:46366400-46368800	Flanking Active TSS	HMEC	breast
32	chr11:46366400-46368800	Flanking Active TSS	NHEK	skin
33	chr11:46366400-46369600	Active TSS	Rectal Smooth Muscle	rectum
34	chr11:46366600-46367800	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr11:46366600-46367800	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr11:46366600-46368200	Active TSS	Stomach Smooth Muscle	stomach
37	chr11:46366600-46368600	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr11:46366600-46368800	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr11:46366600-46368800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr11:46366600-46368800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr11:46366600-46368800	Flanking Active TSS	Placenta	Placenta
42	chr11:46366600-46368800	Flanking Active TSS	Fetal Thymus	thymus
43	chr11:46366600-46368800	Flanking Active TSS	GM12878-XiMat	blood
44	chr11:46366600-46368800	Flanking Active TSS	HUVEC	blood vessel
45	chr11:46366600-46369600	Active TSS	Psoas Muscle	Psoas
46	chr11:46366800-46367800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:46366800-46367800	Weak transcription	Dnd41	blood
48	chr11:46366800-46368200	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr11:46366800-46368400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:46366800-46368400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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