Variant report

Variant	rs16964249
Chromosome Location	chr15:44086406-44086407
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:44086400-44086416	K562	blood:	n/a	n/a
2	POLR2A	chr15:44086249-44089635	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:44083584-44094591	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:44086375-44086701	MCF-7	breast:	n/a	n/a
5	POLR2A	chr15:44086405-44086641	GM12891	blood:	n/a	n/a
6	POLR2A	chr15:44083599-44090489	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr15:44083778-44090394	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:44086352-44089620	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:44086370-44090282	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:44086380-44089749	PFSK-1	brain:	n/a	n/a
11	HEY1	chr15:44086372-44088091	K562	blood:	n/a	n/a
12	POLR2A	chr15:44086356-44090298	GM12891	blood:	n/a	n/a
13	POLR2A	chr15:44083702-44086633	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr15:44086244-44089715	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr15:44086268-44089724	GM12891	blood:	n/a	n/a
16	POLR2A	chr15:44083824-44090301	HepG2	liver:	n/a	n/a
17	POLR2A	chr15:44086338-44089719	GM12891	blood:	n/a	n/a
18	POLR2A	chr15:44086357-44086592	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr15:44086321-44089674	GM12892	blood:	n/a	n/a
20	POLR2A	chr15:44086369-44089650	K562	blood:	n/a	n/a
21	POLR2A	chr15:44086378-44088042	K562	blood:	n/a	n/a
22	POLR2A	chr15:44086398-44086639	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr15:44086399-44089730	GM12892	blood:	n/a	n/a
24	POLR2A	chr15:44083911-44089574	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:44086180-44091914	HepG2	liver:	n/a	n/a
26	POLR2A	chr15:44083757-44089630	IMR90	lung:	n/a	n/a
27	POLR2A	chr15:44086394-44094451	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:69454228..69455895-chr15:44084318..44086829,2	MCF-7	breast:
2	chr15:44082965..44094882-chr15:44108427..44121402,26	K562	blood:
3	15:44001645-44015047..15:44080886-44089111	Hela-S3	cervix:
4	chr15:44065408..44074556-chr15:44080543..44088380,28	MCF-7	breast:
5	chr15:44081892..44088686-chr15:44115665..44120334,7	MCF-7	breast:
6	chr15:44082407..44088245-chr15:44114276..44118984,12	MCF-7	breast:
7	chr15:44065227..44073214-chr15:44081584..44094479,46	MCF-7	breast:

No data

Variant related genes	Relation type
HYPK	TF binding region
MIR1282	TF binding region
ENSG00000166763	Chromatin interaction
ENSG00000110092	Chromatin interaction
ENSG00000092470	Chromatin interaction
ENSG00000242866	Chromatin interaction
ENSG00000140264	Chromatin interaction
ENSG00000128886	Chromatin interaction
ENSG00000238494	Chromatin interaction
ENSG00000140259	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16941208	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16963757	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16976783	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
9	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
10	nsv1036318	chr15:44053617-44160773	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	68 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44083800-44086800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:44084600-44086600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr15:44084600-44087400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
4	chr15:44085200-44086600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:44085200-44087000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:44085200-44088000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:44085200-44088000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
8	chr15:44085400-44087000	Transcr. at gene 5' and 3'	Osteobl	bone
9	chr15:44085400-44087800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:44085400-44087800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:44085600-44086600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:44085600-44086600	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
13	chr15:44085600-44086600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
14	chr15:44085600-44086600	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
15	chr15:44085600-44086800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
16	chr15:44085600-44086800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:44085600-44086800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
18	chr15:44085600-44086800	Transcr. at gene 5' and 3'	HepG2	liver
19	chr15:44085600-44086800	Transcr. at gene 5' and 3'	NHLF	lung
20	chr15:44085600-44087000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:44085600-44087000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
22	chr15:44085600-44087000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
23	chr15:44085600-44087000	Transcr. at gene 5' and 3'	NH-A	brain
24	chr15:44085600-44088000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:44085600-44088000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:44085600-44088000	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr15:44085600-44089600	Genic enhancers	Spleen	Spleen
28	chr15:44085800-44086600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
29	chr15:44085800-44086600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
30	chr15:44085800-44087000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
31	chr15:44085800-44087000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
32	chr15:44085800-44087000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:44085800-44087000	Genic enhancers	Fetal Lung	lung
34	chr15:44085800-44087000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
35	chr15:44085800-44087000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
36	chr15:44085800-44087000	Transcr. at gene 5' and 3'	Hela-S3	cervix
37	chr15:44085800-44087200	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:44085800-44087200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:44085800-44087200	Genic enhancers	Fetal Thymus	thymus
40	chr15:44085800-44087200	Transcr. at gene 5' and 3'	Right Ventricle	heart
41	chr15:44085800-44087200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
42	chr15:44085800-44087400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr15:44085800-44087400	Genic enhancers	Primary monocytes fromperipheralblood	blood
44	chr15:44085800-44087800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:44085800-44088000	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr15:44085800-44088000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:44085800-44088000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:44085800-44088000	Genic enhancers	Left Ventricle	heart
49	chr15:44085800-44088000	Genic enhancers	Ovary	ovary
50	chr15:44085800-44088200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood

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