Variant report

Variant	rs494774
Chromosome Location	chr15:44147105-44147106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr15:44147046-44147244	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr15:44146654-44147263	HepG2	liver:	n/a	n/a
3	FOS	chr15:44147044-44147360	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr15:44147085-44147285	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr15:44147098-44147231	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr15:44147008-44147367	IMR90	lung:	n/a	n/a
7	FOS	chr15:44147065-44147355	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr15:44146912-44147175	K562	blood:	n/a	n/a
9	CEBPB	chr15:44146591-44147274	K562	blood:	n/a	n/a
10	CEBPB	chr15:44147028-44147251	K562	blood:	n/a	n/a
11	CEBPB	chr15:44146645-44147302	A549	lung:	n/a	n/a
12	CEBPB	chr15:44146585-44147402	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
WDR76	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2059625	1.00[EUR][1000 genomes]
rs2447200	1.00[EUR][1000 genomes]
rs2447214	1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs2733225	1.00[EUR][1000 genomes]
rs28537381	1.00[EUR][1000 genomes]
rs2899104	1.00[EUR][1000 genomes]
rs2929276	1.00[EUR][1000 genomes]
rs2930527	1.00[EUR][1000 genomes]
rs2930532	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2930534	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35093130	1.00[EUR][1000 genomes]
rs475758	0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs482124	1.00[EUR][1000 genomes]
rs483165	1.00[EUR][1000 genomes]
rs4923965	0.83[YRI][hapmap]
rs4924721	1.00[EUR][1000 genomes]
rs559805	1.00[EUR][1000 genomes]
rs56329224	1.00[EUR][1000 genomes]
rs612258	1.00[EUR][1000 genomes]
rs654276	0.86[YRI][hapmap]
rs656473	1.00[EUR][1000 genomes]
rs7171948	1.00[EUR][1000 genomes]
rs893612	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1050263	chr15:44093927-44204047	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
10	nsv511550	chr15:44120559-44148142	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
11	nsv569277	chr15:44137753-44147265	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44117400-44150200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:44119600-44150600	Weak transcription	Esophagus	oesophagus
3	chr15:44119600-44151000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:44119600-44156400	Weak transcription	Pancreas	Pancrea
5	chr15:44119600-44166000	Weak transcription	Spleen	Spleen
6	chr15:44119600-44169400	Weak transcription	Fetal Intestine Large	intestine
7	chr15:44119600-44172800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:44119600-44181800	Weak transcription	Small Intestine	intestine
9	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:44119800-44166400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:44120200-44150800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:44120600-44149200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr15:44120600-44150800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:44120600-44150800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr15:44120600-44156600	Weak transcription	Fetal Brain Male	brain
16	chr15:44120600-44157800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:44120600-44158600	Weak transcription	Colonic Mucosa	Colon
18	chr15:44120600-44159600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:44120600-44161200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:44120600-44164600	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:44120600-44164600	Weak transcription	NHEK	skin
22	chr15:44120600-44165800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:44121000-44177600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:44121400-44159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr15:44121400-44160600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:44121600-44150800	Weak transcription	Fetal Heart	heart
27	chr15:44121600-44151200	Weak transcription	NHLF	lung
28	chr15:44122000-44157000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr15:44124000-44166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:44124600-44150800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:44128200-44151800	Weak transcription	Fetal Lung	lung
32	chr15:44128200-44151800	Weak transcription	Left Ventricle	heart
33	chr15:44128200-44167800	Weak transcription	Ovary	ovary
34	chr15:44128400-44150800	Weak transcription	Adipose Nuclei	Adipose
35	chr15:44128600-44167800	Weak transcription	Colon Smooth Muscle	Colon
36	chr15:44129200-44161200	Weak transcription	Brain Substantia Nigra	brain
37	chr15:44129800-44150800	Weak transcription	Primary B cells from cord blood	blood
38	chr15:44131200-44167600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:44132600-44147200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:44133000-44166000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr15:44135400-44157800	Weak transcription	Fetal Kidney	kidney
42	chr15:44135600-44150800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:44136400-44148200	Weak transcription	NHDF-Ad	bronchial
44	chr15:44136800-44152200	Weak transcription	Lung	lung
45	chr15:44137800-44149800	Strong transcription	Dnd41	blood
46	chr15:44137800-44160200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:44142200-44163800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:44142200-44164600	Weak transcription	Brain Angular Gyrus	brain
49	chr15:44142800-44147200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:44142800-44154000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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