Variant report

Variant	rs8038956
Chromosome Location	chr15:82556057-82556058
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	RCOR1	chr15:82555719-82556058	HepG2	liver:	n/a	n/a
2	MXI1	chr15:82553678-82556137	SK-N-SH	brain:	n/a	chr15:82555149-82555164 chr15:82555151-82555166
3	HDAC2	chr15:82555698-82556080	MCF-7	breast:	n/a	chr15:82555909-82555918
4	SIN3AK20	chr15:82555588-82556237	MCF-7	breast:	n/a	n/a
5	GATA3	chr15:82555658-82556117	MCF-7	breast:	n/a	n/a
6	EP300	chr15:82555649-82556114	HepG2	liver:	n/a	chr15:82555957-82555967 chr15:82555676-82555690 chr15:82555908-82555918
7	FOXA1	chr15:82555663-82556185	HepG2	liver:	n/a	chr15:82555907-82555922
8	MBD4	chr15:82555656-82556127	HepG2	liver:	n/a	n/a
9	MAZ	chr15:82555784-82556327	HepG2	liver:	n/a	n/a
10	MYBL2	chr15:82555599-82556153	HepG2	liver:	n/a	n/a
11	FOXA1	chr15:82555694-82556077	T-47D	breast:	n/a	chr15:82555907-82555922
12	FOXA1	chr15:82555593-82556167	HepG2	liver:	n/a	chr15:82555907-82555922
13	HDAC2	chr15:82555787-82556070	HepG2	liver:	n/a	chr15:82555909-82555918
14	FOXA1	chr15:82555658-82556266	HepG2	liver:	n/a	chr15:82555907-82555922 chr15:82556214-82556226
15	MXI1	chr15:82555700-82556096	HepG2	liver:	n/a	n/a
16	FOXA2	chr15:82555612-82556241	A549	lung:	n/a	chr15:82556214-82556226
17	FOXA2	chr15:82554749-82556595	HepG2	liver:	n/a	chr15:82556214-82556226
18	JUND	chr15:82555721-82556076	HepG2	liver:	n/a	chr15:82555814-82555825
19	CEBPB	chr15:82555738-82556072	HepG2	liver:	n/a	n/a
20	ARID3A	chr15:82555714-82556193	HepG2	liver:	n/a	n/a
21	FOXA2	chr15:82555572-82556161	A549	lung:	n/a	n/a
22	TEAD4	chr15:82555624-82556131	HepG2	liver:	n/a	n/a
23	FOXA2	chr15:82555647-82556097	HepG2	liver:	n/a	n/a
24	HDAC2	chr15:82555702-82556074	HepG2	liver:	n/a	chr15:82555909-82555918
25	NFIC	chr15:82555669-82556146	HepG2	liver:	n/a	n/a
26	TCF12	chr15:82555643-82556183	A549	lung:	n/a	n/a
27	EP300	chr15:82555627-82556098	HepG2	liver:	n/a	chr15:82555957-82555967 chr15:82555676-82555690 chr15:82555908-82555918
28	FOXA1	chr15:82555527-82556299	HepG2	liver:	n/a	chr15:82555907-82555922 chr15:82556214-82556226
29	MYBL2	chr15:82555645-82556095	HepG2	liver:	n/a	n/a
30	NR2F2	chr15:82555595-82556170	HepG2	liver:	n/a	n/a
31	JUND	chr15:82555760-82556201	MCF-7	breast:	n/a	chr15:82555814-82555825
32	SP1	chr15:82555692-82556112	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
EFTUD1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28405729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28474792	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28627340	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28729156	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3973875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4537987	1.00[AMR][1000 genomes]
rs9920466	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv457212	chr15:82454283-82573255	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv570243	chr15:82454283-82573255	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv457213	chr15:82456227-82573255	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv570244	chr15:82456227-82573255	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv570245	chr15:82456227-82591082	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1041040	chr15:82465124-82606410	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1801737	chr15:82468455-82589044	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv570246	chr15:82485707-82581264	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1041506	chr15:82496164-82581427	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1798145	chr15:82506790-82581264	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv904440	chr15:82524544-82591082	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv904441	chr15:82532963-82580736	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv904442	chr15:82540174-82571046	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1054025	chr15:82540486-83058214	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	nsv904443	chr15:82553472-82571780	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82552400-82556800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:82553800-82556200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:82555400-82565400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:82555800-82556200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr15:82555800-82556200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:82555800-82556200	Flanking Active TSS	K562	blood
7	chr15:82555800-82556800	Enhancers	Liver	Liver
8	chr15:82555800-82558800	Weak transcription	Primary T cells from cord blood	blood
9	chr15:82555800-82558800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:82555800-82559400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:82555800-82560200	Weak transcription	Thymus	Thymus
12	chr15:82555800-82561200	Weak transcription	Fetal Thymus	thymus
13	chr15:82555800-82566400	Weak transcription	Ovary	ovary
14	chr15:82556000-82556200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr15:82556000-82556200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:82556000-82556200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:82556000-82556200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:82556000-82556200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:82556000-82556200	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr15:82556000-82556200	Enhancers	Stomach Smooth Muscle	stomach
21	chr15:82556000-82556200	Enhancers	A549	lung
22	chr15:82556000-82556200	Enhancers	Hela-S3	cervix
23	chr15:82556000-82556200	Flanking Active TSS	HepG2	liver
24	chr15:82556000-82556400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:82556000-82556800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr15:82556000-82557000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:82556000-82558200	Weak transcription	Fetal Stomach	stomach
28	chr15:82556000-82558400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:82556000-82558400	Weak transcription	Primary B cells from cord blood	blood
30	chr15:82556000-82558400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr15:82556000-82558600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr15:82556000-82558600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:82556000-82558600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:82556000-82558600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr15:82556000-82558600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr15:82556000-82558600	Weak transcription	Fetal Heart	heart
37	chr15:82556000-82558600	Weak transcription	GM12878-XiMat	blood
38	chr15:82556000-82558600	Weak transcription	HUVEC	blood vessel
39	chr15:82556000-82558800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:82556000-82558800	Weak transcription	Stomach Mucosa	stomach
41	chr15:82556000-82558800	Weak transcription	NHEK	skin
42	chr15:82556000-82559400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr15:82556000-82559400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:82556000-82559600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:82556000-82559600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:82556000-82559600	Weak transcription	HMEC	breast
47	chr15:82556000-82560800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:82556000-82561000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr15:82556000-82561200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:82556000-82561400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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