Variant report

Variant	rs3784568
Chromosome Location	chr15:44847415-44847416
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	GATA3	chr15:44847344-44848072	SK-N-SH	brain:	n/a	chr15:44847681-44847691 chr15:44847681-44847689 chr15:44847682-44847689 chr15:44847682-44847691
2	POLR2A	chr15:44847378-44847924	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr15:44847038-44847905	K562	blood:	n/a	n/a
4	GATA2	chr15:44847205-44847931	SH-SY5Y	brain:	n/a	chr15:44847681-44847691 chr15:44847293-44847303 chr15:44847330-44847338 chr15:44847682-44847689 chr15:44847328-44847341 chr15:44847677-44847691 chr15:44847682-44847691
5	MYC	chr15:44847351-44847651	K562	blood:	n/a	n/a
6	POLR2A	chr15:44847169-44847420	Hela-S3	cervix:	n/a	n/a
7	GATA3	chr15:44847355-44848046	SK-N-SH	brain:	n/a	chr15:44847681-44847691 chr15:44847681-44847689 chr15:44847682-44847689 chr15:44847682-44847691
8	POLR2A	chr15:44847184-44847453	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:44847359-44847416	MCF-7	breast:	n/a	n/a
10	POLR2A	chr15:44847180-44847918	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:44843060..44845487-chr15:44846368..44848756,2	MCF-7	breast:
2	chr15:44846922..44848532-chr15:44859953..44861559,2	K562	blood:
3	chr15:44846161..44848847-chr15:44863413..44865479,2	MCF-7	breast:

Variant related genes	Relation type
EIF3J	TF binding region
ENSG00000259659	TF binding region
ENSG00000104133	Chromatin interaction
ENSG00000104131	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16964045	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs2288340	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2291647	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2412884	1.00[ASN][1000 genomes]
rs3752690	0.88[JPT][hapmap]
rs7170216	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7172726	0.95[ASN][1000 genomes]
rs7173921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7175978	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7176018	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8027065	1.00[ASW][hapmap]
rs8028262	1.00[AFR][1000 genomes]
rs8037681	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8041448	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 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	chr15:44830400-44848600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:44830400-44850200	Weak transcription	Aorta	Aorta
3	chr15:44830400-44855200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:44830400-44855200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:44831000-44856800	Weak transcription	Fetal Brain Male	brain
6	chr15:44833800-44857200	Weak transcription	Small Intestine	intestine
7	chr15:44838400-44857200	Weak transcription	Stomach Mucosa	stomach
8	chr15:44838800-44849400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:44840000-44856000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:44840200-44858000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr15:44840600-44855600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:44840600-44857000	Strong transcription	Hela-S3	cervix
13	chr15:44842000-44951600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr15:44842400-44856600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:44842400-44857400	Weak transcription	Right Atrium	heart
16	chr15:44842800-44855800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:44842800-44856400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:44842800-44857000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:44843000-44856600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr15:44843000-44857200	Strong transcription	NH-A	brain
21	chr15:44843200-44850000	Strong transcription	NHEK	skin
22	chr15:44843200-44855200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:44843200-44856200	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr15:44843200-44857000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:44843200-44857000	Strong transcription	Dnd41	blood
26	chr15:44843200-44857400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:44843200-44857400	Strong transcription	Liver	Liver
28	chr15:44843200-44857400	Strong transcription	Fetal Intestine Large	intestine
29	chr15:44843200-44857600	Strong transcription	Adipose Nuclei	Adipose
30	chr15:44843200-44867800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:44843200-44868000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:44843400-44848000	Strong transcription	A549	lung
33	chr15:44843400-44856400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr15:44843400-44856600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:44843400-44856800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:44843600-44856200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:44843600-44866000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:44843800-44853800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:44843800-44857000	Strong transcription	Primary B cells from cord blood	blood
40	chr15:44843800-44857000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:44843800-44857000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:44843800-44857200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr15:44843800-44857400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr15:44843800-44867600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr15:44844000-44851400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:44844000-44852600	Strong transcription	Fetal Intestine Small	intestine
47	chr15:44844000-44852600	Strong transcription	Fetal Stomach	stomach
48	chr15:44844000-44853800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:44844000-44853800	Strong transcription	Left Ventricle	heart
50	chr15:44844000-44857200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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