Variant report

Variant	rs569349269
Chromosome Location	chr3:52092139-52092140
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	MAZ	chr3:52088560-52092528	IMR90	lung:	n/a	chr3:52091334-52091347 chr3:52091339-52091347 chr3:52091535-52091545 chr3:52091336-52091345 chr3:52091336-52091345 chr3:52091331-52091350 chr3:52091335-52091346
2	REST	chr3:52089552-52092345	H1-neurons	neurons:	n/a	chr3:52091575-52091588 chr3:52091918-52091931 chr3:52091489-52091502
3	NRF1	chr3:52090395-52092278	SK-N-SH	brain:	n/a	chr3:52091535-52091544 chr3:52090837-52090851 chr3:52091546-52091555 chr3:52091643-52091657 chr3:52091575-52091584
4	KAP1	chr3:52092132-52092441	U2OS	brain:	n/a	n/a
5	E2F6	chr3:52090674-52092146	H1-hESC	embryonic stem cell:	n/a	chr3:52091635-52091645 chr3:52091822-52091831 chr3:52091442-52091452 chr3:52091638-52091647 chr3:52091523-52091535 chr3:52091495-52091504
6	MTA3	chr3:52091447-52092231	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:52028061..52031321-chr3:52088873..52092735,5	MCF-7	breast:
2	chr3:52091359..52093112-chr3:52104568..52106950,2	K562	blood:
3	chr3:52088485..52093169-chr3:52093699..52100396,11	MCF-7	breast:
4	chr3:52015921..52019600-chr3:52088214..52092499,4	K562	blood:

Variant related genes	Relation type
DUSP7	TF binding region
ENSG00000256097	Chromatin interaction
ENSG00000114779	Chromatin interaction
ENSG00000162244	Chromatin interaction
ENSG00000243989	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
9	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	esv1797189	chr3:52070955-52101799	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	esv1798365	chr3:52070955-52101799	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv590282	chr3:52088204-52097060	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv1836489	chr3:52089837-52101799	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	esv1838771	chr3:52089837-52101799	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv590293	chr3:52089889-52097060	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv590299	chr3:52090344-52096432	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv590300	chr3:52090597-52096432	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52090600-52092200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:52090600-52092200	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr3:52090800-52092200	Flanking Active TSS	Fetal Muscle Trunk	muscle
4	chr3:52091200-52092400	Enhancers	Fetal Heart	heart
5	chr3:52091200-52092600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:52091200-52092800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:52091400-52092400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:52091400-52092400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:52091400-52092600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:52091600-52092200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:52091600-52092200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:52091600-52092200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr3:52091600-52092200	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr3:52091600-52092200	Enhancers	Spleen	Spleen
15	chr3:52091600-52092200	Flanking Active TSS	NHEK	skin
16	chr3:52091600-52092400	Flanking Active TSS	Hela-S3	cervix
17	chr3:52091600-52092400	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr3:52091800-52092200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:52091800-52092200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr3:52091800-52092200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:52091800-52092200	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr3:52091800-52092200	Enhancers	Fetal Brain Male	brain
23	chr3:52091800-52092200	Flanking Active TSS	Fetal Brain Female	brain
24	chr3:52091800-52092200	Enhancers	Gastric	stomach
25	chr3:52091800-52092200	Enhancers	Lung	lung
26	chr3:52091800-52092200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr3:52091800-52092200	Enhancers	Right Ventricle	heart
28	chr3:52091800-52092200	Enhancers	Small Intestine	intestine
29	chr3:52091800-52092200	Enhancers	NHLF	lung
30	chr3:52091800-52092400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:52091800-52092400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr3:52091800-52092600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:52091800-52101800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:52091800-52106000	Enhancers	Esophagus	oesophagus
35	chr3:52092000-52092200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr3:52092000-52092200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr3:52092000-52092200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:52092000-52092200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr3:52092000-52092200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
40	chr3:52092000-52092200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:52092000-52092200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr3:52092000-52092200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:52092000-52092200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr3:52092000-52092200	Enhancers	Primary B cells from cord blood	blood
45	chr3:52092000-52092200	Enhancers	Primary T cells from cord blood	blood
46	chr3:52092000-52092200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr3:52092000-52092200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:52092000-52092200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr3:52092000-52092200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr3:52092000-52092200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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