Variant report

Variant	rs73257788
Chromosome Location	chr14:31611623-31611624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr14:31611499-31612183	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr14:31611555-31612265	ECC-1	luminal epithelium:	n/a	n/a
3	TEAD4	chr14:31611610-31612143	ECC-1	luminal epithelium:	n/a	n/a
4	TCF12	chr14:31611531-31612278	ECC-1	luminal epithelium:	n/a	n/a
5	NFIC	chr14:31611474-31612199	ECC-1	luminal epithelium:	n/a	n/a
6	TEAD4	chr14:31611522-31612181	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr14:31611584-31612224	ECC-1	luminal epithelium:	n/a	n/a
8	EP300	chr14:31611605-31612241	ECC-1	luminal epithelium:	n/a	n/a
9	CEBPB	chr14:31611571-31612110	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31590905..31593026-chr14:31610871..31613579,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-541P	TF binding region
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs58023664	1.00[AMR][1000 genomes]
rs59788315	1.00[AMR][1000 genomes]
rs59860266	1.00[AMR][1000 genomes]
rs61622691	1.00[AMR][1000 genomes]
rs73252171	1.00[AMR][1000 genomes]
rs73252178	1.00[AMR][1000 genomes]
rs73252194	1.00[AMR][1000 genomes]
rs73252199	1.00[AMR][1000 genomes]
rs73253818	1.00[AMR][1000 genomes]
rs73253821	1.00[AMR][1000 genomes]
rs73257773	1.00[AMR][1000 genomes]
rs73257782	1.00[AMR][1000 genomes]
rs73257784	1.00[AMR][1000 genomes]
rs73257785	1.00[AMR][1000 genomes]
rs73257794	1.00[AMR][1000 genomes]
rs73257797	1.00[AMR][1000 genomes]
rs73259613	1.00[AMR][1000 genomes]
rs9944096	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv901588	chr14:31595666-31639111	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3345810	chr14:31599017-31622767	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31563800-31650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:31564800-31648600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:31566000-31627400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:31566200-31627000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:31566200-31635200	Strong transcription	Placenta	Placenta
7	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:31567000-31620200	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:31567000-31647600	Strong transcription	Duodenum Mucosa	Duodenum
10	chr14:31567000-31651200	Strong transcription	Dnd41	blood
11	chr14:31573000-31650200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:31573800-31648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:31576800-31623800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:31588000-31623800	Weak transcription	Psoas Muscle	Psoas
15	chr14:31591800-31656400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:31593800-31648200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:31594400-31628600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:31594600-31619800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:31595000-31649000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:31595200-31630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:31597000-31616200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:31597600-31648400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:31598000-31648200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr14:31598200-31633200	Strong transcription	HepG2	liver
25	chr14:31598200-31648000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:31598200-31651200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr14:31598400-31627200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr14:31598400-31633200	Strong transcription	Liver	Liver
29	chr14:31598400-31648000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:31598600-31613600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:31598600-31613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:31598600-31620000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:31598600-31631000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:31598600-31632000	Weak transcription	Fetal Brain Male	brain
35	chr14:31598600-31633000	Weak transcription	Stomach Mucosa	stomach
36	chr14:31598600-31635400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr14:31598600-31648400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr14:31598600-31648400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:31598600-31648600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr14:31598600-31649000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr14:31598600-31649400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:31598800-31615600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:31598800-31633200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr14:31599600-31616200	Strong transcription	NHDF-Ad	bronchial
45	chr14:31599800-31616400	Strong transcription	Adipose Nuclei	Adipose
46	chr14:31600200-31616800	Strong transcription	GM12878-XiMat	blood
47	chr14:31600600-31616400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:31600600-31634400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:31600600-31649800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr14:31600800-31623600	Strong transcription	Osteobl	bone

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