Variant report

Variant	rs73257784
Chromosome Location	chr14:31606664-31606665
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	GTF3C2	chr14:31606557-31606890	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr14:31606528-31606850	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:31606479-31606919	HepG2	liver:	n/a	n/a
4	SP1	chr14:31606544-31606917	HCT-116	colon:	n/a	n/a
5	RCOR1	chr14:31606549-31606745	Hela-S3	cervix:	n/a	n/a
6	FOS	chr14:31606514-31606816	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr14:31606510-31606983	HCT-116	colon:	n/a	n/a
8	FOS	chr14:31606536-31606772	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr14:31606505-31607120	HepG2	liver:	n/a	n/a
10	FOS	chr14:31606608-31606715	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr14:31606554-31607023	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
HECTD1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs58023664	1.00[AMR][1000 genomes]
rs59788315	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59860266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61622691	1.00[AMR][1000 genomes]
rs73252171	1.00[AMR][1000 genomes]
rs73252178	1.00[AMR][1000 genomes]
rs73252194	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252199	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253818	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253821	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257788	1.00[AMR][1000 genomes]
rs73257794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259613	1.00[AMR][1000 genomes]
rs73259617	0.97[AFR][1000 genomes]
rs9944096	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9944147	0.87[AFR][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	chr14:31573600-31608800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:31573800-31648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:31576800-31623800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:31588000-31623800	Weak transcription	Psoas Muscle	Psoas
16	chr14:31588600-31607600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:31591800-31656400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:31592400-31607200	Weak transcription	Fetal Heart	heart
19	chr14:31593800-31648200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:31594400-31628600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:31594600-31619800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:31595000-31649000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:31595200-31630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:31595800-31610000	Strong transcription	Fetal Thymus	thymus
25	chr14:31597000-31609800	Strong transcription	Primary B cells from cord blood	blood
26	chr14:31597000-31616200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:31597600-31648400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:31598000-31648200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr14:31598200-31609800	Strong transcription	Primary T cells from cord blood	blood
30	chr14:31598200-31633200	Strong transcription	HepG2	liver
31	chr14:31598200-31648000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:31598200-31651200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr14:31598400-31627200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr14:31598400-31633200	Strong transcription	Liver	Liver
35	chr14:31598400-31648000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:31598600-31613600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:31598600-31613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:31598600-31620000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:31598600-31631000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:31598600-31632000	Weak transcription	Fetal Brain Male	brain
41	chr14:31598600-31633000	Weak transcription	Stomach Mucosa	stomach
42	chr14:31598600-31635400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:31598600-31648400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr14:31598600-31648400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:31598600-31648600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr14:31598600-31649000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr14:31598600-31649400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:31598800-31607600	Weak transcription	Colonic Mucosa	Colon
49	chr14:31598800-31608400	Weak transcription	Pancreas	Pancrea
50	chr14:31598800-31615600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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