Variant report

Variant	rs543652765
Chromosome Location	chr14:70038335-70038336
allele	A/G
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	E2F6	chr14:70037838-70041874	H1-hESC	embryonic stem cell:	n/a	chr14:70039917-70039926 chr14:70040055-70040065 chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70039907-70039917 chr14:70038869-70038880 chr14:70041273-70041288 chr14:70041340-70041349 chr14:70039085-70039095
2	POLR2A	chr14:70038277-70038403	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr14:70038151-70039756	A549	lung:	n/a	chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70038869-70038880 chr14:70039085-70039095
4	MAX	chr14:70038055-70039799	H1-hESC	embryonic stem cell:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70039728-70039737 chr14:70038304-70038313 chr14:70038305-70038312
5	E2F6	chr14:70038047-70039768	H1-hESC	embryonic stem cell:	n/a	chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70038869-70038880 chr14:70039085-70039095
6	MAX	chr14:70038248-70039406	H1-hESC	embryonic stem cell:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70038304-70038313 chr14:70038305-70038312
7	NFIC	chr14:70038297-70039637	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr14:70038147-70039969	A549	lung:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70039728-70039737 chr14:70038304-70038313 chr14:70038305-70038312
9	POLR2A	chr14:70038177-70038340	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF12	chr14:70038272-70039602	ECC-1	luminal epithelium:	n/a	chr14:70038848-70038858 chr14:70038849-70038856
11	MAX	chr14:70038034-70039730	H1-hESC	embryonic stem cell:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70038304-70038313 chr14:70038305-70038312
12	MAX	chr14:70038221-70039565	A549	lung:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70038304-70038313 chr14:70038305-70038312
13	MAX	chr14:70038011-70039766	ECC-1	luminal epithelium:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70039728-70039737 chr14:70038304-70038313 chr14:70038305-70038312
14	MAX	chr14:70038054-70039747	ECC-1	luminal epithelium:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70039728-70039737 chr14:70038304-70038313 chr14:70038305-70038312

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70036912..70038706-chr14:70040330..70041890,2	MCF-7	breast:
2	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:

Variant related genes	Relation type
CCDC177	TF binding region
ENSG00000267909	Chromatin interaction
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv564970	chr14:70000399-70040161	Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1825293	chr14:70020620-70039587	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv565003	chr14:70035500-70041193	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	nsv565004	chr14:70035500-70041363	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	nsv1335	chr14:70036126-70062584	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv1824330	chr14:70037611-70042464	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70036600-70039600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:70036600-70040200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:70036800-70038400	Strong transcription	Brain Germinal Matrix	brain
4	chr14:70037200-70039600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr14:70037400-70039600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:70037400-70040200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr14:70037600-70039000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70037600-70039600	Bivalent Enhancer	Placenta	Placenta
9	chr14:70037800-70038600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr14:70037800-70039600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:70037800-70040200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:70037800-70040400	Enhancers	Fetal Brain Male	brain
13	chr14:70038000-70038400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:70038000-70038400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:70038000-70038400	ZNF genes & repeats	Fetal Brain Female	brain
16	chr14:70038000-70038600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:70038000-70038600	Bivalent Enhancer	Colon Smooth Muscle	Colon
18	chr14:70038000-70038600	Enhancers	Pancreas	Pancrea
19	chr14:70038000-70038600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr14:70038000-70038800	Weak transcription	Hela-S3	cervix
21	chr14:70038000-70039600	Bivalent Enhancer	Fetal Heart	heart
22	chr14:70038000-70040400	Enhancers	Liver	Liver
23	chr14:70038000-70040400	Weak transcription	Brain Angular Gyrus	brain
24	chr14:70038000-70040400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr14:70038000-70040400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr14:70038200-70038400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:70038200-70038400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
28	chr14:70038200-70038400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr14:70038200-70038400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr14:70038200-70038400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:70038200-70038400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
32	chr14:70038200-70038400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
33	chr14:70038200-70038400	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr14:70038200-70038400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr14:70038200-70038400	Bivalent Enhancer	Rectal Smooth Muscle	rectum
36	chr14:70038200-70038400	Enhancers	Right Atrium	heart
37	chr14:70038200-70038600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:70038200-70038600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr14:70038200-70038600	Bivalent Enhancer	Esophagus	oesophagus
40	chr14:70038200-70038600	Bivalent Enhancer	Left Ventricle	heart
41	chr14:70038200-70038600	Enhancers	Spleen	Spleen
42	chr14:70038200-70038800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:70038200-70038800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
44	chr14:70038200-70038800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:70038200-70038800	Enhancers	Gastric	stomach
46	chr14:70038200-70038800	Bivalent Enhancer	Lung	lung
47	chr14:70038200-70038800	Flanking Bivalent TSS/Enh	Ovary	ovary
48	chr14:70038200-70039000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr14:70038200-70039000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
50	chr14:70038200-70039000	Bivalent Enhancer	Fetal Lung	lung

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