Variant report

Variant	rs7140978
Chromosome Location	chr14:70038136-70038137
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	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	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
3	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
4	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
5	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
6	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: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10145804	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10149246	0.86[CHB][hapmap]
rs1885401	0.85[EUR][1000 genomes]
rs2025132	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2025133	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4899300	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4899301	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4899303	0.83[EUR][1000 genomes]
rs4899304	0.80[CEU][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs4899305	0.87[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4902730	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4902733	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4902734	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902738	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902739	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6573892	0.83[EUR][1000 genomes]
rs6573893	0.94[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573894	0.94[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142221	0.81[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7143193	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7147881	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7494244	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927387	0.87[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs927389	0.83[EUR][1000 genomes]
rs927390	0.85[EUR][1000 genomes]
rs9323528	0.88[ASN][1000 genomes]
rs9788506	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	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:35 , 50 per page) page: 1

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	chr14:70037000-70038200	Weak transcription	Gastric	stomach
5	chr14:70037200-70039600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr14:70037400-70039600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:70037400-70040200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr14:70037600-70039000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70037600-70039600	Bivalent Enhancer	Placenta	Placenta
10	chr14:70037800-70038200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chr14:70037800-70038200	Bivalent Enhancer	Colonic Mucosa	Colon
12	chr14:70037800-70038200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
13	chr14:70037800-70038200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
14	chr14:70037800-70038600	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr14:70037800-70039600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:70037800-70040200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:70037800-70040400	Enhancers	Fetal Brain Male	brain
18	chr14:70038000-70038200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:70038000-70038200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:70038000-70038200	Bivalent Enhancer	Fetal Stomach	stomach
21	chr14:70038000-70038200	Bivalent Enhancer	Ovary	ovary
22	chr14:70038000-70038200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
23	chr14:70038000-70038400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:70038000-70038400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:70038000-70038400	ZNF genes & repeats	Fetal Brain Female	brain
26	chr14:70038000-70038600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:70038000-70038600	Bivalent Enhancer	Colon Smooth Muscle	Colon
28	chr14:70038000-70038600	Enhancers	Pancreas	Pancrea
29	chr14:70038000-70038600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
30	chr14:70038000-70038800	Weak transcription	Hela-S3	cervix
31	chr14:70038000-70039600	Bivalent Enhancer	Fetal Heart	heart
32	chr14:70038000-70040400	Enhancers	Liver	Liver
33	chr14:70038000-70040400	Weak transcription	Brain Angular Gyrus	brain
34	chr14:70038000-70040400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr14:70038000-70040400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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