Variant report

Variant	rs4887122
Chromosome Location	chr15:74035248-74035249
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	NR2F2	chr15:74034740-74035931	MCF-7	breast:	n/a	n/a
2	SIN3AK20	chr15:74034468-74036009	MCF-7	breast:	n/a	n/a
3	ZNF217	chr15:74035133-74035526	MCF-7	breast:	n/a	n/a
4	HDAC2	chr15:74035126-74035688	MCF-7	breast:	n/a	n/a
5	TCF7L2	chr15:74035192-74035326	Hela-S3	cervix:	n/a	n/a
6	MAX	chr15:74034857-74035761	Hela-S3	cervix:	n/a	chr15:74035450-74035460
7	TFAP2A	chr15:74035101-74035778	Hela-S3	cervix:	n/a	chr15:74035578-74035588 chr15:74035445-74035456 chr15:74035440-74035455 chr15:74035445-74035456 chr15:74035578-74035588 chr15:74035441-74035456 chr15:74035445-74035456 chr15:74035445-74035457 chr15:74035578-74035588 chr15:74035445-74035456 chr15:74035578-74035588
8	TCF7L2	chr15:74035190-74035496	MCF-7	breast:	n/a	n/a
9	GATA3	chr15:74034443-74035679	MCF-7	breast:	n/a	chr15:74035011-74035024
10	TFAP2C	chr15:74035084-74035755	Hela-S3	cervix:	n/a	chr15:74035443-74035458
11	GATA3	chr15:74034554-74035840	MCF-7	breast:	n/a	chr15:74035011-74035024

No.	Distal block	Cell Line	Cell type
1	chr15:74002347..74003098-chr15:74034906..74035966,3	MCF-7	breast:
2	chr15:74002181..74003130-chr15:74035048..74036007,13	MCF-7	breast:
3	chr15:74002150..74003130-chr15:74034989..74036028,29	MCF-7	breast:

Variant related genes	Relation type
C15orf59	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11630531	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12914566	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1382420	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1548099	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16958177	0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.85[ASN][1000 genomes]
rs16958181	0.86[ASN][1000 genomes]
rs16958188	0.84[ASN][1000 genomes]
rs4887140	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs4887141	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7402796	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8024213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8182008	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs896598	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471252	chr15:74006691-74089793	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv569970	chr15:74016622-74059081	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74023600-74036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:74030000-74039200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:74031200-74038600	Weak transcription	Fetal Lung	lung
4	chr15:74031800-74035600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr15:74031800-74036400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:74033000-74035600	Enhancers	Brain Hippocampus Middle	brain
7	chr15:74033000-74035800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:74033000-74035800	Enhancers	Brain Substantia Nigra	brain
9	chr15:74033000-74037400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:74033200-74035800	Enhancers	Right Ventricle	heart
11	chr15:74033200-74035800	Enhancers	Hela-S3	cervix
12	chr15:74033200-74038600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:74033400-74036400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:74033400-74038800	Weak transcription	Fetal Brain Male	brain
15	chr15:74033600-74036000	Enhancers	NHDF-Ad	bronchial
16	chr15:74033800-74035400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:74034000-74038800	Weak transcription	Ovary	ovary
18	chr15:74034200-74038600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:74034400-74038600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:74034400-74038800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:74034600-74035400	Enhancers	Left Ventricle	heart
22	chr15:74034600-74037400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:74034600-74038800	Weak transcription	Brain Angular Gyrus	brain
24	chr15:74034800-74035400	Enhancers	Right Atrium	heart
25	chr15:74034800-74036400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:74034800-74036400	Strong transcription	Brain Germinal Matrix	brain
27	chr15:74035000-74035400	Enhancers	HSMMtube	muscle
28	chr15:74035000-74035600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:74035000-74035600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:74035000-74035600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:74035000-74035600	Enhancers	Esophagus	oesophagus
32	chr15:74035000-74035600	Enhancers	Placenta	Placenta
33	chr15:74035000-74035800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:74035000-74035800	Enhancers	Adipose Nuclei	Adipose
35	chr15:74035000-74035800	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr15:74035000-74035800	Enhancers	Lung	lung
37	chr15:74035000-74035800	Enhancers	Stomach Smooth Muscle	stomach
38	chr15:74035000-74035800	Enhancers	A549	lung
39	chr15:74035000-74036000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr15:74035000-74036400	Weak transcription	Fetal Brain Female	brain
41	chr15:74035000-74036600	Weak transcription	Brain Anterior Caudate	brain
42	chr15:74035000-74038600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:74035000-74043000	Strong transcription	Fetal Stomach	stomach
44	chr15:74035200-74035400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr15:74035200-74035600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:74035200-74035600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:74035200-74035600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr15:74035200-74035600	Enhancers	Duodenum Mucosa	Duodenum
49	chr15:74035200-74035600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr15:74035200-74035600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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