Variant report

Variant	rs7729389
Chromosome Location	chr5:36613201-36613202
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	POLR2A	chr5:36612912-36613325	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36607368..36609529-chr5:36613052..36615679,2	MCF-7	breast:

Variant related genes	Relation type
SLC1A3	TF binding region
ENSG00000079215	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1428973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2364932	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2562582	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9292636	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2762516	chr5:36599385-36613201	Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36607800-36613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:36608200-36613400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:36608400-36615400	Weak transcription	HSMMtube	muscle
4	chr5:36608400-36617200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:36608600-36617200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:36608800-36613600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:36608800-36614800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:36608800-36639600	Weak transcription	Esophagus	oesophagus
9	chr5:36609000-36614800	Weak transcription	NH-A	brain
10	chr5:36609200-36613800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr5:36609200-36617200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:36609400-36613600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:36609400-36619200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:36609400-36619800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:36609800-36614400	Strong transcription	HMEC	breast
16	chr5:36610000-36613800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:36610000-36614200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:36610000-36617200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:36610400-36613400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:36610400-36613400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:36610400-36613600	Strong transcription	NHEK	skin
22	chr5:36610600-36629800	Weak transcription	NHDF-Ad	bronchial
23	chr5:36610800-36613800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:36611000-36613600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:36611000-36614000	Strong transcription	HSMM	muscle
26	chr5:36611000-36633600	Weak transcription	Brain Germinal Matrix	brain
27	chr5:36611200-36614600	Weak transcription	Psoas Muscle	Psoas
28	chr5:36611200-36630000	Weak transcription	Right Ventricle	heart
29	chr5:36611600-36613800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:36611600-36614000	Strong transcription	Fetal Muscle Leg	muscle
31	chr5:36611600-36614400	Strong transcription	Hela-S3	cervix
32	chr5:36611600-36615000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr5:36611800-36614800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:36612000-36613400	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:36612200-36613400	Weak transcription	Brain Angular Gyrus	brain
36	chr5:36612200-36614800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:36612200-36614800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:36612200-36623400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr5:36612400-36613400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:36612400-36613400	Weak transcription	Fetal Brain Male	brain
41	chr5:36612400-36613800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:36612400-36614400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:36612400-36619200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
44	chr5:36612600-36614000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr5:36612600-36614200	Genic enhancers	Brain Substantia Nigra	brain
46	chr5:36612600-36616800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:36612800-36613400	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr5:36612800-36613400	Genic enhancers	Fetal Heart	heart
49	chr5:36612800-36613600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:36612800-36613600	Genic enhancers	Left Ventricle	heart

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