Variant report

Variant	rs2301064
Chromosome Location	chr5:36675699-36675700
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	MAFK	chr5:36675364-36675727	HepG2	liver:	n/a	chr5:36675506-36675517 chr5:36675507-36675518 chr5:36675538-36675549 chr5:36675539-36675550 chr5:36675505-36675519 chr5:36675537-36675551 chr5:36675538-36675554 chr5:36675538-36675553 chr5:36675506-36675521 chr5:36675507-36675518 chr5:36675539-36675550 chr5:36675538-36675549 chr5:36675506-36675517
2	POLR2A	chr5:36675533-36675731	GM12878	blood:	n/a	n/a
3	MAFF	chr5:36675370-36675701	HepG2	liver:	n/a	chr5:36675536-36675554
4	MAFK	chr5:36675375-36675713	HepG2	liver:	n/a	chr5:36675506-36675517 chr5:36675507-36675518 chr5:36675538-36675549 chr5:36675539-36675550 chr5:36675505-36675519 chr5:36675537-36675551 chr5:36675538-36675554 chr5:36675538-36675553 chr5:36675506-36675521 chr5:36675507-36675518 chr5:36675539-36675550 chr5:36675538-36675549 chr5:36675506-36675517
5	MAFK	chr5:36675371-36675714	IMR90	lung:	n/a	chr5:36675506-36675517 chr5:36675507-36675518 chr5:36675538-36675549 chr5:36675539-36675550 chr5:36675505-36675519 chr5:36675537-36675551 chr5:36675538-36675554 chr5:36675538-36675553 chr5:36675506-36675521 chr5:36675507-36675518 chr5:36675539-36675550 chr5:36675538-36675549 chr5:36675506-36675517

No.	Distal block	Cell Line	Cell type
1	chr5:36675020..36677242-chr5:36677809..36680440,2	MCF-7	breast:
2	chr5:36675450..36677124-chr5:36677149..36680464,3	K562	blood:
3	chr5:36664064..36666093-chr5:36674031..36676428,2	K562	blood:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1001571	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10080178	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473036	1.00[MEX][hapmap]
rs3753180	0.80[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6860851	1.00[MEX][hapmap]
rs6892871	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv969921	chr5:36645147-36696229	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv880571	chr5:36675699-36710205	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36655400-36684200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:36655400-36690000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:36658200-36690000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:36658600-36684000	Weak transcription	Esophagus	oesophagus
5	chr5:36659000-36689400	Weak transcription	Osteobl	bone
6	chr5:36659400-36683400	Weak transcription	NHDF-Ad	bronchial
7	chr5:36662000-36690000	Weak transcription	Psoas Muscle	Psoas
8	chr5:36663000-36689600	Weak transcription	Fetal Brain Female	brain
9	chr5:36666000-36690000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:36667400-36688200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:36667600-36689200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:36668200-36677000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:36668200-36679800	Weak transcription	Fetal Lung	lung
14	chr5:36668200-36690000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:36668400-36685000	Weak transcription	Fetal Intestine Large	intestine
16	chr5:36668400-36689200	Weak transcription	NHEK	skin
17	chr5:36668600-36690000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:36668800-36679600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:36669200-36679200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:36669200-36681400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:36669600-36679200	Weak transcription	Right Ventricle	heart
22	chr5:36670200-36684000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:36670600-36683200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:36670800-36677400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:36671000-36680800	Strong transcription	HSMM	muscle
26	chr5:36671400-36681400	Strong transcription	Adipose Nuclei	Adipose
27	chr5:36671400-36690200	Weak transcription	Pancreas	Pancrea
28	chr5:36672200-36677200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:36673000-36677000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:36673000-36677000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:36673000-36678600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:36673000-36682800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:36673600-36689400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:36673600-36689800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:36673800-36676000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:36673800-36677600	Weak transcription	Brain Angular Gyrus	brain
37	chr5:36673800-36679200	Weak transcription	Left Ventricle	heart
38	chr5:36673800-36679400	Weak transcription	Hela-S3	cervix
39	chr5:36674000-36677200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:36674200-36677000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:36674200-36690000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:36674400-36689400	Weak transcription	HMEC	breast
43	chr5:36674400-36690000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:36674800-36675800	Enhancers	Fetal Muscle Leg	muscle
45	chr5:36674800-36676200	Genic enhancers	Brain Hippocampus Middle	brain
46	chr5:36675000-36677000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr5:36675000-36679800	Weak transcription	Placenta	Placenta
48	chr5:36675000-36681800	Weak transcription	Fetal Heart	heart
49	chr5:36675000-36684400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:36675200-36676000	Strong transcription	Brain Anterior Caudate	brain

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