Variant report

Variant	rs2364932
Chromosome Location	chr5:36607650-36607651
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	chr5:36606452-36607718	Hela-S3	cervix:	n/a	chr5:36607027-36607037
2	GTF3C2	chr5:36606189-36607710	Hela-S3	cervix:	n/a	n/a
3	MYC	chr5:36606294-36608545	MCF10A-Er-Src	breast:	n/a	chr5:36608255-36608266 chr5:36608257-36608266 chr5:36608247-36608263 chr5:36606708-36606718 chr5:36608252-36608267
4	MAX	chr5:36606284-36607697	HCT-116	colon:	n/a	chr5:36606708-36606718
5	STAT3	chr5:36605865-36607753	MCF10A-Er-Src	breast:	n/a	chr5:36606360-36606368 chr5:36607440-36607448 chr5:36606626-36606637 chr5:36606641-36606653
6	SMARCC1	chr5:36606330-36607700	Hela-S3	cervix:	n/a	chr5:36607537-36607546
7	MAX	chr5:36606419-36607664	ECC-1	luminal epithelium:	n/a	chr5:36606708-36606718
8	MXI1	chr5:36606408-36608431	Hela-S3	cervix:	n/a	chr5:36608257-36608266
9	SMARCC2	chr5:36606487-36607851	Hela-S3	cervix:	n/a	chr5:36607537-36607546
10	POLR2A	chr5:36606300-36607698	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr5:36606309-36607740	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr5:36606395-36608414	Hela-S3	cervix:	n/a	n/a
13	STAT3	chr5:36607209-36607763	MCF10A-Er-Src	breast:	n/a	chr5:36607440-36607448
14	RFX5	chr5:36606478-36607706	Hela-S3	cervix:	n/a	n/a
15	NFIC	chr5:36607128-36607658	ECC-1	luminal epithelium:	n/a	n/a
16	TBP	chr5:36606413-36607703	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:
2	chr17:74733057..74733878-chr5:36606716..36607710,2	Hela-S3	cervix:

Variant related genes	Relation type
SLC1A3	TF binding region
ENSG00000092931	Chromatin interaction
ENSG00000161547	Chromatin interaction
ENSG00000079215	Chromatin interaction

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

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

rs_ID	r²[population]
rs1428973	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562582	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729389	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9292636	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv881025	chr5:36575021-36613053	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	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
4	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36604800-36612000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:36605400-36608200	Active TSS	NHDF-Ad	bronchial
3	chr5:36605400-36608400	Active TSS	Brain Anterior Caudate	brain
4	chr5:36605400-36612800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:36605600-36608600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:36605600-36609800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:36605600-36609800	Active TSS	Brain Hippocampus Middle	brain
8	chr5:36605800-36607800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:36605800-36608000	Active TSS	Fetal Muscle Leg	muscle
10	chr5:36605800-36608200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:36605800-36608200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:36605800-36608600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr5:36605800-36611200	Active TSS	Right Atrium	heart
14	chr5:36606000-36607800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:36606000-36607800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:36606000-36607800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
17	chr5:36606000-36607800	Active TSS	Stomach Smooth Muscle	stomach
18	chr5:36606000-36607800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
19	chr5:36606000-36607800	Active TSS	NHLF	lung
20	chr5:36606000-36608000	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr5:36606000-36608200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr5:36606000-36608200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:36606000-36608200	Active TSS	Brain Angular Gyrus	brain
24	chr5:36606000-36608200	Active TSS	Placenta	Placenta
25	chr5:36606000-36608200	Active TSS	Ovary	ovary
26	chr5:36606000-36608200	Active TSS	HSMMtube	muscle
27	chr5:36606000-36608400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr5:36606000-36608400	Bivalent/Poised TSS	Fetal Lung	lung
29	chr5:36606000-36609200	Active TSS	Brain Substantia Nigra	brain
30	chr5:36606000-36609200	Active TSS	Fetal Heart	heart
31	chr5:36606000-36609200	Active TSS	Psoas Muscle	Psoas
32	chr5:36606000-36609400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:36606000-36610400	Active TSS	Right Ventricle	heart
34	chr5:36606200-36607800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:36606200-36607800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:36606200-36607800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr5:36606200-36607800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:36606200-36607800	Active TSS	Aorta	Aorta
39	chr5:36606200-36607800	Active TSS	Colon Smooth Muscle	Colon
40	chr5:36606200-36607800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
41	chr5:36606200-36607800	Active TSS	Rectal Smooth Muscle	rectum
42	chr5:36606200-36608000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:36606200-36608000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:36606200-36608000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:36606200-36608000	Active TSS	Adipose Nuclei	Adipose
46	chr5:36606200-36608000	Active TSS	HMEC	breast
47	chr5:36606200-36608000	Active TSS	NHEK	skin
48	chr5:36606200-36608000	Active TSS	Osteobl	bone
49	chr5:36606200-36608200	Active TSS	H1 Cell Line	embryonic stem cell
50	chr5:36606200-36608200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum

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