Variant report

Variant	rs7735738
Chromosome Location	chr5:112459637-112459638
allele	A/C
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	CTCF	chr5:112459279-112459698	MCF-7	breast:	n/a	chr5:112459454-112459475 chr5:112459452-112459470 chr5:112459453-112459469
2	RAD21	chr5:112459284-112459644	H1-hESC	embryonic stem cell:	n/a	chr5:112459453-112459472
3	CTCF	chr5:112459190-112459746	HCT-116	colon:	n/a	chr5:112459454-112459475 chr5:112459452-112459470 chr5:112459453-112459469
4	CTCF	chr5:112459282-112459664	H1-hESC	embryonic stem cell:	n/a	chr5:112459454-112459475 chr5:112459452-112459470 chr5:112459453-112459469
5	RAD21	chr5:112459157-112459722	HCT-116	colon:	n/a	chr5:112459453-112459472
6	RAD21	chr5:112459218-112459679	H1-hESC	embryonic stem cell:	n/a	chr5:112459453-112459472
7	ZNF143	chr5:112459322-112459652	H1-hESC	embryonic stem cell:	n/a	chr5:112459618-112459637 chr5:112459619-112459634
8	RAD21	chr5:112459254-112459671	SK-N-SH_RA	brain:	n/a	chr5:112459453-112459472
9	RAD21	chr5:112459210-112460453	SK-N-SH	brain:	n/a	chr5:112459453-112459472
10	RAD21	chr5:112459162-112459728	H1-hESC	embryonic stem cell:	n/a	chr5:112459453-112459472
11	RAD21	chr5:112459226-112459662	ECC-1	luminal epithelium:	n/a	chr5:112459453-112459472
12	CTCF	chr5:112459296-112459643	MCF-7	breast:	n/a	chr5:112459454-112459475 chr5:112459452-112459470 chr5:112459453-112459469
13	CTCF	chr5:112459520-112459670	HCM	heart:	n/a	n/a
14	RAD21	chr5:112459227-112459780	HCT-116	colon:	n/a	chr5:112459453-112459472
15	RAD21	chr5:112459210-112459659	MCF-7	breast:	n/a	chr5:112459453-112459472
16	CTCF	chr5:112459500-112459650	HAc	cerebellar:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112459188..112459763-chr5:112527052..112527906,2	MCF-7	breast:

Variant related genes	Relation type
MCC	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10478111	0.86[ASN][1000 genomes]
rs11241194	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs13178451	0.81[JPT][hapmap];0.88[EUR][1000 genomes]
rs13328205	0.92[ASN][1000 genomes]
rs1822490	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1822492	0.84[YRI][hapmap]
rs2044237	0.86[ASN][1000 genomes]
rs4235789	0.81[AMR][1000 genomes]
rs4705790	0.88[ASN][1000 genomes]
rs55690053	0.86[ASN][1000 genomes]
rs55728256	0.86[ASN][1000 genomes]
rs56216225	0.85[ASN][1000 genomes]
rs57044242	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57876684	0.81[AMR][1000 genomes]
rs58169183	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58572166	0.81[AMR][1000 genomes]
rs58986551	0.81[AMR][1000 genomes]
rs59494679	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59915546	0.86[ASN][1000 genomes]
rs60498444	0.81[AMR][1000 genomes]
rs60853585	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61409374	0.86[ASN][1000 genomes]
rs61708522	0.81[AMR][1000 genomes]
rs73239115	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73778948	0.85[ASN][1000 genomes]
rs7701321	1.00[CHB][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7722357	1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7725873	0.86[ASN][1000 genomes]
rs7731284	0.88[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112431200-112461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:112451000-112460600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
4	chr5:112453800-112461800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:112454600-112460600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:112454800-112460400	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:112454800-112460600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:112455000-112460000	Weak transcription	Fetal Brain Male	brain
9	chr5:112455000-112462200	Enhancers	Fetal Heart	heart
10	chr5:112455400-112460200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:112455400-112461400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:112455400-112461400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:112455600-112460000	Weak transcription	Fetal Lung	lung
14	chr5:112456200-112459800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:112456600-112460000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:112456600-112467200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:112457200-112460400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:112457200-112460400	Weak transcription	Ovary	ovary
19	chr5:112457400-112462000	Enhancers	Adipose Nuclei	Adipose
20	chr5:112458400-112459800	Enhancers	Right Atrium	heart
21	chr5:112458400-112474200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:112458600-112474000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:112458600-112477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:112458800-112459800	Enhancers	Left Ventricle	heart
25	chr5:112458800-112460000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:112458800-112476600	Weak transcription	NHEK	skin
27	chr5:112459000-112460400	Weak transcription	Osteobl	bone
28	chr5:112459200-112459800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:112459200-112460800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:112459200-112461400	Enhancers	Right Ventricle	heart
31	chr5:112459200-112462000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:112459400-112460400	Weak transcription	Psoas Muscle	Psoas
33	chr5:112459400-112460800	Enhancers	Brain Germinal Matrix	brain
34	chr5:112459400-112460800	Enhancers	Fetal Kidney	kidney
35	chr5:112459400-112461600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:112459400-112461600	Enhancers	Fetal Brain Female	brain
37	chr5:112459400-112468400	Weak transcription	NHDF-Ad	bronchial
38	chr5:112459600-112459800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:112459600-112459800	Enhancers	Colon Smooth Muscle	Colon
40	chr5:112459600-112460000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:112459600-112460200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr5:112459600-112460600	Weak transcription	Fetal Muscle Leg	muscle
43	chr5:112459600-112460600	Weak transcription	Pancreas	Pancrea
44	chr5:112459600-112461800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:112459600-112462200	Enhancers	Liver	Liver
46	chr5:112459600-112462800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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