Variant report

Variant	rs7321775
Chromosome Location	chr13:52572601-52572602
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:52564916..52570042-chr13:52571727..52575592,5	MCF-7	breast:
2	chr13:52571069..52573595-chr13:52575661..52577767,2	K562	blood:
3	chr13:52494195..52496775-chr13:52571479..52573811,2	MCF-7	breast:
4	chr13:52566849..52570695-chr13:52572398..52574312,4	K562	blood:
5	chr13:52568982..52573456-chr13:52591589..52596221,4	K562	blood:
6	chr13:52565945..52573624-chr13:52584322..52588378,8	K562	blood:
7	chr13:52571352..52573505-chr13:52585420..52587212,2	MCF-7	breast:
8	chr13:52562562..52567113-chr13:52569338..52572980,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253710	Chromatin interaction
ENSG00000123191	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1055062	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1060631	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11620583	0.81[ASN][1000 genomes]
rs1886538	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1886545	0.80[ASN][1000 genomes]
rs1924611	0.81[ASN][1000 genomes]
rs2005182	0.81[ASN][1000 genomes]
rs2147359	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2147360	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2147361	0.95[ASN][1000 genomes]
rs2277448	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2408546	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2408547	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2408548	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2408554	0.80[ASN][1000 genomes]
rs2897964	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3742289	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3742291	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4261421	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4264295	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4600369	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4941720	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4941723	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61958804	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6561656	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6650384	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6650385	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7318287	0.84[ASN][1000 genomes]
rs7319784	0.90[ASN][1000 genomes]
rs7320252	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7320429	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs732071	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7320831	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7321120	0.90[ASN][1000 genomes]
rs7321310	0.90[ASN][1000 genomes]
rs7321435	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7332272	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7338131	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7994928	0.80[ASN][1000 genomes]
rs7998770	0.80[ASN][1000 genomes]
rs9526817	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9526819	0.81[ASN][1000 genomes]
rs9526823	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9526825	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9526826	0.84[ASN][1000 genomes]
rs9526834	0.83[ASN][1000 genomes]
rs9535813	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9535816	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535819	0.81[ASN][1000 genomes]
rs9535821	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535822	0.81[ASN][1000 genomes]
rs9535823	0.80[ASN][1000 genomes]
rs9535824	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535825	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535826	0.81[ASN][1000 genomes]
rs9535845	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9568682	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568684	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568692	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv1041996	chr13:52544805-52581501	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
6	esv2763022	chr13:52544978-52581513	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
7	nsv900082	chr13:52555288-52709938	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52569200-52575600	Enhancers	Stomach Mucosa	stomach
2	chr13:52569400-52574400	Enhancers	Placenta	Placenta
3	chr13:52569400-52574600	Enhancers	Fetal Heart	heart
4	chr13:52569400-52575000	Enhancers	Fetal Muscle Leg	muscle
5	chr13:52569400-52575800	Enhancers	Fetal Intestine Large	intestine
6	chr13:52569800-52573400	Enhancers	Liver	Liver
7	chr13:52570000-52575000	Enhancers	Duodenum Mucosa	Duodenum
8	chr13:52570200-52572800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:52570400-52573600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:52570600-52573200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr13:52570600-52574000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr13:52570600-52575400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:52570800-52573000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr13:52570800-52573200	Weak transcription	Adipose Nuclei	Adipose
15	chr13:52570800-52573200	Weak transcription	Brain Hippocampus Middle	brain
16	chr13:52570800-52573200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr13:52570800-52573200	Weak transcription	Fetal Brain Male	brain
18	chr13:52570800-52573200	Weak transcription	Fetal Stomach	stomach
19	chr13:52570800-52573800	Weak transcription	Brain Anterior Caudate	brain
20	chr13:52570800-52577600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr13:52570800-52585000	Weak transcription	Colonic Mucosa	Colon
22	chr13:52570800-52585200	Weak transcription	Aorta	Aorta
23	chr13:52571000-52573000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:52571000-52573000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr13:52571000-52573000	Weak transcription	Colon Smooth Muscle	Colon
26	chr13:52571000-52573000	Weak transcription	Psoas Muscle	Psoas
27	chr13:52571000-52573000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr13:52571000-52573000	Weak transcription	Right Ventricle	heart
29	chr13:52571000-52573200	Weak transcription	Left Ventricle	heart
30	chr13:52571000-52573200	Weak transcription	HMEC	breast
31	chr13:52571000-52573800	Weak transcription	Lung	lung
32	chr13:52571000-52574200	Weak transcription	Fetal Brain Female	brain
33	chr13:52571000-52583800	Weak transcription	Brain Germinal Matrix	brain
34	chr13:52571200-52572800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:52571200-52573000	Weak transcription	Brain Angular Gyrus	brain
36	chr13:52571400-52574000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:52571600-52573800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr13:52571800-52573200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr13:52571800-52573200	Enhancers	Right Atrium	heart
40	chr13:52571800-52573800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr13:52571800-52573800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr13:52571800-52573800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr13:52571800-52574000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr13:52572000-52573000	Enhancers	Fetal Kidney	kidney
45	chr13:52572000-52573200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr13:52572000-52573400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr13:52572000-52574000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr13:52572000-52575800	Enhancers	Fetal Intestine Small	intestine
49	chr13:52572200-52573400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:52572200-52573600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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