Variant report

Variant	rs73732371
Chromosome Location	chr5:1932130-1932131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:1931845-1932251	HL-60	blood:	n/a	n/a
2	POLR2A	chr5:1927991-1933825	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:1931852-1932279	HL-60	blood:	n/a	n/a
4	POLR2A	chr5:1928300-1932687	MCF10A-Er-Src	breast:	n/a	n/a
5	BACH1	chr5:1931242-1932154	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:1932098-1932148	AG04449	skin:	fetal
2	chr5:1932098-1932148	RPTEC	kidney:	n/a
3	chr5:1932098-1932148	NH-A	brain:	n/a
4	chr5:1932098-1932148	HIPEpiC	eye:	n/a
5	chr5:1932098-1932148	A549	lung:	n/a
6	chr5:1932098-1932148	SK-N-SH_RA	brain:	n/a
7	chr5:1932098-1932148	SK-N-MC	brain:	n/a
8	chr5:1932098-1932148	BJ	skin:	n/a
9	chr5:1932098-1932148	GM12892	blood:	n/a
10	chr5:1932098-1932148	NT2-D1	testis:	n/a
11	chr5:1932098-1932148	Jurkat	blood:	n/a
12	chr5:1932098-1932148	HCF	heart:	n/a
13	chr5:1932098-1932148	SAEC	small airway:	n/a
14	chr5:1932098-1932148	CMK	blood:	n/a
15	chr5:1932098-1932148	SKMC	muscle:	n/a
16	chr5:1932098-1932148	NHDF-neo	bronchial:	n/a
17	chr5:1932098-1932148	IMR90	lung:	fetal
18	chr5:1932098-1932148	AG09319	gingival:	n/a
19	chr5:1932098-1932148	HRE	kidney:	n/a
20	chr5:1932098-1932148	NHBE	bronchial:	n/a
21	chr5:1932098-1932148	HCM	heart:	n/a
22	chr5:1932098-1932148	GM12891	blood:	n/a
23	chr5:1932098-1932148	BE2_C	brain:	n/a
24	chr5:1932098-1932148	K562	blood:	n/a
25	chr5:1932098-1932148	HPAEpiC	pulmonary alveolar:	n/a
26	chr5:1932098-1932148	HNPCEpiC	eye:	n/a
27	chr5:1932098-1932148	ProgFib	skin:	n/a
28	chr5:1932098-1932148	PANC-1	pancreas:	n/a
29	chr5:1932098-1932148	GM12878	blood:	n/a
30	chr5:1932098-1932148	LNCaP	prostate:	n/a
31	chr5:1932098-1932148	SK-N-SH	brain:	n/a
32	chr5:1932098-1932148	AG04450	lung:	fetal
33	chr5:1932098-1932148	AoSMC	blood vessel:	n/a
34	chr5:1932098-1932148	PFSK-1	brain:	n/a
35	chr5:1932098-1932148	HCT-116	colon:	n/a
36	chr5:1932098-1932148	H1-hESC	embryonic stem cell:	embryo
37	chr5:1932098-1932148	HEEpiC	esophagus:	n/a
38	chr5:1932098-1932148	PrEC	prostate:	n/a
39	chr5:1932098-1932148	HL-60	blood:	n/a
40	chr5:1932098-1932148	HUVEC	blood vessel:	n/a
41	chr5:1932098-1932148	GM19239	blood:	n/a
42	chr5:1932098-1932148	NB4	blood:	n/a
43	chr5:1932098-1932148	ECC-1	luminal epithelium:	n/a
44	chr5:1932098-1932148	HepG2	liver:	n/a
45	chr5:1932098-1932148	U87	brain:	n/a
46	chr5:1932098-1932148	HRPEpiC	eye:	n/a
47	chr5:1932098-1932148	AG10803	skin:	n/a
48	chr5:1932098-1932148	HEK293	kidney:	embryo
49	chr5:1932098-1932148	Caco-2	colon:	n/a
50	chr5:1932098-1932148	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:1881423..1883600-chr5:1931817..1933419,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248994	TF binding region
ENSG00000248994	CpG island
ENSG00000113430	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs260405	1.00[EUR][1000 genomes]
rs59223419	1.00[EUR][1000 genomes]
rs6887187	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73732373	1.00[EUR][1000 genomes]
rs7707397	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv881557	chr5:1822326-1932463	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv880886	chr5:1880891-1936443	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv880460	chr5:1886471-1936443	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv915846	chr5:1891098-2167677	Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv881650	chr5:1892995-1944487	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv880653	chr5:1892995-1946697	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1015576	chr5:1894124-1942909	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv880562	chr5:1895829-1936443	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv881174	chr5:1895829-1942834	Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv880381	chr5:1895829-1946697	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1026930	chr5:1898993-2126061	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv508344	chr5:1905222-1976860	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv881562	chr5:1907974-1976187	Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv880964	chr5:1912921-1953161	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv596897	chr5:1924628-1934490	Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1930400-1932200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr5:1930400-1932200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:1930400-1932200	Flanking Active TSS	NHEK	skin
4	chr5:1930400-1932400	Flanking Active TSS	HMEC	breast
5	chr5:1930600-1932200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr5:1930600-1932200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:1930600-1932400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:1930600-1932400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:1930800-1932200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr5:1930800-1932200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:1930800-1932200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:1930800-1932200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
13	chr5:1930800-1932200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr5:1930800-1932200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:1930800-1932200	Active TSS	Colon Smooth Muscle	Colon
16	chr5:1930800-1932200	Active TSS	Left Ventricle	heart
17	chr5:1930800-1932200	Active TSS	Right Atrium	heart
18	chr5:1930800-1932200	Active TSS	Right Ventricle	heart
19	chr5:1931000-1932200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
20	chr5:1931000-1932200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
21	chr5:1931000-1932200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr5:1931000-1932200	Active TSS	Ovary	ovary
23	chr5:1931000-1932200	Active TSS	Pancreas	Pancrea
24	chr5:1931200-1932200	Active TSS	Brain Angular Gyrus	brain
25	chr5:1931200-1932200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
26	chr5:1931400-1932200	Bivalent/Poised TSS	Lung	lung
27	chr5:1931400-1932200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
28	chr5:1931600-1932200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:1931600-1932200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:1931600-1932200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:1931800-1932200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
32	chr5:1931800-1932200	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr5:1931800-1932200	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr5:1932000-1932200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr5:1932000-1932200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:1932000-1932200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
37	chr5:1932000-1932200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
38	chr5:1932000-1932200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr5:1932000-1932200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
40	chr5:1932000-1932200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:1932000-1932200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:1932000-1932200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:1932000-1932200	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr5:1932000-1932200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:1932000-1932200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:1932000-1932200	Enhancers	Fetal Heart	heart
47	chr5:1932000-1932200	Bivalent/Poised TSS	Fetal Kidney	kidney
48	chr5:1932000-1932200	Flanking Active TSS	Psoas Muscle	Psoas
49	chr5:1932000-1932200	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr5:1932000-1932200	Flanking Active TSS	Stomach Smooth Muscle	stomach

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