Variant report

Variant	rs73130214
Chromosome Location	chr5:75378205-75378206
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:75377388-75378440	H1-neurons	neurons:	n/a	n/a
2	CTBP2	chr5:75377647-75378284	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr5:75377533-75378254	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr5:75377350-75381483	SK-N-SH	brain:	n/a	n/a
5	SIN3A	chr5:75377597-75378228	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr5:75378100-75378250	SK-N-SH_RA	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:75378176-75378226	AG09309	skin:	n/a
2	chr5:75378176-75378226	ECC-1	luminal epithelium:	n/a
3	chr5:75378176-75378226	SKMC	muscle:	n/a
4	chr5:75378176-75378226	HUVEC	blood vessel:	n/a
5	chr5:75378176-75378226	HEK293	kidney:	embryo
6	chr5:75378176-75378226	HEEpiC	esophagus:	n/a
7	chr5:75378176-75378226	LNCaP	prostate:	n/a
8	chr5:75378176-75378226	NHBE	bronchial:	n/a
9	chr5:75378176-75378226	CMK	blood:	n/a
10	chr5:75378176-75378226	PANC-1	pancreas:	n/a
11	chr5:75378176-75378226	H1-hESC	embryonic stem cell:	embryo
12	chr5:75378176-75378226	BE2_C	brain:	n/a
13	chr5:75378176-75378226	NHDF-neo	bronchial:	n/a
14	chr5:75378176-75378226	Jurkat	blood:	n/a
15	chr5:75378176-75378226	HL-60	blood:	n/a
16	chr5:75378176-75378226	HRE	kidney:	n/a
17	chr5:75378176-75378226	HCM	heart:	n/a
18	chr5:75378176-75378226	GM06990	blood:	n/a
19	chr5:75378176-75378226	NH-A	brain:	n/a
20	chr5:75378176-75378226	GM12891	blood:	n/a
21	chr5:75378176-75378226	Hela-S3	cervix:	n/a
22	chr5:75378176-75378226	IMR90	lung:	fetal
23	chr5:75378176-75378226	HepG2	liver:	n/a
24	chr5:75378176-75378226	RPTEC	kidney:	n/a
25	chr5:75378176-75378226	AG04450	lung:	fetal
26	chr5:75378176-75378226	AG09319	gingival:	n/a
27	chr5:75378176-75378226	GM12878	blood:	n/a
28	chr5:75378176-75378226	Caco-2	colon:	n/a
29	chr5:75378176-75378226	GM12892	blood:	n/a
30	chr5:75378176-75378226	ProgFib	skin:	n/a
31	chr5:75378176-75378226	HMEC	breast:	n/a
32	chr5:75378176-75378226	PrEC	prostate:	n/a
33	chr5:75378176-75378226	HAEpiC	amniotic membrane:	n/a
34	chr5:75378176-75378226	GM19239	blood:	n/a
35	chr5:75378176-75378226	U87	brain:	n/a
36	chr5:75378176-75378226	PFSK-1	brain:	n/a
37	chr5:75378176-75378226	AG04449	skin:	fetal
38	chr5:75378176-75378226	K562	blood:	n/a
39	chr5:75378176-75378226	SK-N-SH	brain:	n/a
40	chr5:75378176-75378226	BJ	skin:	n/a
41	chr5:75378176-75378226	Hepatocyte	liver:	n/a
42	chr5:75378176-75378226	HRCEpiC	kidney:	n/a
43	chr5:75378176-75378226	AG10803	skin:	n/a
44	chr5:75378176-75378226	AoSMC	blood vessel:	n/a
45	chr5:75378176-75378226	SAEC	small airway:	n/a
46	chr5:75378176-75378226	T-47D	breast:	n/a
47	chr5:75378176-75378226	NT2-D1	testis:	n/a
48	chr5:75378176-75378226	A549	lung:	n/a
49	chr5:75378176-75378226	MCF-7	breast:	n/a
50	chr5:75378176-75378226	MCF10A-Er-Src	breast:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POC5-2	chr5:75377771-75378221	ENSG00000248127

No data

Variant related genes	Relation type
SV2C	TF binding region
SV2C	CpG island

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55738215	1.00[AMR][1000 genomes]
rs56034047	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56205297	1.00[AMR][1000 genomes]
rs58324193	1.00[AMR][1000 genomes]
rs59029235	1.00[AMR][1000 genomes]
rs59727044	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60584176	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60869443	1.00[AMR][1000 genomes]
rs61126124	1.00[AMR][1000 genomes]
rs6453200	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6863226	1.00[AMR][1000 genomes]
rs6877392	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113719	1.00[AMR][1000 genomes]
rs73126282	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73126297	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73128210	1.00[AMR][1000 genomes]
rs73130210	1.00[AMR][1000 genomes]
rs73130239	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73130289	1.00[AMR][1000 genomes]
rs73132248	1.00[AMR][1000 genomes]
rs7724449	1.00[AMR][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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv869885	chr5:75365786-75419656	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75377400-75381400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr5:75377600-75378600	Enhancers	Spleen	Spleen
3	chr5:75377600-75380000	Bivalent Enhancer	Fetal Brain Male	brain
4	chr5:75377600-75381000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr5:75377600-75381000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr5:75377600-75381200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:75377600-75381400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:75377600-75381600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr5:75377800-75378400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr5:75377800-75378400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:75377800-75378400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
12	chr5:75377800-75378400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
13	chr5:75377800-75378400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
14	chr5:75377800-75378600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:75377800-75378600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
16	chr5:75377800-75378600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr5:75377800-75378600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:75377800-75378600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
19	chr5:75377800-75378600	Bivalent/Poised TSS	Colonic Mucosa	Colon
20	chr5:75377800-75378600	Enhancers	Ovary	ovary
21	chr5:75377800-75378800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:75377800-75378800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr5:75377800-75378800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr5:75377800-75379000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr5:75377800-75379000	Enhancers	Pancreas	Pancrea
26	chr5:75377800-75379200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr5:75377800-75379600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr5:75377800-75379600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:75377800-75379800	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr5:75377800-75380000	Enhancers	Gastric	stomach
31	chr5:75377800-75380400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:75377800-75380400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:75377800-75381000	Bivalent Enhancer	Liver	Liver
34	chr5:75377800-75381200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr5:75377800-75381200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:75377800-75381200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:75378000-75378400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:75378000-75378400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
39	chr5:75378000-75378400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr5:75378000-75378400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:75378000-75378400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
42	chr5:75378000-75378400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr5:75378000-75378600	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr5:75378000-75378600	Active TSS	Brain Angular Gyrus	brain
45	chr5:75378000-75378600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:75378000-75378600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
47	chr5:75378000-75378800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:75378000-75379000	Bivalent Enhancer	Lung	lung
49	chr5:75378000-75379000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
50	chr5:75378000-75379200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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