Variant report

Variant	rs72558182
Chromosome Location	chr10:94833412-94833413
allele	A/G
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	EP300	chr10:94833316-94833847	SK-N-SH_RA	brain:	n/a	chr10:94833655-94833664
2	CTCFL	chr10:94833347-94833639	K562	blood:	n/a	n/a
3	MAX	chr10:94833207-94834320	A549	lung:	n/a	n/a
4	RAD21	chr10:94833360-94834216	HCT-116	colon:	n/a	chr10:94833657-94833671 chr10:94833958-94833972
5	USF1	chr10:94833370-94833666	SK-N-SH_RA	brain:	n/a	n/a
6	MAX	chr10:94832976-94835070	H1-hESC	embryonic stem cell:	n/a	chr10:94834315-94834325
7	CTCF	chr10:94833320-94833470	HMEC	breast:	n/a	n/a
8	POLR2A	chr10:94833280-94834342	H1-neurons	neurons:	n/a	n/a
9	MAX	chr10:94833224-94834429	ECC-1	luminal epithelium:	n/a	chr10:94834315-94834325
10	SUZ12	chr10:94831576-94835260	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr10:94833196-94834405	ECC-1	luminal epithelium:	n/a	chr10:94834315-94834325
12	YY1	chr10:94833367-94833780	SK-N-SH_RA	brain:	n/a	chr10:94833627-94833641 chr10:94833653-94833662 chr10:94833464-94833473 chr10:94833653-94833667 chr10:94833625-94833636 chr10:94833650-94833664
13	CTCF	chr10:94833320-94833470	GM12874	blood:	n/a	n/a
14	SIN3A	chr10:94833175-94833714	H1-hESC	embryonic stem cell:	n/a	n/a
15	UBTF	chr10:94833411-94833679	K562	blood:	n/a	n/a
16	CTCF	chr10:94833381-94834323	SK-N-SH	brain:	n/a	chr10:94833660-94833673 chr10:94833958-94833971
17	TBP	chr10:94833349-94833757	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZBTB7A	chr10:94833120-94834579	ECC-1	luminal epithelium:	n/a	chr10:94834020-94834029 chr10:94833665-94833674
19	POLR2A	chr10:94833054-94834377	H1-neurons	neurons:	n/a	n/a
20	TCF12	chr10:94833097-94834174	ECC-1	luminal epithelium:	n/a	n/a
21	MYC	chr10:94833342-94833592	K562	blood:	n/a	n/a
22	EP300	chr10:94833401-94833624	K562	blood:	n/a	n/a
23	TEAD4	chr10:94833163-94833534	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr10:94830881-94833922	K562	blood:	n/a	n/a
25	TCF7L2	chr10:94833309-94834426	HCT-116	colon:	n/a	n/a
26	E2F6	chr10:94833315-94834044	K562	blood:	n/a	chr10:94833654-94833664 chr10:94833464-94833473 chr10:94833657-94833667
27	UBTF	chr10:94833397-94833760	K562	blood:	n/a	n/a
28	ZBTB7A	chr10:94833248-94834586	ECC-1	luminal epithelium:	n/a	chr10:94834020-94834029 chr10:94833665-94833674
29	MAX	chr10:94833079-94834560	A549	lung:	n/a	chr10:94834315-94834325
30	HA-E2F1	chr10:94833108-94834189	MCF-7	breast:	n/a	chr10:94833654-94833664 chr10:94833464-94833473 chr10:94833657-94833667
31	ELF1	chr10:94833069-94833643	GM12878	blood:	n/a	chr10:94833466-94833478
32	CCNT2	chr10:94833368-94834163	K562	blood:	n/a	n/a
33	HMGN3	chr10:94833291-94834211	K562	blood:	n/a	n/a
34	MAZ	chr10:94833355-94833640	K562	blood:	n/a	n/a
35	SUZ12	chr10:94831542-94836175	NT2-D1	testis:	n/a	n/a
36	CTCF	chr10:94833380-94833530	A549	lung:	n/a	n/a
37	MAX	chr10:94833260-94833848	K562	blood:	n/a	n/a
38	CTCF	chr10:94833400-94833550	BJ	skin:	n/a	n/a
39	EGR1	chr10:94833313-94833520	K562	blood:	n/a	chr10:94833362-94833375
40	CHD2	chr10:94833331-94833531	K562	blood:	n/a	n/a
41	RAD21	chr10:94833122-94834246	H1-hESC	embryonic stem cell:	n/a	chr10:94833657-94833671 chr10:94833958-94833972 chr10:94833274-94833288
42	CTBP2	chr10:94832999-94835160	H1-hESC	embryonic stem cell:	n/a	n/a
43	RCOR1	chr10:94833370-94833609	K562	blood:	n/a	n/a
44	HEY1	chr10:94833360-94833559	K562	blood:	n/a	chr10:94833457-94833472
45	E2F6	chr10:94833271-94833552	K562	blood:	n/a	chr10:94833464-94833473
46	POLR2A	chr10:94833188-94833939	K562	blood:	n/a	n/a
47	EP300	chr10:94833252-94833709	SK-N-SH_RA	brain:	n/a	chr10:94833277-94833293 chr10:94833655-94833664
48	RAD21	chr10:94833197-94833498	H1-hESC	embryonic stem cell:	n/a	chr10:94833274-94833288
49	CTCF	chr10:94833065-94834311	A549	lung:	n/a	chr10:94833660-94833673 chr10:94833958-94833971
50	MAX	chr10:94833321-94833734	K562	blood:	n/a	n/a

Variant related genes	Relation type
CYP26A1	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11814811	0.93[EUR][1000 genomes]
rs17093824	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17108061	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56280958	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56699273	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57573488	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60312200	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60353767	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61863116	0.82[ASN][1000 genomes]
rs7073161	0.85[ASN][1000 genomes]
rs74149194	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74149197	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74149199	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74151805	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74151818	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74151825	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976062	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802015	chr10:94811983-94839960	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv895899	chr10:94818382-94836435	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94831200-94834200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:94831400-94833800	Bivalent Enhancer	Fetal Brain Male	brain
3	chr10:94831400-94835400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr10:94831600-94833600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
5	chr10:94831600-94833800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
6	chr10:94831600-94834000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
7	chr10:94831600-94834200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:94831600-94834400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr10:94831600-94834400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
10	chr10:94831600-94835000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
11	chr10:94831600-94835200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:94831600-94835200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr10:94831600-94835400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr10:94831600-94835400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr10:94831600-94835400	Flanking Active TSS	Liver	Liver
16	chr10:94831600-94835800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr10:94831800-94835000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:94831800-94836000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr10:94832000-94833600	Bivalent Enhancer	HMEC	breast
20	chr10:94832200-94833600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:94832400-94833600	Bivalent Enhancer	Stomach Mucosa	stomach
22	chr10:94832400-94833600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr10:94832400-94834000	Enhancers	Gastric	stomach
24	chr10:94832400-94835200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:94832400-94835400	Bivalent Enhancer	Placenta	Placenta
26	chr10:94832600-94834000	Bivalent Enhancer	Fetal Heart	heart
27	chr10:94832800-94834000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:94832800-94834000	Bivalent/Poised TSS	HepG2	liver
29	chr10:94832800-94834200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr10:94832800-94834400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
31	chr10:94832800-94834400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr10:94832800-94835000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:94832800-94835200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:94832800-94835200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:94832800-94835200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr10:94833000-94833600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr10:94833000-94833800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
38	chr10:94833000-94833800	Bivalent Enhancer	NHEK	skin
39	chr10:94833000-94834000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr10:94833000-94834200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
41	chr10:94833000-94834200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:94833000-94834200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
43	chr10:94833000-94834200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
44	chr10:94833000-94834400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr10:94833000-94834400	Active TSS	Aorta	Aorta
46	chr10:94833000-94835200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:94833000-94835200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr10:94833000-94835200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr10:94833200-94833600	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr10:94833200-94833600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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