Variant report

Variant	rs60912143
Chromosome Location	chr10:119000528-119000529
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	ZNF143	chr10:118999786-119000804	H1-hESC	embryonic stem cell:	n/a	chr10:118999801-118999820
2	CREB1	chr10:118999944-119000859	H1-hESC	embryonic stem cell:	n/a	chr10:119000574-119000587
3	NRF1	chr10:119000518-119000564	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr10:119000032-119000563	ECC-1	luminal epithelium:	n/a	chr10:119000397-119000407 chr10:119000437-119000447 chr10:119000266-119000279 chr10:119000438-119000447 chr10:119000271-119000279 chr10:119000266-119000279 chr10:119000263-119000282 chr10:119000266-119000279 chr10:119000268-119000277
5	CTBP2	chr10:118999810-119000801	H1-hESC	embryonic stem cell:	n/a	n/a
6	EGR1	chr10:119000255-119000789	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr10:119000014-119000687	H1-hESC	embryonic stem cell:	n/a	chr10:119000575-119000584 chr10:119000577-119000586
8	EGR1	chr10:119000403-119000686	K562	blood:	n/a	n/a
9	ZBTB7A	chr10:119000216-119001042	ECC-1	luminal epithelium:	n/a	n/a
10	ZBTB7A	chr10:119000464-119000583	K562	blood:	n/a	n/a
11	GABPA	chr10:119000265-119000794	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr10:118999659-119000601	H1-hESC	embryonic stem cell:	n/a	chr10:118999849-118999859 chr10:119000397-119000407 chr10:119000437-119000447 chr10:119000266-119000279 chr10:119000438-119000447 chr10:119000271-119000279 chr10:119000266-119000279 chr10:119000263-119000282 chr10:119000266-119000279 chr10:119000268-119000277
13	E2F6	chr10:119000134-119000670	H1-hESC	embryonic stem cell:	n/a	chr10:119000575-119000584 chr10:119000577-119000586
14	POLR2A	chr10:118999828-119000691	H1-hESC	embryonic stem cell:	n/a	n/a
15	JUND	chr10:119000358-119000715	H1-hESC	embryonic stem cell:	n/a	chr10:119000576-119000585
16	EGR1	chr10:119000290-119000745	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZBTB7A	chr10:119000182-119001122	ECC-1	luminal epithelium:	n/a	n/a
18	SIN3A	chr10:118999652-119000895	H1-hESC	embryonic stem cell:	n/a	chr10:119000267-119000276 chr10:119000777-119000790
19	CHD2	chr10:119000506-119000541	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr10:119000198-119000806	H1-hESC	embryonic stem cell:	n/a	chr10:119000574-119000587
21	TBP	chr10:118999727-119000687	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr10:118999681-119000897	H1-hESC	embryonic stem cell:	n/a	chr10:118999849-118999859 chr10:119000397-119000407 chr10:119000437-119000447 chr10:119000266-119000279 chr10:119000438-119000447 chr10:119000271-119000279 chr10:119000266-119000279 chr10:119000263-119000282 chr10:119000266-119000279 chr10:119000268-119000277

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:118999700..119002680-chr17:41380895..41383406,2	K562	blood:

Variant related genes	Relation type
SLC18A2	TF binding region
ENSG00000236383	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2532802	0.86[ASN][1000 genomes]
rs28634565	0.85[AFR][1000 genomes]
rs363364	0.86[AFR][1000 genomes]
rs3753127	0.80[AFR][1000 genomes]
rs57663418	0.86[AFR][1000 genomes]
rs58968504	0.86[AFR][1000 genomes]
rs61560104	0.97[AFR][1000 genomes];0.89[ASN][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	nsv832002	chr10:118797070-119005840	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv896038	chr10:118917671-119002667	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
3	esv1812234	chr10:118977123-119004095	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3436378	chr10:118999787-119002535	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118999000-119000600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:118999600-119001800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr10:118999600-119002000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr10:118999800-119000800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr10:118999800-119001400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr10:118999800-119001400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr10:118999800-119001400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:118999800-119001600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr10:118999800-119001600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr10:118999800-119001600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:119000000-119000600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:119000000-119000800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr10:119000000-119001000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:119000000-119001000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:119000000-119001600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr10:119000000-119001800	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr10:119000200-119000600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
18	chr10:119000200-119000600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:119000200-119000600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:119000200-119000600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
21	chr10:119000200-119000800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:119000200-119000800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:119000200-119000800	Enhancers	Pancreas	Pancrea
24	chr10:119000200-119001000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr10:119000200-119001000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr10:119000200-119001200	Bivalent Enhancer	Adipose Nuclei	Adipose
27	chr10:119000200-119001200	Bivalent Enhancer	Fetal Brain Male	brain
28	chr10:119000200-119001400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr10:119000200-119001400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:119000200-119001400	Bivalent/Poised TSS	Right Ventricle	heart
31	chr10:119000200-119001400	Bivalent/Poised TSS	HepG2	liver
32	chr10:119000200-119001600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
33	chr10:119000200-119001600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:119000200-119001600	Bivalent Enhancer	Spleen	Spleen
35	chr10:119000200-119001800	Active TSS	Ovary	ovary
36	chr10:119000200-119002200	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr10:119000200-119002200	Bivalent/Poised TSS	Thymus	Thymus
38	chr10:119000400-119000600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:119000400-119000600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr10:119000400-119000600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr10:119000400-119000600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr10:119000400-119000800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:119000400-119000800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr10:119000400-119000800	Enhancers	Gastric	stomach
45	chr10:119000400-119000800	Bivalent/Poised TSS	HUVEC	blood vessel
46	chr10:119000400-119001000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:119000400-119001000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
48	chr10:119000400-119001200	Bivalent/Poised TSS	Fetal Brain Female	brain
49	chr10:119000400-119001400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
50	chr10:119000400-119001400	Bivalent Enhancer	Lung	lung

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