Variant report

Variant	rs60689318
Chromosome Location	chr13:96465683-96465684
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	SPI1	chr13:96465428-96465715	GM12891	blood:	n/a	n/a
2	ZNF143	chr13:96465631-96465901	H1-hESC	embryonic stem cell:	n/a	n/a
3	SPI1	chr13:96465400-96465724	GM12891	blood:	n/a	n/a
4	SPI1	chr13:96465402-96465813	HL-60	blood:	n/a	n/a
5	SPI1	chr13:96465315-96465883	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
HMGN1P24	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs16951257	1.00[EUR][1000 genomes]
rs17882446	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17885605	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2389266	1.00[EUR][1000 genomes]
rs34303958	1.00[EUR][1000 genomes]
rs55649836	1.00[EUR][1000 genomes]
rs55671956	1.00[EUR][1000 genomes]
rs55849606	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55858348	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58004853	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58386476	1.00[EUR][1000 genomes]
rs59666343	1.00[EUR][1000 genomes]
rs61645359	1.00[EUR][1000 genomes]
rs74106020	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74106032	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74106061	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74106068	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74106202	1.00[EUR][1000 genomes]
rs74109004	1.00[EUR][1000 genomes]
rs74109005	1.00[EUR][1000 genomes]
rs74109006	1.00[EUR][1000 genomes]
rs74109007	1.00[EUR][1000 genomes]
rs74109010	1.00[EUR][1000 genomes]
rs74109011	1.00[EUR][1000 genomes]
rs74109012	1.00[EUR][1000 genomes]
rs74109013	1.00[EUR][1000 genomes]
rs74109014	1.00[EUR][1000 genomes]
rs74109015	1.00[EUR][1000 genomes]
rs74109016	1.00[EUR][1000 genomes]
rs74109017	1.00[EUR][1000 genomes]
rs74109018	1.00[EUR][1000 genomes]
rs74109019	1.00[EUR][1000 genomes]
rs74109020	1.00[EUR][1000 genomes]
rs74109021	1.00[EUR][1000 genomes]
rs74109022	1.00[EUR][1000 genomes]
rs7990355	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832690	chr13:96330757-96508077	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3509289	chr13:96461000-96505090	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3509290	chr13:96461000-96505090	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 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	chr13:96443800-96466000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:96444400-96477600	Weak transcription	Brain Angular Gyrus	brain
3	chr13:96444400-96477600	Weak transcription	NHLF	lung
4	chr13:96444400-96485600	Weak transcription	NHDF-Ad	bronchial
5	chr13:96445600-96477400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:96445800-96490000	Weak transcription	HepG2	liver
7	chr13:96446200-96477400	Weak transcription	Gastric	stomach
8	chr13:96446400-96466000	Weak transcription	NHEK	skin
9	chr13:96446800-96477400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:96446800-96477400	Weak transcription	HSMMtube	muscle
11	chr13:96447200-96477400	Weak transcription	Osteobl	bone
12	chr13:96452000-96490600	Weak transcription	Fetal Kidney	kidney
13	chr13:96452800-96466000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:96455000-96467800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:96458800-96477400	Weak transcription	NH-A	brain
16	chr13:96460400-96477200	Weak transcription	A549	lung
17	chr13:96460400-96477400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:96461800-96466000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr13:96462000-96465800	Weak transcription	Spleen	Spleen
20	chr13:96462000-96466000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:96462000-96466000	Weak transcription	Esophagus	oesophagus
22	chr13:96462000-96466000	Weak transcription	Fetal Stomach	stomach
23	chr13:96462000-96468000	Weak transcription	Pancreas	Pancrea
24	chr13:96462000-96477400	Weak transcription	HSMM	muscle
25	chr13:96462200-96477200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:96462200-96477400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:96462600-96465800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:96462600-96465800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr13:96462600-96466000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr13:96462600-96466000	Weak transcription	Fetal Intestine Large	intestine
31	chr13:96462600-96467800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:96462600-96485600	Weak transcription	Hela-S3	cervix
33	chr13:96462800-96466000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:96462800-96466600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:96464800-96466200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:96464800-96466600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr13:96464800-96466600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr13:96464800-96466600	ZNF genes & repeats	Aorta	Aorta
39	chr13:96464800-96466800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
40	chr13:96465000-96466000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr13:96465000-96466600	ZNF genes & repeats	GM12878-XiMat	blood
42	chr13:96465000-96466800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr13:96465000-96466800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:96465000-96466800	ZNF genes & repeats	Fetal Brain Female	brain
45	chr13:96465000-96466800	ZNF genes & repeats	Ovary	ovary
46	chr13:96465000-96468800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:96465200-96466800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr13:96465400-96465800	Weak transcription	Left Ventricle	heart
49	chr13:96465400-96466200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:96465400-96466600	ZNF genes & repeats	Fetal Lung	lung

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