Variant report

Variant	rs60814674
Chromosome Location	chr15:74895880-74895881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:74894836-74896746	PBDE	blood:	n/a	n/a
2	POLR2A	chr15:74895713-74896175	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74893062..74896210-chr15:74919628..74922428,3	K562	blood:
2	chr15:74877818..74879530-chr15:74894546..74897411,2	K562	blood:
3	chr15:74753117..74754905-chr15:74895780..74898493,2	MCF-7	breast:
4	chr15:74894086..74896270-chr15:74918441..74921127,2	MCF-7	breast:
5	chr15:74837110..74840082-chr15:74894448..74896626,2	MCF-7	breast:
6	chr15:74894451..74897620-chr15:74904865..74909062,6	K562	blood:
7	chr15:74894427..74896145-chr15:75051491..75054260,2	K562	blood:
8	chr15:74890606..74893906-chr15:74894183..74897341,6	MCF-7	breast:

No data

Variant related genes	Relation type
CLK3	TF binding region
ENSG00000247240	Chromatin interaction
ENSG00000138629	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000179335	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11547808	0.95[AFR][1000 genomes]
rs16968837	1.00[EUR][1000 genomes]
rs17861081	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17861082	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17861085	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17861107	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17861108	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17861121	1.00[EUR][1000 genomes]
rs28362893	1.00[EUR][1000 genomes]
rs28362919	1.00[EUR][1000 genomes]
rs34255805	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35570076	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35646069	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs36090160	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45527133	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4986880	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4986881	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4986882	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4986884	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56042870	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57469673	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58286051	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58573460	1.00[EUR][1000 genomes]
rs58763676	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59046618	1.00[EUR][1000 genomes]
rs59620060	1.00[EUR][1000 genomes]
rs59773112	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60032286	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60360792	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60439061	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60525627	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61204492	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74025855	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv1812223	chr15:74869438-74948063	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv904379	chr15:74869438-75027880	Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	69 gene(s)	inside rSNPs	diseases
5	esv1814078	chr15:74884447-74948063	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv457204	chr15:74885091-74948063	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv569991	chr15:74885091-74948063	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv542434	chr15:74885329-74929552	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1047943	chr15:74885329-74940857	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv817698	chr15:74889163-75019449	Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74891200-74899200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:74891400-74896600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr15:74891400-74898000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:74891400-74903400	Weak transcription	HMEC	breast
5	chr15:74891600-74896800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr15:74891600-74907200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:74891800-74896800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:74892000-74896800	Weak transcription	NHLF	lung
9	chr15:74892000-74897400	Weak transcription	Brain Hippocampus Middle	brain
10	chr15:74892000-74902400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:74892200-74897000	Weak transcription	Fetal Intestine Large	intestine
12	chr15:74892200-74898200	Weak transcription	Fetal Kidney	kidney
13	chr15:74892200-74902600	Weak transcription	Right Atrium	heart
14	chr15:74892200-74906000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:74892200-74906600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:74892400-74898800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:74892400-74902600	Weak transcription	Ovary	ovary
18	chr15:74892400-74906000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:74892400-74906400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:74892400-74906600	Weak transcription	Primary T cells from cord blood	blood
21	chr15:74892400-74906600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:74892600-74902600	Weak transcription	Spleen	Spleen
23	chr15:74892600-74902800	Weak transcription	Lung	lung
24	chr15:74893000-74906600	Weak transcription	Fetal Brain Female	brain
25	chr15:74893200-74896000	Weak transcription	Placenta	Placenta
26	chr15:74893200-74906200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr15:74893400-74902400	Weak transcription	Left Ventricle	heart
28	chr15:74893800-74896800	Weak transcription	Brain Germinal Matrix	brain
29	chr15:74893800-74902600	Weak transcription	Pancreas	Pancrea
30	chr15:74894400-74896200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr15:74894400-74896800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:74894400-74906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:74894800-74896200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr15:74894800-74896600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr15:74894800-74898000	Enhancers	Right Ventricle	heart
36	chr15:74895000-74898000	Enhancers	HepG2	liver
37	chr15:74895000-74901200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:74895200-74901000	Weak transcription	Fetal Intestine Small	intestine
39	chr15:74895200-74906400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr15:74895400-74897600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:74895600-74896200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:74895600-74897800	Weak transcription	Fetal Stomach	stomach
43	chr15:74895600-74902600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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