Variant report

Variant	rs7992760
Chromosome Location	chr13:53278104-53278105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53272168..53275270-chr13:53277522..53280783,3	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11148262	1.00[YRI][hapmap]
rs1370081	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1436724	1.00[YRI][hapmap]
rs1436728	1.00[YRI][hapmap]
rs1898282	1.00[EUR][1000 genomes]
rs2118093	1.00[YRI][hapmap]
rs2408657	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs2760779	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs342771	1.00[EUR][1000 genomes]
rs342775	1.00[EUR][1000 genomes]
rs342776	1.00[EUR][1000 genomes]
rs3989920	1.00[YRI][hapmap]
rs4242994	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4242995	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4242997	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4338683	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4477578	1.00[EUR][1000 genomes]
rs4539485	1.00[YRI][hapmap]
rs4542538	1.00[YRI][hapmap]
rs4551925	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4884223	1.00[YRI][hapmap]
rs4884247	1.00[AFR][1000 genomes]
rs4884249	1.00[AFR][1000 genomes]
rs4885887	1.00[YRI][hapmap]
rs4885910	1.00[YRI][hapmap]
rs602525	1.00[EUR][1000 genomes]
rs619222	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs630892	1.00[YRI][hapmap]
rs6420307	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6561673	1.00[YRI][hapmap]
rs6561676	1.00[YRI][hapmap]
rs6561677	1.00[YRI][hapmap]
rs6561680	1.00[EUR][1000 genomes]
rs6561681	1.00[EUR][1000 genomes]
rs6561685	1.00[YRI][hapmap]
rs6561686	1.00[YRI][hapmap]
rs676306	1.00[YRI][hapmap]
rs694014	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7324108	1.00[EUR][1000 genomes]
rs7329993	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7330193	1.00[YRI][hapmap]
rs7330361	1.00[YRI][hapmap]
rs7335091	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7335270	1.00[YRI][hapmap]
rs7338913	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7982106	1.00[EUR][1000 genomes]
rs7984073	0.94[AFR][1000 genomes]
rs7994615	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7996692	1.00[YRI][hapmap]
rs7999466	1.00[YRI][hapmap]
rs893069	1.00[AFR][1000 genomes]
rs9316581	1.00[YRI][hapmap]
rs9316584	1.00[EUR][1000 genomes]
rs9526970	1.00[YRI][hapmap]
rs9526978	1.00[YRI][hapmap]
rs9526980	1.00[EUR][1000 genomes]
rs9536222	1.00[YRI][hapmap]
rs9536228	1.00[YRI][hapmap]
rs9536235	1.00[YRI][hapmap]
rs9536241	1.00[YRI][hapmap]
rs9536244	1.00[YRI][hapmap]
rs9536250	1.00[YRI][hapmap]
rs971513	1.00[YRI][hapmap]
rs973198	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv820041	chr13:53061338-53280588	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1044949	chr13:53071140-53289426	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1044051	chr13:53139132-53287023	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1038942	chr13:53139132-53289426	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1039911	chr13:53139132-53303074	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1037189	chr13:53173013-53287060	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv541775	chr13:53173013-53287060	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53242800-53278600	Weak transcription	Psoas Muscle	Psoas
2	chr13:53256000-53282600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:53256600-53297800	Weak transcription	Pancreas	Pancrea
4	chr13:53260400-53279200	Weak transcription	Aorta	Aorta
5	chr13:53260800-53280400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:53260800-53297000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr13:53261000-53285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:53262600-53285600	Weak transcription	HMEC	breast
9	chr13:53263000-53281800	Weak transcription	Fetal Brain Male	brain
10	chr13:53263400-53278200	Weak transcription	Fetal Lung	lung
11	chr13:53263400-53285400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:53270000-53278200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:53270800-53282400	Weak transcription	Fetal Brain Female	brain
14	chr13:53272400-53297400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr13:53273200-53279200	Weak transcription	Left Ventricle	heart
16	chr13:53274200-53285400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr13:53274400-53279200	Weak transcription	Liver	Liver
18	chr13:53275000-53278600	Weak transcription	HSMM	muscle
19	chr13:53275000-53278800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr13:53275200-53278400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:53275200-53278800	Enhancers	Primary hematopoietic stem cells	blood
22	chr13:53275400-53279400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:53275400-53280200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr13:53275800-53278200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:53276000-53278400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr13:53276200-53284600	Weak transcription	Fetal Muscle Leg	muscle
27	chr13:53276400-53278400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:53276800-53279000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:53277200-53278200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr13:53277200-53278400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr13:53277600-53278400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr13:53277600-53278800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr13:53277800-53278400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr13:53277800-53278400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:53278000-53278200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:53278000-53278200	Enhancers	HUVEC	blood vessel
37	chr13:53278000-53279600	Weak transcription	Brain Hippocampus Middle	brain
38	chr13:53278000-53280200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr13:53278000-53284600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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