Variant report

Variant	rs42302
Chromosome Location	chr5:74965554-74965555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74965127..74967340-chr5:75010605..75013451,3	K562	blood:
2	chr5:74952495..74954524-chr5:74962216..74966504,3	K562	blood:
3	chr5:74959210..74961845-chr5:74965195..74967227,2	K562	blood:
4	chr5:74786766..74788653-chr5:74965428..74967574,2	K562	blood:

Variant related genes	Relation type
ENSG00000152359	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10057967	0.81[EUR][1000 genomes]
rs16872768	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2112347	0.80[EUR][1000 genomes]
rs2193989	0.80[AFR][1000 genomes]
rs253391	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs253411	0.86[CEU][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs253412	0.91[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs253414	0.90[CEU][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34351	0.84[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34358	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34359	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34360	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34361	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3797580	0.81[EUR][1000 genomes]
rs40060	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs42854	0.81[EUR][1000 genomes]
rs4704230	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6864091	0.82[EUR][1000 genomes]
rs6874626	0.82[EUR][1000 genomes]
rs6881648	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6892146	1.00[YRI][hapmap]
rs7713211	0.81[AFR][1000 genomes]
rs888787	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv522003	chr5:74947435-74988369	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74952800-74981400	Weak transcription	Psoas Muscle	Psoas
2	chr5:74957400-74966000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:74957400-74966000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:74960200-74968600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:74961000-74976800	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:74961000-74987800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:74961200-74968000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:74962000-74979400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:74963000-74966000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:74963000-74989800	Weak transcription	Esophagus	oesophagus
11	chr5:74963200-74976600	Weak transcription	HMEC	breast
12	chr5:74963400-74968600	Weak transcription	Fetal Lung	lung
13	chr5:74963400-74968600	Weak transcription	Ovary	ovary
14	chr5:74963800-74968200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:74964000-74965800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:74964000-74968200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:74964200-74965600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:74964200-74965600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:74964200-74965600	Enhancers	Stomach Mucosa	stomach
20	chr5:74964200-74966000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:74964400-74965600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:74964400-74965600	Enhancers	Gastric	stomach
23	chr5:74964400-74965600	Enhancers	Spleen	Spleen
24	chr5:74964400-74966000	Flanking Active TSS	GM12878-XiMat	blood
25	chr5:74964400-74967400	Enhancers	Fetal Kidney	kidney
26	chr5:74964600-74965600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:74964600-74965600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:74964600-74965600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr5:74964600-74965600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:74964600-74965600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:74964600-74965600	Enhancers	Small Intestine	intestine
32	chr5:74964600-74965600	Flanking Active TSS	HUVEC	blood vessel
33	chr5:74964600-74965800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:74964600-74965800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr5:74964600-74966000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:74964600-74966000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr5:74964600-74970800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:74964800-74965600	Active TSS	Primary T cells from cord blood	blood
39	chr5:74964800-74965600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr5:74964800-74965600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:74964800-74965600	Flanking Active TSS	Liver	Liver
42	chr5:74964800-74965600	Flanking Active TSS	A549	lung
43	chr5:74964800-74965800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr5:74964800-74965800	Flanking Active TSS	K562	blood
45	chr5:74964800-74989400	Weak transcription	HSMMtube	muscle
46	chr5:74965000-74965600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:74965000-74965600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:74965000-74965600	Enhancers	NHEK	skin
49	chr5:74965000-74968400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:74965000-74968400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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