Variant report

Variant	rs59317209
Chromosome Location	chr4:166010721-166010722
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	chr4:166008810..166011207-chr4:166017239..166019604,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs4582114	1.00[EUR][1000 genomes]
rs57827554	1.00[AMR][1000 genomes]
rs59843820	1.00[AMR][1000 genomes]
rs73000583	1.00[AMR][1000 genomes]
rs73001978	1.00[AMR][1000 genomes]
rs73001996	1.00[AMR][1000 genomes]
rs73003849	1.00[AMR][1000 genomes]
rs73003860	1.00[AMR][1000 genomes]
rs73003881	1.00[AMR][1000 genomes]
rs73871587	1.00[AMR][1000 genomes]
rs73871590	1.00[AMR][1000 genomes]
rs73871595	1.00[AMR][1000 genomes]
rs73875263	1.00[AMR][1000 genomes]
rs73875504	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026152	chr4:165622244-166027447	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv537336	chr4:165622244-166027447	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv1835468	chr4:165969625-166023258	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
8	esv1840053	chr4:165969625-166023258	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
9	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
10	nsv511271	chr4:166000195-166010815	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv1806654	chr4:166003471-166010815	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv1830338	chr4:166003471-166010815	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv1841293	chr4:166003471-166010815	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	esv1847305	chr4:166003471-166010815	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165990800-166026600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:165994600-166032800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:165995400-166019600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:165996000-166019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:165996000-166033000	Weak transcription	Thymus	Thymus
6	chr4:165996800-166032600	Weak transcription	Hela-S3	cervix
7	chr4:165997400-166018600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:165997800-166032400	Weak transcription	Fetal Brain Male	brain
9	chr4:165999000-166022800	Weak transcription	HUVEC	blood vessel
10	chr4:165999000-166023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:165999200-166020600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:165999400-166033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:165999600-166033000	Weak transcription	Osteobl	bone
14	chr4:166000600-166032800	Weak transcription	NHDF-Ad	bronchial
15	chr4:166001200-166020600	Weak transcription	Fetal Heart	heart
16	chr4:166005000-166012000	Strong transcription	Fetal Intestine Large	intestine
17	chr4:166005000-166015200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:166005000-166023400	Strong transcription	Fetal Stomach	stomach
19	chr4:166005000-166023600	Strong transcription	Ovary	ovary
20	chr4:166005200-166012000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:166005200-166012000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:166005200-166017000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:166005200-166017600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:166005200-166018600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr4:166005200-166023200	Strong transcription	Fetal Intestine Small	intestine
26	chr4:166005200-166024200	Strong transcription	Liver	Liver
27	chr4:166005400-166011000	Strong transcription	Lung	lung
28	chr4:166005400-166016800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:166005600-166012800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:166005800-166011000	Strong transcription	Fetal Muscle Leg	muscle
31	chr4:166005800-166011800	Strong transcription	Brain Hippocampus Middle	brain
32	chr4:166005800-166026000	Weak transcription	Psoas Muscle	Psoas
33	chr4:166005800-166033000	Weak transcription	NH-A	brain
34	chr4:166006000-166011000	Strong transcription	Placenta	Placenta
35	chr4:166006000-166016200	Weak transcription	HSMM	muscle
36	chr4:166006400-166011000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr4:166006600-166011200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:166006600-166012200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:166006600-166012600	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:166006600-166012800	Strong transcription	Primary T cells from cord blood	blood
41	chr4:166006800-166010800	Strong transcription	Spleen	Spleen
42	chr4:166006800-166011800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr4:166007000-166011000	Strong transcription	HepG2	liver
44	chr4:166007200-166033000	Weak transcription	A549	lung
45	chr4:166007400-166032600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr4:166007600-166023000	Weak transcription	K562	blood
47	chr4:166007600-166033000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:166007600-166033000	Weak transcription	HSMMtube	muscle
49	chr4:166007800-166020600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:166007800-166020600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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