Variant report

Variant	rs17303301
Chromosome Location	chr19:38004356-38004357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37995579..37998422-chr19:38004137..38005715,3	MCF-7	breast:
2	chr19:37996541..38000346-chr19:38000524..38005136,9	MCF-7	breast:
3	chr19:38002449..38004595-chr19:38006976..38008761,2	K562	blood:

Variant related genes	Relation type
ENSG00000188227	Chromatin interaction
ENSG00000266916	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11083427	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11083428	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11083430	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1128327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666662	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11666738	0.90[JPT][hapmap]
rs12151218	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151280	0.90[JPT][hapmap]
rs12162238	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12459013	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12459975	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12460230	0.90[JPT][hapmap]
rs12461941	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12462271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12462505	1.00[JPT][hapmap]
rs12462524	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12986146	0.90[JPT][hapmap]
rs17243355	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279150	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2290999	0.90[JPT][hapmap]
rs35014847	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35205379	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3745764	1.00[JPT][hapmap]
rs3826849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7248397	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1056753	chr19:37963714-38015943	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37998400-38004800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:37998600-38004800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr19:37998600-38005200	Weak transcription	Psoas Muscle	Psoas
4	chr19:37998600-38008400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:37998800-38006200	Weak transcription	Esophagus	oesophagus
6	chr19:37998800-38010800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:37998800-38014000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr19:37998800-38021000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:37998800-38022600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:37999000-38006800	Weak transcription	NH-A	brain
11	chr19:37999000-38007000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:37999000-38010800	Weak transcription	Right Ventricle	heart
13	chr19:37999000-38011000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:37999000-38011400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:37999000-38013800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:37999000-38028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:37999200-38008000	Weak transcription	NHEK	skin
18	chr19:37999200-38008400	Weak transcription	Fetal Heart	heart
19	chr19:37999200-38018400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:37999400-38008600	Strong transcription	Brain Germinal Matrix	brain
21	chr19:37999600-38005200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr19:37999800-38009200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:37999800-38009800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:37999800-38012800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:38000200-38005000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:38000200-38010400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:38000400-38008600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr19:38000600-38004600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:38000600-38005800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr19:38000800-38004600	Strong transcription	Brain Anterior Caudate	brain
31	chr19:38000800-38006200	Strong transcription	Fetal Intestine Large	intestine
32	chr19:38000800-38008800	Strong transcription	Brain Hippocampus Middle	brain
33	chr19:38001800-38005600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr19:38002000-38004400	Strong transcription	Fetal Brain Female	brain
35	chr19:38002000-38005400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
36	chr19:38002000-38005600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:38002000-38005600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr19:38002000-38005800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:38002000-38028800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr19:38002200-38004800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr19:38002200-38005400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr19:38002200-38006000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:38002400-38004600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
44	chr19:38002400-38004800	Strong transcription	Brain Cingulate Gyrus	brain
45	chr19:38002400-38008200	Weak transcription	Colon Smooth Muscle	Colon
46	chr19:38002400-38009600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:38002600-38004600	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr19:38002600-38010400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:38002600-38011200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr19:38003000-38004400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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