Variant report

Variant	rs17012361
Chromosome Location	chr4:87994020-87994021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87991257..87994898-chr4:87995752..87998471,3	MCF-7	breast:
2	chr4:87929393..87932319-chr4:87992706..87994245,2	K562	blood:
3	chr4:87927884..87929390-chr4:87993723..87995329,2	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10006308	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10010932	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10021180	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10021879	1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028134	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489045	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012341	1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs189333	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236988	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236990	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2904154	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342455	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57516814	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72877982	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995808	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv879525	chr4:87964363-88033352	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87964600-87995000	Weak transcription	Hela-S3	cervix
2	chr4:87968800-87995000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:87969000-87994600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:87981000-87994600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:87981200-87994200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:87982600-87999600	Weak transcription	K562	blood
7	chr4:87982800-87994600	Weak transcription	Thymus	Thymus
8	chr4:87982800-87995000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:87983000-87994400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr4:87983600-87994400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:87984000-87994800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:87988800-87994200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:87990000-87994400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:87990200-87994400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:87990200-87994400	Weak transcription	Fetal Stomach	stomach
16	chr4:87990200-87994600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:87990200-87994600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:87990200-87994600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:87990200-87994600	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:87990200-87994600	Weak transcription	Fetal Thymus	thymus
21	chr4:87990200-87995000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:87990200-87995000	Weak transcription	Lung	lung
23	chr4:87990200-87995000	Weak transcription	Ovary	ovary
24	chr4:87990200-87999400	Weak transcription	Gastric	stomach
25	chr4:87990200-87999600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:87990200-88008000	Weak transcription	Spleen	Spleen
27	chr4:87990400-87994200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:87990400-87994200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:87990400-87994400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:87990400-87994400	Enhancers	Colon Smooth Muscle	Colon
31	chr4:87990400-87994600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:87990400-87995000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:87990400-87998400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:87990600-87994200	Weak transcription	Fetal Kidney	kidney
35	chr4:87990600-87994200	Weak transcription	Fetal Lung	lung
36	chr4:87990600-87995000	Weak transcription	Esophagus	oesophagus
37	chr4:87990800-87994200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:87990800-87994400	Weak transcription	Brain Germinal Matrix	brain
39	chr4:87990800-87994800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:87990800-87994800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:87990800-88000200	Weak transcription	Fetal Brain Female	brain
42	chr4:87991000-87994400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr4:87991000-87994600	Weak transcription	Brain Angular Gyrus	brain
44	chr4:87991600-87994600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:87991800-87994400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:87992000-87994400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr4:87992000-87994600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr4:87992000-87995600	Enhancers	Fetal Intestine Large	intestine
49	chr4:87992000-87996200	Enhancers	Primary hematopoietic stem cells	blood
50	chr4:87992400-87995600	Enhancers	Placenta	Placenta

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