Variant report

Variant	rs2869642
Chromosome Location	chr4:87994639-87994640
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87991629..87993752-chr4:87994519..87997259,3	K562	blood:
2	chr4:87994063..87995021-chr4:88041972..88042770,2	MCF-7	breast:
3	chr4:87991257..87994898-chr4:87995752..87998471,3	MCF-7	breast:
4	chr4:87927884..87929390-chr4:87993723..87995329,2	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10018897	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10516789	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs168204	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1841265	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs19026	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs236674	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs236675	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs236678	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs236685	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs236686	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs236687	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2926512	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3116679	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs342436	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs342457	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs342458	0.92[ASN][1000 genomes]
rs342459	0.92[ASN][1000 genomes]
rs342460	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs342461	0.92[ASN][1000 genomes]
rs342462	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs342465	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3775225	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3822042	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs384059	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs390604	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs393991	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs411365	0.89[ASN][1000 genomes]
rs447990	0.94[ASN][1000 genomes]
rs60757751	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6827213	0.92[ASN][1000 genomes]
rs9992235	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[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:120 , 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	chr4:87982600-87999600	Weak transcription	K562	blood
4	chr4:87982800-87995000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:87984000-87994800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:87990200-87995000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:87990200-87995000	Weak transcription	Lung	lung
8	chr4:87990200-87995000	Weak transcription	Ovary	ovary
9	chr4:87990200-87999400	Weak transcription	Gastric	stomach
10	chr4:87990200-87999600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:87990200-88008000	Weak transcription	Spleen	Spleen
12	chr4:87990400-87995000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:87990400-87998400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:87990600-87995000	Weak transcription	Esophagus	oesophagus
15	chr4:87990800-87994800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:87990800-87994800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:87990800-88000200	Weak transcription	Fetal Brain Female	brain
18	chr4:87992000-87995600	Enhancers	Fetal Intestine Large	intestine
19	chr4:87992000-87996200	Enhancers	Primary hematopoietic stem cells	blood
20	chr4:87992400-87995600	Enhancers	Placenta	Placenta
21	chr4:87992600-87994800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr4:87992600-87994800	Weak transcription	Right Atrium	heart
23	chr4:87992800-87994800	Weak transcription	Small Intestine	intestine
24	chr4:87993000-87995000	Weak transcription	Left Ventricle	heart
25	chr4:87993000-87995000	Weak transcription	Pancreas	Pancrea
26	chr4:87993200-87995200	Weak transcription	A549	lung
27	chr4:87993600-87995600	Enhancers	Fetal Intestine Small	intestine
28	chr4:87993800-87994800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:87993800-87994800	Enhancers	Liver	Liver
30	chr4:87993800-87995200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:87993800-87995600	Enhancers	Colonic Mucosa	Colon
32	chr4:87993800-87995600	Enhancers	Right Ventricle	heart
33	chr4:87993800-87995600	Enhancers	HMEC	breast
34	chr4:87993800-87995800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:87993800-87995800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:87993800-87995800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:87993800-87995800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:87994000-87994800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:87994000-87994800	Enhancers	Primary T cells from cord blood	blood
40	chr4:87994000-87994800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr4:87994000-87994800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr4:87994000-87994800	Enhancers	NHLF	lung
43	chr4:87994000-87995000	Weak transcription	Psoas Muscle	Psoas
44	chr4:87994000-87995200	Enhancers	HepG2	liver
45	chr4:87994000-87995200	Enhancers	HUVEC	blood vessel
46	chr4:87994000-87995200	Enhancers	NHDF-Ad	bronchial
47	chr4:87994000-87995400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:87994000-87995600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:87994000-87995600	Enhancers	Stomach Mucosa	stomach
50	chr4:87994000-87995800	Enhancers	HUES64 Cell Line	embryonic stem cell

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