Variant report

Variant	rs9992235
Chromosome Location	chr4:87991429-87991430
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87989325..87991682-chr4:87996204..87998737,2	K562	blood:
2	chr4:87965986..87967736-chr4:87989394..87991945,2	K562	blood:
3	chr4:87991257..87994898-chr4:87995752..87998471,3	MCF-7	breast:
4	chr4:87979249..87981016-chr4:87989871..87992202,2	MCF-7	breast:
5	chr4:87985538..87989484-chr4:87990047..87992954,3	MCF-7	breast:

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[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10516789	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs168204	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1841265	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs19026	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs236674	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs236675	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs236678	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs236685	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs236686	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs236687	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2869642	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2926512	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3116679	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs342436	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs342457	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs342458	0.86[ASN][1000 genomes]
rs342459	0.86[ASN][1000 genomes]
rs342460	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs342461	0.86[ASN][1000 genomes]
rs342462	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs342465	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3775225	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3822042	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs384059	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs390604	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs393991	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs411365	0.83[ASN][1000 genomes]
rs447990	0.88[ASN][1000 genomes]
rs60757751	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6827213	0.85[AMR][1000 genomes];0.98[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:111 , 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	chr4:87979800-87991800	Weak transcription	A549	lung
5	chr4:87980000-87994000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:87981000-87994600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:87981200-87994000	Weak transcription	HUVEC	blood vessel
8	chr4:87981200-87994200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:87982600-87992600	Weak transcription	Small Intestine	intestine
10	chr4:87982600-87994000	Weak transcription	Primary T cells from cord blood	blood
11	chr4:87982600-87999600	Weak transcription	K562	blood
12	chr4:87982800-87993800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr4:87982800-87994600	Weak transcription	Thymus	Thymus
14	chr4:87982800-87995000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:87983000-87991800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:87983000-87994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:87983000-87994000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:87983000-87994000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:87983000-87994000	Weak transcription	HepG2	liver
20	chr4:87983000-87994400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:87983600-87993800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:87983600-87993800	Weak transcription	HMEC	breast
23	chr4:87983600-87994400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:87984000-87994800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:87986600-87992000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:87987800-87992000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:87987800-87992000	Weak transcription	Fetal Intestine Small	intestine
28	chr4:87988600-87992600	Weak transcription	Dnd41	blood
29	chr4:87988800-87992000	Weak transcription	Fetal Intestine Large	intestine
30	chr4:87988800-87994000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:87988800-87994200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:87989000-87992800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr4:87989000-87994000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr4:87989200-87992800	Enhancers	Fetal Brain Male	brain
35	chr4:87989200-87994000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:87989400-87991600	Enhancers	Psoas Muscle	Psoas
37	chr4:87989400-87994000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:87989800-87993800	Weak transcription	Colonic Mucosa	Colon
39	chr4:87990000-87992600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:87990000-87993800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:87990000-87994000	Weak transcription	NHLF	lung
42	chr4:87990000-87994400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:87990200-87991600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:87990200-87992000	Weak transcription	Left Ventricle	heart
45	chr4:87990200-87992400	Weak transcription	Adipose Nuclei	Adipose
46	chr4:87990200-87992400	Weak transcription	Pancreas	Pancrea
47	chr4:87990200-87992400	Weak transcription	Right Atrium	heart
48	chr4:87990200-87993000	Enhancers	Fetal Heart	heart
49	chr4:87990200-87993200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:87990200-87993400	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links