Variant report

Variant	rs4901603
Chromosome Location	chr14:56273576-56273577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56263621..56267640-chr14:56269558..56273646,4	K562	blood:
2	chr14:56269404..56272163-chr14:56272459..56274714,3	MCF-7	breast:
3	chr14:56256977..56259600-chr14:56273193..56275837,3	K562	blood:
4	chr14:56264314..56267640-chr14:56270614..56273646,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10130664	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139439	0.83[ASN][1000 genomes]
rs11623836	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1953360	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1953362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1953363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1959092	0.83[ASN][1000 genomes]
rs1959096	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1959097	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1959098	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2184562	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2210781	0.89[CEU][hapmap]
rs2342593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880397	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573062	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573064	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7142470	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143461	0.83[ASN][1000 genomes]
rs7148208	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7149155	0.83[ASN][1000 genomes]
rs7155326	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7156609	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7157979	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8004650	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008648	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8019451	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8022496	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs868498	0.89[EUR][1000 genomes]
rs945275	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9944128	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56269200-56275200	Enhancers	Fetal Intestine Small	intestine
2	chr14:56269600-56275200	Enhancers	Pancreas	Pancrea
3	chr14:56270000-56273800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:56270400-56273600	Weak transcription	K562	blood
5	chr14:56270600-56275200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr14:56270800-56273600	Weak transcription	Esophagus	oesophagus
7	chr14:56270800-56273800	Weak transcription	HepG2	liver
8	chr14:56271200-56275200	Enhancers	Fetal Intestine Large	intestine
9	chr14:56271600-56275200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:56271800-56274200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr14:56271800-56274800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr14:56272000-56274200	Enhancers	Duodenum Mucosa	Duodenum
13	chr14:56272000-56274200	Enhancers	Fetal Heart	heart
14	chr14:56272000-56274400	Weak transcription	Gastric	stomach
15	chr14:56272000-56275200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:56272400-56275400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr14:56272600-56273600	Weak transcription	Lung	lung
18	chr14:56272600-56274200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr14:56272800-56273600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr14:56273200-56273600	Enhancers	Dnd41	blood
21	chr14:56273200-56274800	Enhancers	Left Ventricle	heart
22	chr14:56273200-56274800	Enhancers	HMEC	breast
23	chr14:56273400-56273600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr14:56273400-56273600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:56273400-56273600	Bivalent Enhancer	Adipose Nuclei	Adipose
26	chr14:56273400-56273800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:56273400-56273800	Enhancers	Right Ventricle	heart
28	chr14:56273400-56273800	Flanking Active TSS	Stomach Mucosa	stomach
29	chr14:56273400-56274000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr14:56273400-56274000	Enhancers	Fetal Stomach	stomach
31	chr14:56273400-56274200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr14:56273400-56274400	Enhancers	Fetal Thymus	thymus
33	chr14:56273400-56274400	Enhancers	A549	lung
34	chr14:56273400-56274600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:56273400-56274600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:56273400-56274600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:56273400-56274600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:56273400-56274600	Enhancers	Thymus	Thymus
39	chr14:56273400-56274600	Flanking Active TSS	Hela-S3	cervix
40	chr14:56273400-56274800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:56273400-56274800	Enhancers	Right Atrium	heart
42	chr14:56273400-56274800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr14:56273400-56274800	Enhancers	NHEK	skin
44	chr14:56273400-56275000	Enhancers	Colonic Mucosa	Colon
45	chr14:56273400-56275000	Enhancers	Small Intestine	intestine
46	chr14:56273400-56275000	Enhancers	HUVEC	blood vessel
47	chr14:56273400-56275200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr14:56273400-56275200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr14:56273400-56275200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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