Variant report

Variant	rs33004
Chromosome Location	chr5:14206232-14206233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14190934..14193452-chr5:14204987..14206665,2	K562	blood:

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

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

rs_ID	r²[population]
rs149123	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs151899	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs151900	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs151924	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164629	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs171592	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245445	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs248899	0.87[ASN][1000 genomes]
rs26114	0.93[ASN][1000 genomes]
rs26136	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs26137	0.93[ASN][1000 genomes]
rs26280	0.82[ASN][1000 genomes]
rs26281	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26289	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs27463	0.92[ASN][1000 genomes]
rs28030	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs32392	0.87[ASN][1000 genomes]
rs32548	0.93[ASN][1000 genomes]
rs32549	0.93[ASN][1000 genomes]
rs33007	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33027	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs352112	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39617	0.93[ASN][1000 genomes]
rs43181	0.89[EUR][1000 genomes]
rs544588	0.80[ASN][1000 genomes]

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	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14192200-14208000	Weak transcription	Hela-S3	cervix
2	chr5:14200600-14217000	Weak transcription	Fetal Brain Male	brain
3	chr5:14201400-14207000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:14201600-14207000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:14202000-14207800	Enhancers	Small Intestine	intestine
6	chr5:14202200-14212600	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:14203200-14207800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr5:14203800-14207800	Enhancers	Lung	lung
9	chr5:14203800-14214600	Enhancers	Fetal Thymus	thymus
10	chr5:14204000-14216800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:14204200-14207800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:14204400-14210400	Weak transcription	Fetal Heart	heart
13	chr5:14204600-14207800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:14204600-14210000	Weak transcription	Placenta	Placenta
15	chr5:14205000-14206400	Enhancers	Colonic Mucosa	Colon
16	chr5:14205000-14214400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:14205200-14206600	Weak transcription	Right Ventricle	heart
18	chr5:14205200-14207400	Weak transcription	Gastric	stomach
19	chr5:14205200-14209600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:14205200-14210000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:14205200-14210400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:14205200-14210400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:14205200-14211400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:14205200-14212000	Weak transcription	Aorta	Aorta
25	chr5:14205400-14206600	Weak transcription	Fetal Lung	lung
26	chr5:14205400-14207000	Enhancers	Primary T cells from cord blood	blood
27	chr5:14205400-14207000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:14205400-14207400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:14205400-14207400	Weak transcription	Left Ventricle	heart
30	chr5:14205400-14207400	Weak transcription	Right Atrium	heart
31	chr5:14205400-14207600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:14205400-14207600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:14205400-14207600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:14205400-14207600	Weak transcription	Fetal Stomach	stomach
35	chr5:14205400-14207600	Weak transcription	Ovary	ovary
36	chr5:14205400-14208000	Enhancers	HMEC	breast
37	chr5:14205400-14208600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:14205400-14208800	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr5:14205400-14209000	Enhancers	Duodenum Mucosa	Duodenum
40	chr5:14205400-14209400	Enhancers	Colon Smooth Muscle	Colon
41	chr5:14205400-14210000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:14205400-14210400	Weak transcription	Brain Germinal Matrix	brain
43	chr5:14205400-14210400	Weak transcription	Fetal Brain Female	brain
44	chr5:14205400-14212000	Enhancers	Primary B cells from cord blood	blood
45	chr5:14205400-14212800	Weak transcription	Brain Anterior Caudate	brain
46	chr5:14205400-14213000	Weak transcription	Brain Angular Gyrus	brain
47	chr5:14205400-14214000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:14205400-14214200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:14205400-14215000	Enhancers	Fetal Intestine Large	intestine
50	chr5:14205400-14216000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links