Variant report

Variant	rs59530500
Chromosome Location	chr4:26917634-26917635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10028164	1.00[EUR][1000 genomes]
rs10031905	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1035075	1.00[EUR][1000 genomes]
rs1860981	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2192241	1.00[EUR][1000 genomes]
rs2309497	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28489605	1.00[EUR][1000 genomes]
rs4129747	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4140681	1.00[EUR][1000 genomes]
rs4599399	1.00[EUR][1000 genomes]
rs4692016	1.00[EUR][1000 genomes]
rs4692017	1.00[EUR][1000 genomes]
rs4692018	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692138	1.00[EUR][1000 genomes]
rs55646519	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56001106	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56810203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57668778	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57810647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59678983	1.00[EUR][1000 genomes]
rs61084398	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6448490	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6841079	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6858361	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116642	1.00[EUR][1000 genomes]
rs73116643	1.00[EUR][1000 genomes]
rs73116645	1.00[EUR][1000 genomes]
rs73116652	1.00[EUR][1000 genomes]
rs73116653	1.00[EUR][1000 genomes]
rs73116655	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116657	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116660	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116665	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116670	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116672	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116675	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7670520	1.00[EUR][1000 genomes]
rs7688601	1.00[EUR][1000 genomes]
rs887792	1.00[EUR][1000 genomes]
rs887794	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9790760	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1000568	chr4:26886920-27049554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26880600-26921600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:26886600-26921600	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:26907200-26937800	Weak transcription	Stomach Mucosa	stomach
4	chr4:26909600-26921400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:26909600-26923000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:26909800-26921400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:26910000-26926600	Weak transcription	Fetal Stomach	stomach
8	chr4:26910200-26921000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:26910200-26921000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:26910200-26921200	Weak transcription	Primary B cells from cord blood	blood
11	chr4:26910200-26925800	Weak transcription	NHEK	skin
12	chr4:26910400-26921400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:26910800-26921800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:26911600-26965800	Weak transcription	HMEC	breast
15	chr4:26912400-26918800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:26912600-26921600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:26912800-26919600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr4:26913000-26920200	Enhancers	Primary T cells from cord blood	blood
19	chr4:26914000-26923000	Weak transcription	Aorta	Aorta
20	chr4:26914200-26924200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:26914600-26921000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:26914600-26921600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:26914600-26921600	Weak transcription	Fetal Intestine Large	intestine
24	chr4:26914600-26921600	Weak transcription	Thymus	Thymus
25	chr4:26914600-26921800	Weak transcription	Fetal Brain Male	brain
26	chr4:26914600-26924800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:26914600-26936800	Weak transcription	Small Intestine	intestine
28	chr4:26914800-26917800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:26914800-26917800	Weak transcription	Right Atrium	heart
30	chr4:26914800-26920200	Weak transcription	Dnd41	blood
31	chr4:26914800-26921000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:26914800-26921000	Weak transcription	GM12878-XiMat	blood
33	chr4:26914800-26921200	Weak transcription	Adipose Nuclei	Adipose
34	chr4:26914800-26921200	Weak transcription	HSMM	muscle
35	chr4:26914800-26921400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:26914800-26921400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:26914800-26921600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:26914800-26921600	Weak transcription	Left Ventricle	heart
39	chr4:26914800-26921800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:26914800-26923400	Weak transcription	NHDF-Ad	bronchial
41	chr4:26914800-26924800	Weak transcription	Lung	lung
42	chr4:26914800-26925200	Weak transcription	NHLF	lung
43	chr4:26914800-26925800	Weak transcription	Colonic Mucosa	Colon
44	chr4:26914800-26926000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr4:26914800-26929200	Weak transcription	K562	blood
46	chr4:26914800-26929600	Weak transcription	Pancreas	Pancrea
47	chr4:26914800-26930000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:26914800-26932400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:26914800-26932600	Weak transcription	Spleen	Spleen
50	chr4:26914800-26942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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