Variant report

Variant	rs12034645
Chromosome Location	chr1:223916421-223916422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223898332..223906168-chr1:223910455..223917097,17	K562	blood:
2	chr1:223914562..223916498-chr1:223920143..223922062,2	K562	blood:
3	chr1:223914702..223917591-chr1:223920131..223923452,6	K562	blood:
4	chr1:223915826..223918177-chr1:223937169..223939533,2	K562	blood:
5	chr1:223915458..223917268-chr1:223983220..223985894,2	K562	blood:

Variant related genes	Relation type
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12022914	0.83[CHB][hapmap];0.87[CHD][hapmap]
rs12022934	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12023822	0.84[ASN][1000 genomes]
rs12026548	0.83[CHB][hapmap]
rs12027762	0.83[CHB][hapmap]
rs12036573	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs12037507	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12043790	0.87[CHD][hapmap]
rs12046438	0.84[ASN][1000 genomes]
rs12048989	0.92[CHB][hapmap]
rs1542507	0.82[CHB][hapmap]
rs16842259	0.83[CHB][hapmap];0.87[CHD][hapmap]
rs28370041	0.84[ASN][1000 genomes]
rs28370177	0.83[CHB][hapmap];0.87[CHD][hapmap]
rs59206866	0.82[ASN][1000 genomes]
rs7538151	0.83[CHB][hapmap]
rs8179303	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9804140	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv873213	chr1:223885843-223924236	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223903600-223922400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:223904400-223922400	Genic enhancers	NHLF	lung
3	chr1:223906600-223921000	Weak transcription	Fetal Brain Male	brain
4	chr1:223910800-223916800	Genic enhancers	Gastric	stomach
5	chr1:223910800-223919800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:223911800-223917200	Genic enhancers	Muscle Satellite Cultured Cells	--
7	chr1:223913000-223916600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:223913800-223916600	Enhancers	Fetal Thymus	thymus
9	chr1:223914400-223917800	Weak transcription	Brain Angular Gyrus	brain
10	chr1:223914400-223921800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:223914600-223916600	Strong transcription	Fetal Brain Female	brain
12	chr1:223914600-223916800	Genic enhancers	NHDF-Ad	bronchial
13	chr1:223914600-223918400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:223914800-223916800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:223914800-223916800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:223914800-223919000	Weak transcription	Brain Germinal Matrix	brain
17	chr1:223915000-223916600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:223915000-223917600	Strong transcription	Fetal Intestine Small	intestine
19	chr1:223915000-223919800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:223915000-223920800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:223915000-223920800	Weak transcription	Liver	Liver
22	chr1:223915000-223921000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:223915000-223921000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:223915000-223921000	Genic enhancers	NHEK	skin
25	chr1:223915200-223916600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:223915200-223918400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr1:223915200-223918400	Weak transcription	Fetal Heart	heart
28	chr1:223915200-223918400	Weak transcription	Small Intestine	intestine
29	chr1:223915200-223918600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:223915200-223919000	Weak transcription	Psoas Muscle	Psoas
31	chr1:223915200-223930800	Weak transcription	Primary T cells from cord blood	blood
32	chr1:223915400-223916600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:223915400-223916600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:223915400-223916600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:223915400-223916800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:223915400-223916800	Strong transcription	Rectal Smooth Muscle	rectum
37	chr1:223915400-223917200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:223915400-223917800	Weak transcription	Fetal Lung	lung
39	chr1:223915400-223918000	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:223915400-223918200	Weak transcription	Stomach Mucosa	stomach
41	chr1:223915400-223918400	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:223915400-223927200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:223915400-223933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:223915400-223933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:223915400-223936200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr1:223915600-223916600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:223915600-223916600	Strong transcription	Hela-S3	cervix
48	chr1:223915600-223916800	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr1:223915600-223916800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:223915600-223916800	Strong transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links