Variant report

Variant	rs12038684
Chromosome Location	chr1:154731622-154731623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154729822..154732595-chr1:154736390..154738634,2	K562	blood:
2	chr1:154730023..154732605-chr1:154848497..154850117,2	K562	blood:
3	chr1:154731200..154733874-chr1:154738187..154740099,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12032020	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12034376	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12131774	0.86[ASN][1000 genomes]
rs12134335	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7513331	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7527786	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7553671	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154717000-154732800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:154724200-154732800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:154724400-154732800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:154724600-154732800	Weak transcription	Fetal Brain Female	brain
5	chr1:154724800-154732800	Weak transcription	Brain Anterior Caudate	brain
6	chr1:154724800-154732800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:154724800-154733000	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:154727400-154731800	Weak transcription	GM12878-XiMat	blood
9	chr1:154727800-154732600	Enhancers	Primary T cells from cord blood	blood
10	chr1:154727800-154733000	Weak transcription	Psoas Muscle	Psoas
11	chr1:154728000-154732800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:154728800-154732000	Enhancers	Fetal Thymus	thymus
13	chr1:154729200-154732800	Weak transcription	Right Ventricle	heart
14	chr1:154730000-154732800	Weak transcription	Right Atrium	heart
15	chr1:154730000-154733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:154730800-154732800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:154730800-154732800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:154731000-154732800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:154731000-154732800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:154731000-154732800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:154731000-154733000	Enhancers	Left Ventricle	heart
22	chr1:154731200-154732000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:154731400-154731800	Weak transcription	Esophagus	oesophagus
24	chr1:154731400-154732000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:154731400-154733200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:154731600-154731800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr1:154731600-154732000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:154731600-154732000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:154731600-154732000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:154731600-154732200	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:154731600-154732200	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr1:154731600-154732200	Enhancers	Lung	lung
33	chr1:154731600-154732200	Enhancers	Thymus	Thymus
34	chr1:154731600-154732200	Bivalent Enhancer	HUVEC	blood vessel
35	chr1:154731600-154732600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:154731600-154732600	Enhancers	Colonic Mucosa	Colon
37	chr1:154731600-154732800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:154731600-154732800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:154731600-154732800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:154731600-154732800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:154731600-154732800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:154731600-154732800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr1:154731600-154732800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr1:154731600-154733000	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links