Variant report

Variant	rs12754189
Chromosome Location	chr1:154812630-154812631
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	chr1:154805265..154806840-chr1:154812119..154813986,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11586348	0.94[ASN][1000 genomes]
rs11588763	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128882	0.94[ASN][1000 genomes]
rs1218566	0.88[ASN][1000 genomes]
rs1218576	0.94[ASN][1000 genomes]
rs13376333	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13376345	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34106427	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34292822	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34515871	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36004974	0.94[ASN][1000 genomes]
rs36088503	0.81[AFR][1000 genomes]
rs61150523	0.94[ASN][1000 genomes]
rs6426985	0.94[ASN][1000 genomes]
rs6426986	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426987	0.94[ASN][1000 genomes]
rs6426988	0.94[ASN][1000 genomes]
rs6658392	0.94[ASN][1000 genomes]
rs6666258	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666891	0.81[EUR][1000 genomes]
rs6691463	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691945	0.94[ASN][1000 genomes]
rs6704241	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6704449	0.94[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	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
2	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
3	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154803200-154824600	Enhancers	Fetal Brain Male	brain
2	chr1:154805600-154816400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:154805800-154813600	Enhancers	Lung	lung
4	chr1:154806200-154818000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:154806800-154817600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:154806800-154817800	Weak transcription	Right Ventricle	heart
7	chr1:154808400-154817000	Enhancers	Fetal Muscle Trunk	muscle
8	chr1:154808400-154823600	Enhancers	Fetal Muscle Leg	muscle
9	chr1:154809800-154813600	Enhancers	Fetal Brain Female	brain
10	chr1:154810000-154813600	Enhancers	Spleen	Spleen
11	chr1:154810200-154812800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:154810400-154813000	Enhancers	HSMMtube	muscle
13	chr1:154810400-154813600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:154810400-154817800	Weak transcription	Brain Angular Gyrus	brain
15	chr1:154810600-154812800	Weak transcription	Brain Substantia Nigra	brain
16	chr1:154810600-154813600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:154810600-154816200	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:154811000-154813200	Enhancers	Brain Anterior Caudate	brain
19	chr1:154811200-154813800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:154811200-154817600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:154811400-154813200	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:154811400-154814400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:154811600-154813800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:154812000-154813000	Enhancers	Colon Smooth Muscle	Colon
25	chr1:154812000-154813200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:154812000-154813200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr1:154812000-154813400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:154812000-154813400	Enhancers	Fetal Lung	lung
29	chr1:154812000-154813400	Enhancers	Right Atrium	heart
30	chr1:154812000-154813600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:154812000-154813600	Enhancers	Fetal Heart	heart
32	chr1:154812000-154813600	Enhancers	Placenta	Placenta
33	chr1:154812000-154813600	Enhancers	HSMM	muscle
34	chr1:154812000-154813800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:154812000-154813800	Enhancers	HUVEC	blood vessel
36	chr1:154812000-154818600	Enhancers	Fetal Stomach	stomach
37	chr1:154812000-154822000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:154812200-154813200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:154812200-154813200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:154812200-154813200	Enhancers	Fetal Intestine Small	intestine
41	chr1:154812200-154813400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:154812200-154813600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:154812200-154813600	Enhancers	Stomach Smooth Muscle	stomach
44	chr1:154812200-154813800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr1:154812200-154814000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:154812400-154812800	Weak transcription	Fetal Thymus	thymus
47	chr1:154812400-154812800	Weak transcription	GM12878-XiMat	blood
48	chr1:154812400-154813000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:154812400-154813200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:154812400-154813800	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links