Variant report

Variant	rs11589471
Chromosome Location	chr1:154744937-154744938
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	chr1:154743914..154746256-chr1:154842086..154843825,2	MCF-7	breast:
2	chr1:154744584..154747460-chr1:154748764..154751620,2	K562	blood:

Variant related genes	Relation type
ENSG00000143603	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10908439	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11264257	0.87[ASN][1000 genomes]
rs11584403	0.96[ASN][1000 genomes]
rs11808053	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12047201	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12404994	0.83[ASN][1000 genomes]
rs4845391	0.82[ASN][1000 genomes]
rs55829123	0.82[EUR][1000 genomes]
rs56995760	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60161870	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666341	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72700247	0.85[EUR][1000 genomes]
rs7547552	0.92[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154733400-154746400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:154740400-154746000	Weak transcription	Brain Germinal Matrix	brain
3	chr1:154740400-154747600	Weak transcription	Fetal Brain Male	brain
4	chr1:154740800-154746000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:154740800-154746200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:154740800-154764000	Weak transcription	Right Ventricle	heart
7	chr1:154741200-154745600	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:154741400-154745200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:154741400-154745600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:154741400-154745600	Weak transcription	Thymus	Thymus
11	chr1:154741400-154746200	Weak transcription	Brain Substantia Nigra	brain
12	chr1:154741400-154746600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:154741800-154745800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:154741800-154746000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:154742200-154751400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:154743600-154745800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:154743800-154746000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:154744000-154745000	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:154744000-154745400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:154744200-154745000	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr1:154744200-154745200	Strong transcription	Fetal Stomach	stomach
22	chr1:154744400-154745800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:154744400-154746200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:154744400-154746200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:154744600-154745800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:154744600-154745800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:154744800-154745000	Enhancers	Colonic Mucosa	Colon
28	chr1:154744800-154745000	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr1:154744800-154745200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:154744800-154745600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:154744800-154745600	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:154744800-154745600	Weak transcription	Pancreas	Pancrea
33	chr1:154744800-154745800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:154744800-154746000	Weak transcription	GM12878-XiMat	blood
35	chr1:154744800-154746400	Weak transcription	Spleen	Spleen
36	chr1:154744800-154747200	Weak transcription	Fetal Brain Female	brain
37	chr1:154744800-154749200	Enhancers	Brain Anterior Caudate	brain
38	chr1:154744800-154749400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links