Variant report

Variant	rs581888
Chromosome Location	chr11:73361265-73361266
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73361264-73361453	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:73360773-73362423	K562	blood:	n/a	n/a
3	POLR2A	chr11:73361145-73361329	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73360291..73363163-chr11:73370092..73372185,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHB1	TF binding region
ENSG00000021300	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11235831	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235835	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235836	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235837	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273310	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273355	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274744	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1278292	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1784498	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1784499	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2509065	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2512634	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3016498	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55696411	1.00[EUR][1000 genomes]
rs593056	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs593927	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs597784	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs598219	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs609218	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs623566	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs623595	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs639139	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs640153	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs642610	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs643464	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs674995	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs676375	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs676390	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs676402	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs683076	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv525173	chr11:73356872-73364673	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv521125	chr11:73359236-73378142	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv528592	chr11:73360888-73364673	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73357200-73364000	Weak transcription	Liver	Liver
2	chr11:73357800-73364200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:73358600-73363200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:73359000-73363200	Weak transcription	Right Atrium	heart
5	chr11:73359000-73371600	Weak transcription	Fetal Brain Female	brain
6	chr11:73359000-73371600	Weak transcription	Right Ventricle	heart
7	chr11:73359200-73361800	Weak transcription	Primary T cells from cord blood	blood
8	chr11:73359200-73362200	Weak transcription	Fetal Intestine Small	intestine
9	chr11:73359200-73362600	Weak transcription	HMEC	breast
10	chr11:73359200-73362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:73359200-73362800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:73359200-73362800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:73359200-73362800	Weak transcription	Gastric	stomach
14	chr11:73359200-73363000	Weak transcription	Brain Germinal Matrix	brain
15	chr11:73359200-73363200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:73359200-73363200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:73359200-73367200	Weak transcription	Spleen	Spleen
18	chr11:73359200-73371600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:73359200-73371600	Weak transcription	Thymus	Thymus
20	chr11:73359200-73371800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:73359400-73362600	Weak transcription	Pancreas	Pancrea
22	chr11:73359400-73363000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:73359400-73363400	Weak transcription	Stomach Mucosa	stomach
24	chr11:73359400-73367000	Weak transcription	Lung	lung
25	chr11:73359400-73371800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:73359600-73361600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:73359600-73362800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:73359600-73363400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:73359600-73372200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:73359800-73362800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:73359800-73362800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:73359800-73363200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:73359800-73371800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr11:73359800-73371800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:73360000-73361400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:73360000-73361400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:73360000-73363000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr11:73360200-73363200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:73360400-73361600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:73360400-73361600	Enhancers	Brain Cingulate Gyrus	brain
41	chr11:73360400-73362800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:73360400-73363000	Enhancers	Brain Hippocampus Middle	brain
43	chr11:73360600-73362400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:73360600-73362400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:73360600-73362800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:73360600-73362800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:73360800-73361600	Enhancers	Brain Substantia Nigra	brain
48	chr11:73360800-73362600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:73361000-73361800	Genic enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:73361000-73362400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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