Variant report

Variant	rs11809740
Chromosome Location	chr1:154319689-154319690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154311948..154313840-chr1:154319169..154321002,2	K562	blood:
2	chr1:154299993..154302409-chr1:154316868..154319767,3	K562	blood:

Variant related genes	Relation type
ENSG00000143515	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12729561	0.82[CHD][hapmap];0.87[GIH][hapmap];0.87[YRI][hapmap]
rs1352333	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626035	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1760796	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1931299	0.90[EUR][1000 genomes]
rs2274988	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297606	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2297607	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2481064	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483710	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483711	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2633438	0.83[ASN][1000 genomes]
rs2988721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34640592	0.89[EUR][1000 genomes]
rs35362987	0.93[EUR][1000 genomes]
rs35387092	0.90[CEU][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.93[EUR][1000 genomes]
rs35463210	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35800693	0.93[EUR][1000 genomes]
rs3916566	0.95[CEU][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs56367957	0.91[EUR][1000 genomes]
rs61578738	0.92[EUR][1000 genomes]
rs6427560	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs6427561	0.91[EUR][1000 genomes]
rs749966	0.82[CHD][hapmap];0.87[GIH][hapmap]
rs7547298	0.93[EUR][1000 genomes]
rs9787014	0.86[GIH][hapmap];0.81[MEX][hapmap];1.00[YRI][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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	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
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154302200-154322400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:154302400-154322400	Strong transcription	Dnd41	blood
3	chr1:154302400-154323200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:154302600-154320800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:154302600-154322600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:154302600-154323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:154302800-154323000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:154303000-154322200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:154303000-154322600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:154303200-154322200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:154303200-154322400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:154303200-154323400	Strong transcription	Fetal Brain Female	brain
13	chr1:154303200-154324600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:154304000-154322000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:154305800-154322200	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr1:154306400-154322400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:154307600-154322600	Strong transcription	Osteobl	bone
18	chr1:154307600-154324600	Weak transcription	Right Atrium	heart
19	chr1:154307800-154323200	Strong transcription	Fetal Stomach	stomach
20	chr1:154307800-154323200	Strong transcription	NHLF	lung
21	chr1:154308000-154321000	Weak transcription	Stomach Mucosa	stomach
22	chr1:154308000-154322600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:154308000-154323000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:154308200-154320600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:154308200-154322200	Strong transcription	Fetal Muscle Leg	muscle
26	chr1:154308200-154323000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:154308200-154323200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:154308200-154323400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:154308600-154323000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:154309400-154322400	Strong transcription	Brain Cingulate Gyrus	brain
31	chr1:154309400-154322400	Strong transcription	NHDF-Ad	bronchial
32	chr1:154309600-154321800	Strong transcription	Fetal Lung	lung
33	chr1:154309600-154322200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:154309600-154322400	Strong transcription	Left Ventricle	heart
35	chr1:154309600-154322400	Strong transcription	Thymus	Thymus
36	chr1:154309600-154322800	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr1:154309600-154323000	Strong transcription	Brain Germinal Matrix	brain
38	chr1:154309600-154323200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:154309800-154321400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:154309800-154321400	Strong transcription	Placenta	Placenta
41	chr1:154309800-154322400	Strong transcription	Brain Angular Gyrus	brain
42	chr1:154309800-154322400	Strong transcription	Ovary	ovary
43	chr1:154309800-154322600	Strong transcription	Right Ventricle	heart
44	chr1:154310000-154322400	Strong transcription	Colon Smooth Muscle	Colon
45	chr1:154311600-154321600	Strong transcription	A549	lung
46	chr1:154311800-154321800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:154312000-154323200	Strong transcription	Fetal Intestine Small	intestine
48	chr1:154312200-154322400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:154312200-154325200	Weak transcription	Fetal Kidney	kidney
50	chr1:154312800-154322200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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