Variant report

Variant	rs10931054
Chromosome Location	chr2:153202276-153202277
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	chr2:153196103..153199228-chr2:153200981..153204897,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10171204	1.00[EUR][1000 genomes]
rs10179391	0.81[EUR][1000 genomes]
rs10195727	1.00[EUR][1000 genomes]
rs13382410	1.00[EUR][1000 genomes]
rs13398440	0.81[EUR][1000 genomes]
rs13401202	1.00[EUR][1000 genomes]
rs13425532	1.00[EUR][1000 genomes]
rs2346199	0.81[EUR][1000 genomes]
rs28524736	1.00[EUR][1000 genomes]
rs6434003	0.81[EUR][1000 genomes]
rs6434017	0.81[EUR][1000 genomes]
rs6707033	0.81[EUR][1000 genomes]
rs6718081	0.81[EUR][1000 genomes]
rs6718584	0.81[EUR][1000 genomes]
rs6718773	0.82[EUR][1000 genomes]
rs6733002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740909	0.81[EUR][1000 genomes]
rs6751151	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers 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
2	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153193800-153211000	Weak transcription	HSMMtube	muscle
2	chr2:153194000-153203600	Weak transcription	Osteobl	bone
3	chr2:153194000-153206600	Weak transcription	Pancreas	Pancrea
4	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
5	chr2:153194400-153202800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:153194600-153204200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:153194600-153205800	Weak transcription	Left Ventricle	heart
8	chr2:153194600-153206200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:153194600-153206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:153194600-153206400	Weak transcription	Lung	lung
11	chr2:153194600-153206600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:153194600-153210400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:153194600-153210400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:153194600-153214600	Weak transcription	Gastric	stomach
15	chr2:153194800-153203800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:153195000-153204600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:153196200-153204200	Weak transcription	Fetal Brain Female	brain
19	chr2:153196600-153202400	Strong transcription	NHEK	skin
20	chr2:153196600-153211800	Weak transcription	Small Intestine	intestine
21	chr2:153196800-153203200	Weak transcription	HMEC	breast
22	chr2:153197000-153207200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:153197800-153204800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:153197800-153204800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:153198000-153205800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:153198000-153206200	Weak transcription	Fetal Brain Male	brain
27	chr2:153198000-153206200	Genic enhancers	HepG2	liver
28	chr2:153198000-153207400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:153198200-153214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:153198600-153203400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:153198600-153214400	Weak transcription	Right Atrium	heart
32	chr2:153199400-153212200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:153199800-153211800	Weak transcription	Fetal Kidney	kidney
34	chr2:153200200-153202600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:153200400-153202400	Enhancers	Brain Substantia Nigra	brain
36	chr2:153200400-153211800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:153200400-153215200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:153200600-153202400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:153200600-153202400	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:153200600-153202800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:153200600-153204000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:153200600-153204800	Weak transcription	Adipose Nuclei	Adipose
43	chr2:153200600-153205200	Enhancers	Brain Hippocampus Middle	brain
44	chr2:153200600-153210400	Weak transcription	Ovary	ovary
45	chr2:153200600-153225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:153200800-153202400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr2:153200800-153202600	Weak transcription	Fetal Stomach	stomach
48	chr2:153200800-153209200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:153200800-153210000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:153200800-153210400	Weak transcription	NHDF-Ad	bronchial

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