Variant report

Variant	rs73009949
Chromosome Location	chr1:153571409-153571410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153553109..153555859-chr1:153569592..153572409,2	MCF-7	breast:
2	chr1:153560421..153565651-chr1:153569882..153572775,5	K562	blood:
3	chr1:153558024..153561323-chr1:153570462..153573757,5	MCF-7	breast:
4	chr1:153549624..153551143-chr1:153570106..153572886,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11486186	1.00[AMR][1000 genomes]
rs11808118	1.00[AMR][1000 genomes]
rs28574283	1.00[AMR][1000 genomes]
rs34192791	1.00[AMR][1000 genomes]
rs61545193	1.00[AMR][1000 genomes]
rs6682725	1.00[AMR][1000 genomes]
rs73009905	1.00[AMR][1000 genomes]
rs73009929	1.00[AMR][1000 genomes]
rs73009950	1.00[AMR][1000 genomes]
rs73009952	1.00[AMR][1000 genomes]
rs73026369	1.00[AMR][1000 genomes]
rs73026373	1.00[AMR][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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153560400-153580000	Weak transcription	Right Atrium	heart
2	chr1:153561200-153577600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:153565600-153572200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:153565800-153575800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:153565800-153580400	Weak transcription	Brain Anterior Caudate	brain
6	chr1:153565800-153580400	Weak transcription	Fetal Kidney	kidney
7	chr1:153566800-153579200	Weak transcription	Aorta	Aorta
8	chr1:153568800-153571600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:153568800-153571800	Enhancers	Thymus	Thymus
10	chr1:153568800-153572600	Enhancers	Primary B cells from cord blood	blood
11	chr1:153568800-153572600	Enhancers	NHDF-Ad	bronchial
12	chr1:153568800-153574400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:153569200-153571800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:153569200-153572400	Enhancers	Fetal Thymus	thymus
15	chr1:153569200-153572800	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:153569600-153571800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:153569600-153572400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:153569600-153572400	Enhancers	HUVEC	blood vessel
19	chr1:153569600-153572400	Enhancers	Osteobl	bone
20	chr1:153569600-153578200	Weak transcription	Gastric	stomach
21	chr1:153569800-153572600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:153569800-153577800	Weak transcription	Esophagus	oesophagus
23	chr1:153569800-153577800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:153569800-153577800	Weak transcription	A549	lung
25	chr1:153570000-153571600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:153570000-153572000	Weak transcription	Fetal Intestine Small	intestine
27	chr1:153570000-153572200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:153570200-153572000	Enhancers	HSMM	muscle
29	chr1:153570200-153572200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:153570200-153572400	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:153570200-153572400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:153570200-153574000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:153570400-153571600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr1:153570400-153572600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:153570400-153579800	Weak transcription	HepG2	liver
36	chr1:153570600-153572400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr1:153570600-153572800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:153570800-153571600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:153570800-153571600	Enhancers	Spleen	Spleen
40	chr1:153570800-153572400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:153570800-153572400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:153570800-153572400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:153570800-153572400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr1:153570800-153572400	Enhancers	Fetal Muscle Trunk	muscle
45	chr1:153570800-153572400	Enhancers	Fetal Muscle Leg	muscle
46	chr1:153570800-153572400	Enhancers	HSMMtube	muscle
47	chr1:153570800-153572600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:153570800-153572600	Enhancers	Adipose Nuclei	Adipose
49	chr1:153571000-153571600	Enhancers	Primary T cells from cord blood	blood
50	chr1:153571000-153571600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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