Variant report

Variant	rs58481917
Chromosome Location	chr1:172533774-172533775
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172533299..172534999-chr1:172535109..172538092,2	K562	blood:
2	chr1:172520454..172524675-chr1:172533729..172536639,3	K562	blood:
3	chr1:172503248..172504952-chr1:172533651..172536311,2	K562	blood:

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs2472551	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2516063	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35344763	1.00[EUR][1000 genomes]
rs55678532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56001419	1.00[EUR][1000 genomes]
rs56884575	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57117081	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57600271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58097538	1.00[EUR][1000 genomes]
rs58852323	1.00[EUR][1000 genomes]
rs58899638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60296720	1.00[EUR][1000 genomes]
rs60345777	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60485575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61692965	1.00[EUR][1000 genomes]
rs6683359	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032190	1.00[EUR][1000 genomes]
rs73034011	1.00[EUR][1000 genomes]
rs74124226	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124228	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124231	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124232	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124235	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124242	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124244	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124245	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124248	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124250	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124251	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124253	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124255	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124256	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124257	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124258	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7526530	1.00[EUR][1000 genomes]
rs7538218	1.00[EUR][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	nsv872547	chr1:172511969-172545832	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv872548	chr1:172518012-172551724	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172503800-172534200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:172511800-172557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:172512000-172534200	Weak transcription	Gastric	stomach
4	chr1:172514200-172558800	Weak transcription	Small Intestine	intestine
5	chr1:172516800-172550200	Weak transcription	Fetal Heart	heart
6	chr1:172519200-172534600	Weak transcription	Right Ventricle	heart
7	chr1:172519200-172559000	Weak transcription	Psoas Muscle	Psoas
8	chr1:172519400-172534600	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:172519400-172535400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:172519400-172571600	Weak transcription	Brain Angular Gyrus	brain
11	chr1:172519600-172538000	Weak transcription	Hela-S3	cervix
12	chr1:172519800-172534200	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:172519800-172539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:172521800-172539800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:172521800-172540400	Strong transcription	Primary B cells from cord blood	blood
16	chr1:172521800-172560400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:172523400-172536200	Strong transcription	Primary hematopoietic stem cells	blood
18	chr1:172524000-172538200	Strong transcription	Dnd41	blood
19	chr1:172524000-172538400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:172524000-172540400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:172524200-172537400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:172524200-172539600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:172524200-172539600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:172524400-172535200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:172524400-172535800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:172524400-172539000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:172524400-172540000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:172524600-172534400	Weak transcription	HSMMtube	muscle
29	chr1:172524600-172539800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:172524800-172540400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:172525000-172536000	Strong transcription	Fetal Thymus	thymus
32	chr1:172525000-172540400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:172525200-172537000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr1:172526200-172540400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:172526400-172535400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:172526400-172536000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr1:172526400-172536200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:172526800-172537000	Weak transcription	Fetal Brain Male	brain
39	chr1:172527000-172539600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr1:172527000-172558000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:172527200-172540000	Weak transcription	Colonic Mucosa	Colon
42	chr1:172527600-172536000	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:172527800-172534000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:172527800-172534200	Weak transcription	Fetal Lung	lung
45	chr1:172527800-172536800	Weak transcription	HMEC	breast
46	chr1:172527800-172550400	Weak transcription	Stomach Mucosa	stomach
47	chr1:172527800-172554600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:172528000-172535000	Weak transcription	Fetal Kidney	kidney
49	chr1:172528000-172537400	Strong transcription	Primary T cells from cord blood	blood
50	chr1:172528200-172534800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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