Variant report

Variant	rs12732557
Chromosome Location	chr1:94043943-94043944
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94030537..94032103-chr1:94042791..94044615,2	K562	blood:
2	chr1:94037767..94040487-chr1:94043480..94046284,2	K562	blood:
3	chr1:93913686..93915312-chr1:94043814..94045583,2	MCF-7	breast:
4	chr1:94042226..94044912-chr1:94048849..94050610,3	MCF-7	breast:
5	chr1:94043354..94045487-chr1:94047410..94050029,2	K562	blood:

Variant related genes	Relation type
ENSG00000137942	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11576435	1.00[ASN][1000 genomes]
rs11577352	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579004	1.00[ASN][1000 genomes]
rs11579685	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580965	1.00[ASN][1000 genomes]
rs11588860	1.00[ASN][1000 genomes]
rs12066343	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073093	1.00[ASN][1000 genomes]
rs12090736	1.00[ASN][1000 genomes]
rs12739747	1.00[ASN][1000 genomes]
rs12740779	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744941	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12757325	1.00[ASN][1000 genomes]
rs12760092	1.00[ASN][1000 genomes]
rs17110063	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110101	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110111	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110225	1.00[ASN][1000 genomes]
rs17110370	1.00[ASN][1000 genomes]
rs1877603	1.00[ASN][1000 genomes]
rs1877604	1.00[ASN][1000 genomes]
rs1891138	1.00[ASN][1000 genomes]
rs2818163	1.00[ASN][1000 genomes]
rs34183660	1.00[ASN][1000 genomes]
rs34423897	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34663884	1.00[ASN][1000 genomes]
rs34666525	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34726063	1.00[ASN][1000 genomes]
rs35126293	1.00[ASN][1000 genomes]
rs35691338	1.00[ASN][1000 genomes]
rs35896714	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35972761	1.00[ASN][1000 genomes]
rs36115605	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3950119	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59996315	1.00[ASN][1000 genomes]
rs61780979	1.00[ASN][1000 genomes]
rs61780999	1.00[ASN][1000 genomes]
rs6660968	1.00[ASN][1000 genomes]
rs6666778	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677770	1.00[ASN][1000 genomes]
rs6679609	1.00[ASN][1000 genomes]
rs6683296	1.00[ASN][1000 genomes]
rs66966060	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67043929	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67300695	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67354439	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67511232	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71652539	1.00[ASN][1000 genomes]
rs72721041	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511890	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514579	0.82[EUR][1000 genomes]
rs7525880	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531106	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543098	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543734	0.97[EUR][1000 genomes]
rs7543763	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553185	1.00[ASN][1000 genomes]
rs7555302	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761802	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:94020800-94050600	Weak transcription	Fetal Thymus	thymus
3	chr1:94022200-94044200	Weak transcription	Small Intestine	intestine
4	chr1:94024000-94044200	Strong transcription	HSMM	muscle
5	chr1:94025400-94049400	Strong transcription	Hela-S3	cervix
6	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
7	chr1:94030200-94046400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr1:94031200-94047800	Weak transcription	GM12878-XiMat	blood
9	chr1:94031800-94052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:94032000-94053600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:94032200-94045200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:94033000-94050000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:94033400-94044800	Weak transcription	Right Atrium	heart
14	chr1:94033400-94045000	Strong transcription	NHLF	lung
15	chr1:94033400-94045000	Strong transcription	Osteobl	bone
16	chr1:94033600-94044000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr1:94035000-94044200	Strong transcription	Stomach Smooth Muscle	stomach
18	chr1:94035200-94044600	Strong transcription	Lung	lung
19	chr1:94035200-94045200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:94036200-94044800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:94036400-94048600	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:94038000-94044000	Weak transcription	Esophagus	oesophagus
23	chr1:94038400-94047800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:94038400-94054000	Weak transcription	Brain Substantia Nigra	brain
25	chr1:94038400-94054800	Weak transcription	Brain Angular Gyrus	brain
26	chr1:94038600-94051800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:94038600-94054200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:94038800-94044000	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:94040000-94045600	Genic enhancers	Fetal Muscle Leg	muscle
30	chr1:94040000-94045800	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr1:94040000-94055000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:94040200-94044800	Weak transcription	Right Ventricle	heart
33	chr1:94040400-94046000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:94040400-94046000	Genic enhancers	Placenta	Placenta
35	chr1:94040800-94044000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:94040800-94047400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:94041000-94045000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:94041000-94045800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:94041000-94049400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:94041200-94046000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:94041200-94046200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:94041200-94048800	Genic enhancers	HMEC	breast
43	chr1:94041400-94044600	Weak transcription	Fetal Intestine Large	intestine
44	chr1:94041400-94046600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:94041600-94044600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:94041600-94044800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:94041600-94045000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:94041600-94045400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:94041800-94045400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:94041800-94047000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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