Variant report

Variant	rs12783992
Chromosome Location	chr10:99542463-99542464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10748709	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10786373	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10786374	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10882996	0.84[AMR][1000 genomes]
rs10882997	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10882998	0.89[ASN][1000 genomes]
rs11189360	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11189361	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11189362	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11189367	0.81[ASN][1000 genomes]
rs11189374	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11189376	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11189377	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11815012	0.83[ASN][1000 genomes]
rs12412543	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12569711	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12569757	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1556971	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1981237	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1981238	0.83[AMR][1000 genomes]
rs2010732	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2027376	0.85[ASN][1000 genomes]
rs2039826	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34283185	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3750612	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3814559	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3814560	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4244329	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4244330	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4917786	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4919139	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7072751	0.99[ASN][1000 genomes]
rs7080894	0.87[ASN][1000 genomes]
rs7080953	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7081652	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7094519	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7100453	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7478323	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7910589	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7916164	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7916593	0.85[ASN][1000 genomes]
rs7922907	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs883324	0.85[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	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99537000-99545600	Enhancers	Pancreas	Pancrea
2	chr10:99537200-99542600	Enhancers	Fetal Thymus	thymus
3	chr10:99539600-99543200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr10:99539800-99543000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr10:99539800-99543000	Enhancers	K562	blood
6	chr10:99540000-99542600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr10:99540000-99542800	Enhancers	Primary hematopoietic stem cells	blood
8	chr10:99540000-99542800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr10:99540000-99543000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr10:99540000-99543000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:99540200-99542600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr10:99540200-99542800	Enhancers	Fetal Lung	lung
13	chr10:99540200-99543200	Enhancers	NHEK	skin
14	chr10:99540400-99542600	Enhancers	Fetal Brain Male	brain
15	chr10:99540400-99542800	Enhancers	Fetal Muscle Leg	muscle
16	chr10:99540400-99543200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:99540400-99544600	Genic enhancers	Fetal Intestine Small	intestine
18	chr10:99540600-99542800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr10:99540800-99542600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:99540800-99542600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:99540800-99542800	Enhancers	Stomach Mucosa	stomach
22	chr10:99540800-99543000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr10:99540800-99543200	Enhancers	Fetal Heart	heart
24	chr10:99540800-99543200	Enhancers	Left Ventricle	heart
25	chr10:99540800-99545800	Enhancers	HepG2	liver
26	chr10:99541000-99542800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:99541000-99542800	Enhancers	Gastric	stomach
28	chr10:99541000-99548600	Weak transcription	A549	lung
29	chr10:99541200-99542600	Bivalent Enhancer	Fetal Stomach	stomach
30	chr10:99541200-99542600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr10:99541200-99542600	Enhancers	Thymus	Thymus
32	chr10:99541200-99543400	Enhancers	Fetal Intestine Large	intestine
33	chr10:99541400-99546400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:99541600-99542600	Weak transcription	Psoas Muscle	Psoas
35	chr10:99541600-99545000	Weak transcription	HMEC	breast
36	chr10:99541800-99548400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:99541800-99548600	Weak transcription	Right Atrium	heart
38	chr10:99541800-99548800	Weak transcription	Right Ventricle	heart
39	chr10:99542000-99542600	Enhancers	Fetal Muscle Trunk	muscle
40	chr10:99542000-99542800	Enhancers	Primary T cells from cord blood	blood
41	chr10:99542000-99543000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr10:99542000-99543200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr10:99542000-99543800	Weak transcription	Brain Substantia Nigra	brain
44	chr10:99542000-99546200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:99542200-99542800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr10:99542200-99543200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr10:99542200-99543200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:99542200-99543800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr10:99542200-99546000	Weak transcription	Lung	lung
50	chr10:99542400-99542600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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