Variant report

Variant	rs12780534
Chromosome Location	chr10:99551557-99551558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99550812..99553311-chr10:99554248..99556585,2	K562	blood:
2	chr10:99551408..99552738-chr10:99628911..99630531,8	MCF-7	breast:
3	chr10:99551392..99552453-chr10:99628753..99630092,20	MCF-7	breast:
4	chr10:99551429..99551962-chr10:99608505..99609236,2	MCF-7	breast:
5	chr10:99550725..99552245-chr6:30882262..30884722,2	K562	blood:
6	chr10:99551206..99553289-chr10:99627120..99629678,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137411	Chromatin interaction
ENSG00000269783	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10786373	0.85[EUR][1000 genomes]
rs10786374	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10882995	0.80[ASN][1000 genomes]
rs10882996	0.84[ASN][1000 genomes]
rs10882998	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11189352	0.80[ASN][1000 genomes]
rs11189360	0.83[ASN][1000 genomes]
rs11189367	0.83[ASN][1000 genomes]
rs11189374	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11189376	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11189377	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11597378	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12268814	0.82[EUR][1000 genomes]
rs12412543	0.84[ASN][1000 genomes]
rs12569711	0.84[ASN][1000 genomes]
rs12569757	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1981238	0.84[ASN][1000 genomes]
rs2010732	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2039826	0.86[ASN][1000 genomes]
rs3750615	0.80[ASN][1000 genomes]
rs4244330	0.86[ASN][1000 genomes]
rs4917786	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7094519	0.83[ASN][1000 genomes]
rs7099540	0.83[ASN][1000 genomes]
rs7100453	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7478323	0.86[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99548800-99556400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr10:99549000-99555000	Weak transcription	Left Ventricle	heart
3	chr10:99549200-99551600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:99549200-99552000	Enhancers	K562	blood
5	chr10:99549200-99552800	Weak transcription	Right Atrium	heart
6	chr10:99549400-99551800	Enhancers	Fetal Intestine Large	intestine
7	chr10:99549400-99551800	Enhancers	Fetal Intestine Small	intestine
8	chr10:99549800-99553600	Enhancers	Pancreas	Pancrea
9	chr10:99550000-99551600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr10:99550000-99552000	Weak transcription	Fetal Thymus	thymus
11	chr10:99550800-99551600	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr10:99550800-99551800	Enhancers	Gastric	stomach
13	chr10:99551000-99551800	Enhancers	A549	lung
14	chr10:99551200-99552000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr10:99551200-99552200	Enhancers	Duodenum Mucosa	Duodenum
16	chr10:99551400-99551800	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr10:99551400-99552200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:99551400-99552400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr10:99551400-99552600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:99551400-99552600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr10:99551400-99552600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr10:99551400-99552600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:99551400-99553000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr10:99551400-99553400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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