Variant report

Variant	rs12420134
Chromosome Location	chr11:16260861-16260862
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16254762..16258115-chr11:16260794..16264082,4	K562	blood:
2	chr11:16251614..16253946-chr11:16259376..16260960,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11023926	1.00[ASN][1000 genomes]
rs12417996	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418276	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418887	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420808	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791361	0.91[AFR][1000 genomes]
rs12800654	0.91[AFR][1000 genomes]
rs1437635	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932966	1.00[ASN][1000 genomes]
rs17461712	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17538814	0.91[AFR][1000 genomes]
rs17552977	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17553733	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1827535	1.00[ASN][1000 genomes]
rs1975299	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118362	1.00[ASN][1000 genomes]
rs34281980	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34866095	1.00[ASN][1000 genomes]
rs35603256	1.00[ASN][1000 genomes]
rs61881676	0.83[AFR][1000 genomes]
rs61881739	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881740	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881741	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881743	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881745	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883178	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883179	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883180	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883181	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883182	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883184	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883185	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883187	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883197	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109139	1.00[ASN][1000 genomes]
rs7109376	1.00[ASN][1000 genomes]
rs7127006	1.00[ASN][1000 genomes]
rs722747	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869952	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929530	1.00[ASN][1000 genomes]
rs7933830	1.00[ASN][1000 genomes]
rs7936866	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931774	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv897012	chr11:16189326-16283644	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv897013	chr11:16206658-16307700	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv897014	chr11:16211343-16283644	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv467710	chr11:16219341-16266740	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv553564	chr11:16219341-16266740	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv553565	chr11:16220289-16307700	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv897015	chr11:16235962-16307700	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16248200-16274200	Weak transcription	Pancreas	Pancrea
2	chr11:16256200-16272000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:16258600-16264200	Enhancers	Fetal Heart	heart
4	chr11:16260200-16261000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr11:16260400-16261600	Enhancers	Fetal Brain Female	brain
6	chr11:16260400-16262000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:16260600-16261000	Active TSS	Right Atrium	heart
8	chr11:16260600-16261200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:16260600-16261200	Flanking Active TSS	K562	blood
10	chr11:16260600-16261400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:16260600-16261400	Enhancers	Brain Germinal Matrix	brain
12	chr11:16260600-16261400	Enhancers	Fetal Stomach	stomach
13	chr11:16260600-16261400	Enhancers	Left Ventricle	heart
14	chr11:16260600-16261400	Enhancers	NHLF	lung
15	chr11:16260600-16261600	Enhancers	Fetal Lung	lung
16	chr11:16260800-16261000	Enhancers	Colon Smooth Muscle	Colon
17	chr11:16260800-16261200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr11:16260800-16261200	Flanking Active TSS	Psoas Muscle	Psoas
19	chr11:16260800-16261200	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr11:16260800-16261200	Active TSS	HSMMtube	muscle
21	chr11:16260800-16261400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:16260800-16261400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:16260800-16261400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr11:16260800-16261400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:16260800-16261600	Enhancers	Fetal Muscle Leg	muscle
26	chr11:16260800-16262400	Enhancers	Fetal Brain Male	brain

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