Variant report

Variant	rs59945885
Chromosome Location	chr14:68202133-68202134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10130204	0.84[AFR][1000 genomes]
rs10131022	1.00[EUR][1000 genomes]
rs10133699	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10134763	1.00[EUR][1000 genomes]
rs10135963	1.00[EUR][1000 genomes]
rs10136738	1.00[EUR][1000 genomes]
rs10139064	1.00[EUR][1000 genomes]
rs10139482	1.00[EUR][1000 genomes]
rs10142186	1.00[EUR][1000 genomes]
rs10145923	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10145933	1.00[EUR][1000 genomes]
rs10146242	1.00[EUR][1000 genomes]
rs10147052	1.00[EUR][1000 genomes]
rs10147145	1.00[EUR][1000 genomes]
rs10150532	1.00[EUR][1000 genomes]
rs17104527	1.00[EUR][1000 genomes]
rs17104547	1.00[EUR][1000 genomes]
rs17104587	1.00[EUR][1000 genomes]
rs17104591	1.00[EUR][1000 genomes]
rs17104697	1.00[EUR][1000 genomes]
rs2234512	1.00[EUR][1000 genomes]
rs2295109	1.00[EUR][1000 genomes]
rs2295110	1.00[EUR][1000 genomes]
rs28451245	1.00[EUR][1000 genomes]
rs28556682	1.00[EUR][1000 genomes]
rs28780734	1.00[EUR][1000 genomes]
rs28784083	1.00[EUR][1000 genomes]
rs28817410	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28844401	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34057001	1.00[EUR][1000 genomes]
rs35010674	1.00[EUR][1000 genomes]
rs4272963	1.00[EUR][1000 genomes]
rs4899218	1.00[EUR][1000 genomes]
rs4902492	1.00[EUR][1000 genomes]
rs4902510	1.00[EUR][1000 genomes]
rs4902516	1.00[EUR][1000 genomes]
rs4902522	1.00[EUR][1000 genomes]
rs57023353	1.00[EUR][1000 genomes]
rs57348219	1.00[EUR][1000 genomes]
rs58112975	1.00[EUR][1000 genomes]
rs58952057	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7143223	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7143483	1.00[EUR][1000 genomes]
rs7144698	1.00[EUR][1000 genomes]
rs7145385	1.00[EUR][1000 genomes]
rs7149669	1.00[EUR][1000 genomes]
rs7156195	1.00[EUR][1000 genomes]
rs7157699	1.00[EUR][1000 genomes]
rs7359109	1.00[EUR][1000 genomes]
rs7765	1.00[EUR][1000 genomes]
rs8007916	1.00[EUR][1000 genomes]
rs8009762	1.00[EUR][1000 genomes]
rs8010136	1.00[EUR][1000 genomes]
rs8015609	1.00[EUR][1000 genomes]
rs8018161	1.00[EUR][1000 genomes]
rs8018528	1.00[EUR][1000 genomes]
rs8023116	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:68189800-68213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:68194000-68202200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr14:68196200-68219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:68196800-68214600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:68197200-68214800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:68199400-68203800	Enhancers	Fetal Muscle Leg	muscle
8	chr14:68200400-68202800	Enhancers	Psoas Muscle	Psoas
9	chr14:68200600-68202200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:68200600-68202200	Enhancers	Fetal Muscle Trunk	muscle
11	chr14:68200600-68202800	Enhancers	Left Ventricle	heart
12	chr14:68200600-68202800	Enhancers	Right Atrium	heart
13	chr14:68200600-68202800	Enhancers	Right Ventricle	heart
14	chr14:68200600-68203000	Enhancers	Pancreas	Pancrea
15	chr14:68200600-68205600	Weak transcription	Placenta	Placenta
16	chr14:68200800-68203200	Enhancers	HSMMtube	muscle
17	chr14:68201000-68202800	Weak transcription	Fetal Heart	heart
18	chr14:68201200-68202800	Enhancers	HUVEC	blood vessel
19	chr14:68201200-68203200	Weak transcription	HepG2	liver
20	chr14:68201400-68205600	Weak transcription	HSMM	muscle
21	chr14:68201400-68213400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:68201400-68213600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:68201400-68214600	Weak transcription	Brain Substantia Nigra	brain
24	chr14:68201600-68213200	Weak transcription	Brain Angular Gyrus	brain
25	chr14:68201600-68214600	Weak transcription	Spleen	Spleen
26	chr14:68201800-68202200	Weak transcription	Liver	Liver
27	chr14:68202000-68202400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr14:68202000-68202400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr14:68202000-68202800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr14:68202000-68204600	Enhancers	Stomach Mucosa	stomach

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