Variant report

Variant	rs2238258
Chromosome Location	chr14:72596454-72596455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10132446	0.91[ASN][1000 genomes]
rs10483842	1.00[CEU][hapmap]
rs17107761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17107779	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17108326	1.00[JPT][hapmap]
rs17179637	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17179664	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs17179734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17179797	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17179811	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17768774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17768889	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs60637119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61293752	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574048	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7148742	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7151047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74060670	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74060672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74060673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv902076	chr14:72565656-72632217	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv902077	chr14:72576679-72632217	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv902078	chr14:72581575-72628433	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv902079	chr14:72583802-72632217	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv902080	chr14:72587872-72632217	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72584200-72600600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72592400-72600400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72594600-72597200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr14:72595200-72596600	Enhancers	Colon Smooth Muscle	Colon
5	chr14:72595400-72596800	Enhancers	Gastric	stomach
6	chr14:72595400-72596800	Enhancers	Lung	lung
7	chr14:72595400-72596800	Enhancers	Rectal Smooth Muscle	rectum
8	chr14:72595800-72596600	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr14:72595800-72596800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:72596000-72597200	Enhancers	Primary hematopoietic stem cells	blood
11	chr14:72596000-72597200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:72596200-72596600	Enhancers	Fetal Muscle Leg	muscle
13	chr14:72596200-72596800	Enhancers	Adipose Nuclei	Adipose
14	chr14:72596200-72596800	Enhancers	Fetal Stomach	stomach
15	chr14:72596200-72597000	Enhancers	Stomach Smooth Muscle	stomach
16	chr14:72596200-72597200	Enhancers	Right Ventricle	heart
17	chr14:72596400-72596800	Enhancers	Left Ventricle	heart
18	chr14:72596400-72597800	Enhancers	Pancreas	Pancrea

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