Variant report

Variant	rs1741486
Chromosome Location	chr14:65246006-65246007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65243489..65248143-chr14:65249135..65251495,4	K562	blood:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1626923	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1695764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170684	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1741485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1741487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1741488	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1741489	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs229629	0.83[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs229635	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs229638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229640	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229641	0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs229642	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229643	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2357726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884253	0.90[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56361624	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573568	0.81[ASN][1000 genomes]
rs77806	0.90[YRI][hapmap]
rs8017466	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902025	chr14:65229364-65246181	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65229600-65246200	Weak transcription	Psoas Muscle	Psoas
3	chr14:65231600-65250600	Weak transcription	Brain Angular Gyrus	brain
4	chr14:65231600-65250600	Weak transcription	Brain Anterior Caudate	brain
5	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:65232200-65274200	Weak transcription	Gastric	stomach
7	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
8	chr14:65240400-65262800	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:65242000-65251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:65242200-65250400	Weak transcription	Brain Germinal Matrix	brain
11	chr14:65242400-65252600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:65242600-65248800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:65243600-65246800	Enhancers	Right Atrium	heart
14	chr14:65243600-65247000	Enhancers	Fetal Heart	heart
15	chr14:65243800-65246800	Enhancers	Left Ventricle	heart
16	chr14:65243800-65247000	Enhancers	Right Ventricle	heart
17	chr14:65244200-65246400	Genic enhancers	Fetal Muscle Leg	muscle
18	chr14:65244400-65246200	Weak transcription	K562	blood
19	chr14:65244400-65247000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:65244600-65246600	Enhancers	Liver	Liver
21	chr14:65244800-65246800	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:65245200-65248800	Weak transcription	Fetal Brain Female	brain
24	chr14:65245200-65257600	Weak transcription	HSMMtube	muscle
25	chr14:65245600-65246600	Strong transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:65245800-65246200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:65245800-65246200	Weak transcription	Spleen	Spleen
28	chr14:65245800-65247000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr14:65246000-65246600	Enhancers	Pancreas	Pancrea

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