Variant report

Variant	rs2269308
Chromosome Location	chr14:65244950-65244951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65243489..65248143-chr14:65249135..65251495,4	K562	blood:
2	chr14:65231204..65233670-chr14:65243872..65245658,2	MCF-7	breast:
3	chr14:65236406..65238407-chr14:65243538..65245205,2	MCF-7	breast:
4	chr14:65242147..65244989-chr14:65249995..65252297,2	K562	blood:
5	chr14:65240103..65245460-chr14:65248143..65253609,8	MCF-7	breast:
6	chr14:65240846..65242521-chr14:65243960..65245791,2	K562	blood:
7	chr14:65234409..65236355-chr14:65242728..65245039,2	K562	blood:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11622171	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11622977	0.90[CEU][hapmap]
rs11623956	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs12433436	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12434874	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12437062	0.89[ASN][1000 genomes]
rs17102053	0.91[CEU][hapmap]
rs17102216	1.00[CHB][hapmap]
rs17180217	0.91[CEU][hapmap]
rs17180252	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17180350	0.83[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17180497	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs17180616	0.83[CEU][hapmap]
rs17767466	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1875054	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2269305	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2269306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277504	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs229597	0.91[CEU][hapmap]
rs229598	1.00[CHB][hapmap]
rs229637	1.00[ASN][1000 genomes]
rs34652654	0.89[ASN][1000 genomes]
rs34998268	0.89[ASN][1000 genomes]
rs3742601	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs3759682	1.00[CHB][hapmap]
rs4899144	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4899145	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs4902309	1.00[CEU][hapmap];1.00[MEX][hapmap];0.83[AFR][1000 genomes]
rs4902310	1.00[CEU][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs4902311	1.00[CEU][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs4902312	1.00[CEU][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs4902313	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs4902314	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56797122	0.89[ASN][1000 genomes]
rs59809348	1.00[ASN][1000 genomes]
rs61151699	0.89[ASN][1000 genomes]
rs7141792	0.91[CEU][hapmap]
rs7142689	0.91[CEU][hapmap]
rs7157344	0.89[CEU][hapmap]
rs7157527	0.91[CEU][hapmap]
rs7158780	0.91[CEU][hapmap]
rs747858	0.89[AMR][1000 genomes]
rs911002	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.89[AMR][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	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	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	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:35 , 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	chr14:65232000-65246000	Weak transcription	Pancreas	Pancrea
7	chr14:65232200-65274200	Weak transcription	Gastric	stomach
8	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
9	chr14:65240200-65245600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:65240400-65262800	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:65242000-65251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:65242200-65250400	Weak transcription	Brain Germinal Matrix	brain
13	chr14:65242400-65252600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:65242600-65248800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:65243600-65246800	Enhancers	Right Atrium	heart
16	chr14:65243600-65247000	Enhancers	Fetal Heart	heart
17	chr14:65243800-65245600	Enhancers	Stomach Smooth Muscle	stomach
18	chr14:65243800-65246800	Enhancers	Left Ventricle	heart
19	chr14:65243800-65247000	Enhancers	Right Ventricle	heart
20	chr14:65244200-65245800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:65244200-65245800	Enhancers	Spleen	Spleen
22	chr14:65244200-65246400	Genic enhancers	Fetal Muscle Leg	muscle
23	chr14:65244400-65245000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr14:65244400-65246200	Weak transcription	K562	blood
25	chr14:65244400-65247000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
26	chr14:65244600-65245200	Enhancers	HSMMtube	muscle
27	chr14:65244600-65245400	Enhancers	Fetal Stomach	stomach
28	chr14:65244600-65245600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr14:65244600-65246600	Enhancers	Liver	Liver
30	chr14:65244800-65245000	Enhancers	GM12878-XiMat	blood
31	chr14:65244800-65245200	Enhancers	Adipose Nuclei	Adipose
32	chr14:65244800-65245200	Strong transcription	Fetal Brain Female	brain
33	chr14:65244800-65245400	Enhancers	Fetal Lung	lung
34	chr14:65244800-65246800	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain

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