Variant report

Variant	rs4902312
Chromosome Location	chr14:65242125-65242126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65240846..65242521-chr14:65243960..65245791,2	K562	blood:
2	chr14:65235455..65238198-chr14:65239523..65242367,2	K562	blood:
3	chr14:65240103..65245460-chr14:65248143..65253609,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11622977	0.90[CEU][hapmap]
rs11623956	1.00[CEU][hapmap]
rs12433745	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17102053	0.91[CEU][hapmap]
rs17102318	1.00[JPT][hapmap]
rs17180217	0.91[CEU][hapmap]
rs17180252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17180350	0.91[CEU][hapmap];0.89[AMR][1000 genomes]
rs17180497	1.00[CEU][hapmap]
rs17180616	0.83[CEU][hapmap]
rs17767466	1.00[CEU][hapmap]
rs2182034	1.00[JPT][hapmap]
rs2269305	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes]
rs2269306	1.00[CEU][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs2269307	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs2269308	1.00[CEU][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs229597	0.91[CEU][hapmap]
rs229598	1.00[CHB][hapmap]
rs4899144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902309	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902310	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902311	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902313	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902314	1.00[CEU][hapmap]
rs7141792	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs7142689	0.91[CEU][hapmap]
rs7157344	0.89[CEU][hapmap]
rs7157527	0.91[CEU][hapmap]
rs7157684	1.00[CHB][hapmap]
rs7158780	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs747858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	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
6	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:26 , 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	chr14:65231600-65242400	Strong transcription	Right Ventricle	heart
4	chr14:65231600-65244000	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:65231600-65244400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:65231600-65250600	Weak transcription	Brain Angular Gyrus	brain
7	chr14:65231600-65250600	Weak transcription	Brain Anterior Caudate	brain
8	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:65232000-65246000	Weak transcription	Pancreas	Pancrea
10	chr14:65232200-65244600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:65232200-65274200	Weak transcription	Gastric	stomach
12	chr14:65232600-65242600	Strong transcription	K562	blood
13	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
14	chr14:65233600-65242400	Strong transcription	Left Ventricle	heart
15	chr14:65237000-65242600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:65237400-65242400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr14:65239200-65242400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:65239800-65242200	ZNF genes & repeats	Brain Germinal Matrix	brain
19	chr14:65240000-65243600	Weak transcription	Fetal Heart	heart
20	chr14:65240200-65245600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:65240400-65262800	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:65240600-65244200	Strong transcription	Fetal Muscle Leg	muscle
23	chr14:65241400-65244200	Weak transcription	Spleen	Spleen
24	chr14:65241400-65244800	Weak transcription	Fetal Brain Female	brain
25	chr14:65242000-65242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:65242000-65251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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