Variant report

Variant	rs396750
Chromosome Location	chr14:77699483-77699484
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77695351..77697336-chr14:77697780..77699776,2	MCF-7	breast:
2	chr14:77698665..77701683-chr14:77707359..77710603,3	MCF-7	breast:
3	chr14:77665547..77667988-chr14:77698948..77700778,2	K562	blood:
4	chr14:77689098..77690963-chr14:77696988..77699642,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201384	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10143567	1.00[CHB][hapmap]
rs1504522	0.90[CEU][hapmap];0.85[CHB][hapmap]
rs17750140	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs2287380	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs2540885	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2540887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2540895	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs2540901	1.00[CEU][hapmap]
rs2655976	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs35069088	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35602650	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370110	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370853	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380489	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381580	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382033	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs382670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs386266	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs386913	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs388847	1.00[ASW][hapmap];0.94[YRI][hapmap]
rs391944	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392548	0.98[EUR][1000 genomes]
rs398269	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs403602	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404418	0.92[EUR][1000 genomes]
rs406472	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs408089	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411965	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412737	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413481	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs414513	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419630	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs419869	0.84[EUR][1000 genomes]
rs420661	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421146	0.84[ASW][hapmap];0.81[LWK][hapmap];0.82[YRI][hapmap]
rs423656	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4243654	0.82[YRI][hapmap]
rs428599	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs428601	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs428868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs428908	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429008	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs440094	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs451303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903561	1.00[CEU][hapmap]
rs61991632	0.82[AFR][1000 genomes]
rs727921	1.00[CHB][hapmap]
rs750932	1.00[CEU][hapmap]
rs8010477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs905734	0.90[CEU][hapmap];0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
2	chr14:77686400-77712400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:77689400-77702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:77691600-77703000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:77692800-77712400	Weak transcription	Fetal Intestine Small	intestine
6	chr14:77693000-77699800	Weak transcription	Brain Angular Gyrus	brain
7	chr14:77693000-77705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:77694400-77704000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:77696600-77700000	Strong transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:77697400-77700400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:77697600-77704800	Weak transcription	Brain Anterior Caudate	brain
12	chr14:77697600-77726800	Weak transcription	Brain Substantia Nigra	brain
13	chr14:77698400-77720000	Weak transcription	Pancreas	Pancrea
14	chr14:77698600-77705000	Weak transcription	Brain Germinal Matrix	brain
15	chr14:77699000-77700600	Strong transcription	Fetal Brain Female	brain
16	chr14:77699200-77700000	Strong transcription	Brain Inferior Temporal Lobe	brain

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