Variant report

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

rs_ID	r²[population]
rs10139152	1.00[JPT][hapmap]
rs10151794	1.00[JPT][hapmap]
rs10498550	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586298	1.00[JPT][hapmap]
rs12587844	1.00[YRI][hapmap]
rs12588700	1.00[JPT][hapmap]
rs12588767	1.00[JPT][hapmap]
rs12589097	0.83[AFR][1000 genomes]
rs17110868	1.00[JPT][hapmap]
rs17111040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111069	1.00[ASW][hapmap];1.00[JPT][hapmap]
rs1992972	1.00[YRI][hapmap]
rs2371333	1.00[YRI][hapmap]
rs2371415	1.00[JPT][hapmap]
rs2596107	1.00[YRI][hapmap]
rs73342556	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8005643	1.00[YRI][hapmap]
rs8016670	1.00[JPT][hapmap]
rs8016841	1.00[JPT][hapmap]
rs8022894	1.00[YRI][hapmap]
rs936579	1.00[YRI][hapmap]
rs977614	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1035295	chr14:81180999-81236636	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12586869	MEST	trans	lymphoblastoid	seeQTL
rs12586869	ESRRB	cis	cerebellum	SCAN
rs12586869	TMED8	cis	cerebellum	SCAN
rs12586869	C14orf178	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81182000-81206400	Weak transcription	Fetal Thymus	thymus
2	chr14:81182800-81224600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:81185600-81208600	Weak transcription	Thymus	Thymus
4	chr14:81185800-81221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:81192800-81221000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
7	chr14:81193000-81220800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:81193600-81209000	Weak transcription	HSMM	muscle
9	chr14:81195400-81223000	Weak transcription	Pancreas	Pancrea
10	chr14:81197400-81212800	Weak transcription	A549	lung
11	chr14:81198200-81220000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr14:81199800-81248600	Weak transcription	Primary T cells from cord blood	blood
13	chr14:81200400-81211000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:81202800-81207000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:81203400-81204600	Weak transcription	Dnd41	blood
16	chr14:81203800-81229000	Weak transcription	Left Ventricle	heart

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