Variant report

Variant	rs419630
Chromosome Location	chr14:77710003-77710004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77606518..77608062-chr14:77708276..77710654,2	MCF-7	breast:
2	chr14:77698665..77701683-chr14:77707359..77710603,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177108	Chromatin interaction
ENSG00000269883	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10143567	1.00[CHB][hapmap]
rs1504522	0.90[CEU][hapmap]
rs17750140	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes]
rs2021536	1.00[AFR][1000 genomes]
rs2287380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2540887	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2540895	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes]
rs2540901	1.00[CEU][hapmap]
rs2655976	0.90[CEU][hapmap];0.82[CHB][hapmap];0.86[MEX][hapmap]
rs35069088	0.84[EUR][1000 genomes]
rs35602650	0.84[EUR][1000 genomes]
rs367095	1.00[AFR][1000 genomes]
rs370110	0.84[EUR][1000 genomes]
rs370853	0.84[EUR][1000 genomes]
rs374227	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs376645	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs380489	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs381580	0.84[EUR][1000 genomes]
rs382670	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs382868	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs384204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs386913	0.84[EUR][1000 genomes]
rs391944	0.82[EUR][1000 genomes]
rs392548	0.82[EUR][1000 genomes]
rs396750	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]
rs398269	0.84[EUR][1000 genomes]
rs403602	0.84[EUR][1000 genomes]
rs404418	1.00[AFR][1000 genomes]
rs406472	0.84[EUR][1000 genomes]
rs408089	0.84[EUR][1000 genomes]
rs411965	0.84[EUR][1000 genomes]
rs412737	0.84[EUR][1000 genomes]
rs413481	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs414513	0.82[EUR][1000 genomes]
rs419869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs420661	0.84[EUR][1000 genomes]
rs423656	0.93[EUR][1000 genomes]
rs428868	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs428908	0.82[EUR][1000 genomes]
rs429008	0.84[EUR][1000 genomes]
rs440094	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs451303	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs4903561	1.00[CEU][hapmap]
rs71413450	1.00[AFR][1000 genomes]
rs727921	0.82[CHB][hapmap]
rs750932	1.00[CEU][hapmap]
rs8010477	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs905734	0.90[CEU][hapmap]
rs905735	1.00[AFR][1000 genomes]

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	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
3	nsv1361	chr14:77707417-77753024	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs419630	TMEM63C	cis	Whole Blood	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77686400-77712400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr14:77692800-77712400	Weak transcription	Fetal Intestine Small	intestine
3	chr14:77697600-77726800	Weak transcription	Brain Substantia Nigra	brain
4	chr14:77698400-77720000	Weak transcription	Pancreas	Pancrea
5	chr14:77704800-77719200	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:77705600-77714400	Weak transcription	Brain Anterior Caudate	brain
7	chr14:77707200-77712800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:77707800-77710800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:77708000-77710600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:77708000-77711400	Enhancers	Primary B cells from cord blood	blood
11	chr14:77708000-77711400	Enhancers	Primary hematopoietic stem cells	blood
12	chr14:77708000-77711800	Enhancers	Primary B cells from peripheral blood	blood
13	chr14:77708400-77713400	Strong transcription	Brain Angular Gyrus	brain
14	chr14:77708400-77720600	Strong transcription	Fetal Brain Female	brain
15	chr14:77708600-77710800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr14:77708600-77711000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:77708600-77714800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:77709000-77711400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr14:77709000-77718400	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr14:77709400-77712800	Strong transcription	Esophagus	oesophagus
21	chr14:77709600-77710200	Strong transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:77709600-77711200	Enhancers	Spleen	Spleen
23	chr14:77709800-77711800	Strong transcription	Brain Germinal Matrix	brain
24	chr14:77709800-77729600	Weak transcription	Fetal Brain Male	brain
25	chr14:77710000-77710200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:77710000-77710600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:77710000-77713200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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