Variant report

Variant	rs10395
Chromosome Location	chr16:80632290-80632291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80626642..80629470-chr16:80631893..80634633,3	K562	blood:
2	chr16:80627231..80629470-chr16:80631893..80634633,2	K562	blood:
3	chr16:80623692..80626755-chr16:80631234..80633032,3	MCF-7	breast:
4	chr16:80631139..80633320-chr16:80645177..80647341,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDYL2-1	chr16:80631803-80636416	ENSG00000261128.1

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1452501	0.83[JPT][hapmap]
rs1452502	0.83[JPT][hapmap]
rs1985288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2316156	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2316157	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4281727	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4516240	0.82[EUR][1000 genomes]
rs4622522	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7202869	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7405439	0.84[EUR][1000 genomes]
rs8053414	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9923300	0.84[JPT][hapmap]
rs9923392	0.83[JPT][hapmap]
rs9923760	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9927579	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9936948	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10395	TERF2IP	cis	parietal	SCAN
rs10395	PLCG2	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80619200-80632600	Weak transcription	Hela-S3	cervix
2	chr16:80625400-80645600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:80625600-80636000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr16:80625600-80637800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:80626000-80639800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr16:80626200-80637800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr16:80626200-80640000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:80626200-80640000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr16:80626400-80636800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:80626600-80636600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr16:80626600-80637800	Weak transcription	Liver	Liver
12	chr16:80626800-80645800	Weak transcription	Right Ventricle	heart
13	chr16:80628600-80636400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:80629000-80633000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:80629200-80632600	Weak transcription	NHDF-Ad	bronchial
16	chr16:80629200-80635200	Weak transcription	Placenta	Placenta
17	chr16:80629200-80647600	Weak transcription	NHEK	skin
18	chr16:80630600-80668000	Weak transcription	Fetal Kidney	kidney
19	chr16:80631000-80633000	Weak transcription	HUVEC	blood vessel
20	chr16:80631000-80638000	Weak transcription	Gastric	stomach
21	chr16:80631000-80641400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr16:80631200-80633400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:80631200-80635800	Weak transcription	Fetal Intestine Large	intestine
24	chr16:80631400-80638000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:80632000-80637400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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