Variant report

Variant	rs2367288
Chromosome Location	chr4:74714098-74714099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:74714063-74714113	AoSMC	blood vessel:	n/a
2	chr4:74714063-74714113	ovcar-3	ovarian:	n/a
3	chr4:74714063-74714113	U87	brain:	n/a
4	chr4:74714063-74714113	BE2_C	brain:	n/a
5	chr4:74714063-74714113	HNPCEpiC	eye:	n/a
6	chr4:74714063-74714113	GM12892	blood:	n/a
7	chr4:74714063-74714113	GM12891	blood:	n/a
8	chr4:74714063-74714113	Caco-2	colon:	n/a
9	chr4:74714063-74714113	HL-60	blood:	n/a
10	chr4:74714063-74714113	GM06990	blood:	n/a
11	chr4:74714063-74714113	IMR90	lung:	fetal
12	chr4:74714063-74714113	HCF	heart:	n/a
13	chr4:74714063-74714113	AG10803	skin:	n/a
14	chr4:74714063-74714113	NB4	blood:	n/a
15	chr4:74714063-74714113	GM19239	blood:	n/a
16	chr4:74714063-74714113	HRCEpiC	kidney:	n/a
17	chr4:74714063-74714113	Hepatocyte	liver:	n/a
18	chr4:74714063-74714113	HEK293	kidney:	embryo
19	chr4:74714063-74714113	Jurkat	blood:	n/a
20	chr4:74714063-74714113	PFSK-1	brain:	n/a
21	chr4:74714063-74714113	PANC-1	pancreas:	n/a
22	chr4:74714063-74714113	AG09319	gingival:	n/a
23	chr4:74714063-74714113	HCT-116	colon:	n/a
24	chr4:74714063-74714113	HIPEpiC	eye:	n/a
25	chr4:74714063-74714113	T-47D	breast:	n/a
26	chr4:74714063-74714113	PrEC	prostate:	n/a
27	chr4:74714063-74714113	CMK	blood:	n/a
28	chr4:74714063-74714113	LNCaP	prostate:	n/a
29	chr4:74714063-74714113	SK-N-SH_RA	brain:	n/a
30	chr4:74714063-74714113	RPTEC	kidney:	n/a
31	chr4:74714063-74714113	NH-A	brain:	n/a
32	chr4:74714063-74714113	H1-hESC	embryonic stem cell:	embryo
33	chr4:74714063-74714113	A549	lung:	n/a
34	chr4:74714063-74714113	HCM	heart:	n/a
35	chr4:74714063-74714113	MCF-7	breast:	n/a
36	chr4:74714063-74714113	HCPEpiC	choroid plexus:	n/a
37	chr4:74714063-74714113	HAEpiC	amniotic membrane:	n/a
38	chr4:74714063-74714113	HepG2	liver:	n/a
39	chr4:74714063-74714113	AG04450	lung:	fetal
40	chr4:74714063-74714113	K562	blood:	n/a
41	chr4:74714063-74714113	HPAEpiC	pulmonary alveolar:	n/a
42	chr4:74714063-74714113	ECC-1	luminal epithelium:	n/a
43	chr4:74714063-74714113	SK-N-SH	brain:	n/a
44	chr4:74714063-74714113	SAEC	small airway:	n/a
45	chr4:74714063-74714113	HRE	kidney:	n/a
46	chr4:74714063-74714113	SK-N-MC	brain:	n/a
47	chr4:74714063-74714113	NHBE	bronchial:	n/a
48	chr4:74714063-74714113	HRPEpiC	eye:	n/a
49	chr4:74714063-74714113	GM12878	blood:	n/a
50	chr4:74714063-74714113	HMEC	breast:	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PF4V1-1	chr4:74714034-74714105	NONHSAT096872

No data

Variant related genes	Relation type
PF4V1	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2367289	0.83[CHD][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.83[AMR][1000 genomes]
rs6815457	0.81[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7658970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs941757	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs941758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2367288	BTC	cis	cerebellum	SCAN
rs2367288	ANKRD56	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74706600-74719000	Weak transcription	Pancreas	Pancrea
2	chr4:74710800-74718600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:74710800-74718800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:74711200-74718800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:74711400-74718800	Weak transcription	HMEC	breast
6	chr4:74712600-74715800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr4:74713400-74714200	Enhancers	Primary B cells from cord blood	blood
8	chr4:74713400-74715600	Enhancers	Liver	Liver
9	chr4:74713800-74718600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:74714000-74718200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr4:74714000-74718600	Weak transcription	Primary monocytes fromperipheralblood	blood

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