Variant report

Variant	rs4905564
Chromosome Location	chr14:97365090-97365091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97361735..97363955-chr14:97364281..97368470,3	K562	blood:
2	chr14:97355083..97357318-chr14:97362370..97365310,3	K562	blood:
3	chr14:97363505..97366483-chr14:97366904..97369022,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10131201	0.83[ASN][1000 genomes]
rs10145383	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10146571	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10149107	0.82[ASN][1000 genomes]
rs10873476	0.89[ASN][1000 genomes]
rs11160369	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11160375	0.89[ASN][1000 genomes]
rs11628733	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs12433112	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12434466	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs12589919	0.90[CHB][hapmap]
rs12878184	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12882853	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12894621	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs12897588	0.90[CHB][hapmap]
rs1951311	0.82[ASN][1000 genomes]
rs1951312	0.85[ASN][1000 genomes]
rs1957137	0.83[ASN][1000 genomes]
rs2145636	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs2180896	0.82[ASN][1000 genomes]
rs2224442	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2230532	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4270096	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4900346	0.90[CHB][hapmap]
rs4900350	0.90[CHB][hapmap]
rs4900351	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4900353	1.00[CHB][hapmap]
rs4905547	0.82[ASN][1000 genomes]
rs4905548	0.90[CHB][hapmap]
rs4905551	1.00[CHB][hapmap]
rs4905552	0.82[ASN][1000 genomes]
rs4905553	0.82[ASN][1000 genomes]
rs4905555	0.81[ASN][1000 genomes]
rs4905558	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4905560	0.85[ASN][1000 genomes]
rs4905568	0.97[ASN][1000 genomes]
rs61981027	0.82[ASN][1000 genomes]
rs7156355	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs723810	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs736929	1.00[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs749279	1.00[CHB][hapmap]
rs764300	0.90[CHB][hapmap]
rs8013081	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs8016614	0.85[ASN][1000 genomes]
rs9323954	0.82[ASN][1000 genomes]
rs9323955	0.90[CHB][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	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948620	chr14:97334444-98133191	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4905564	BTBD7	cis	parietal	SCAN
rs4905564	VRK1	cis	parietal	SCAN
rs4905564	VRK1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97303400-97371600	Weak transcription	Ovary	ovary
2	chr14:97331000-97378400	Weak transcription	A549	lung
3	chr14:97342800-97367000	Weak transcription	NHEK	skin
4	chr14:97347000-97368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:97349200-97367200	Weak transcription	Primary B cells from cord blood	blood
6	chr14:97349200-97367600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:97349200-97377400	Weak transcription	Primary T cells from cord blood	blood
8	chr14:97349400-97369200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr14:97356000-97376600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:97361400-97374000	Weak transcription	Pancreas	Pancrea
11	chr14:97361600-97370400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:97361800-97367800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:97362200-97367800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:97362600-97374800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:97362800-97366800	Weak transcription	Thymus	Thymus
16	chr14:97363000-97366600	Weak transcription	GM12878-XiMat	blood
17	chr14:97364000-97373000	Weak transcription	K562	blood
18	chr14:97364400-97366800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr14:97364600-97366600	Strong transcription	Dnd41	blood
20	chr14:97365000-97365800	Enhancers	Fetal Heart	heart

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