Variant report

Variant	rs10014145
Chromosome Location	chr4:103200577-103200578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs151405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170871	1.00[CHB][hapmap]
rs233817	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233821	1.00[CHB][hapmap]
rs233822	0.95[ASN][1000 genomes]
rs233825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233827	0.88[CHB][hapmap]
rs233829	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs448195	0.86[CHB][hapmap];0.85[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869164	chr4:102483189-103213842	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv428447	chr4:103103730-103262107	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008680	chr4:103153709-103206555	Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1011868	chr4:103158581-103206555	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv999012	chr4:103162076-103206555	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1014733	chr4:103174196-103206240	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1002129	chr4:103174196-103206555	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1013313	chr4:103175700-103206555	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1003825	chr4:103179197-103206555	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv998689	chr4:103179788-103206555	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10014145	CENPE	cis	cerebellum	SCAN
rs10014145	SLC39A8	cis	multi-tissue	Pritchard

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103179200-103202200	Weak transcription	Lung	lung
2	chr4:103179400-103221000	Weak transcription	K562	blood
3	chr4:103181600-103210800	Weak transcription	Liver	Liver
4	chr4:103181800-103230400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:103182000-103255400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:103183400-103210600	Weak transcription	Primary B cells from cord blood	blood
7	chr4:103184200-103220600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:103184600-103201000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:103186600-103229600	Weak transcription	Pancreas	Pancrea
10	chr4:103186800-103216800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:103187200-103229400	Weak transcription	Fetal Thymus	thymus
12	chr4:103189000-103216800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:103189200-103211200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:103189200-103225400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:103189400-103218600	Weak transcription	Placenta	Placenta
16	chr4:103189800-103200600	Weak transcription	Dnd41	blood
17	chr4:103189800-103232400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:103192800-103206000	Weak transcription	Colonic Mucosa	Colon
19	chr4:103193400-103203000	Weak transcription	Hela-S3	cervix
20	chr4:103193800-103209600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:103195000-103205400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:103196200-103242400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:103198000-103206800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:103199400-103221000	Weak transcription	Ovary	ovary
25	chr4:103200200-103201400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:103200400-103200800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:103200400-103201000	ZNF genes & repeats	GM12878-XiMat	blood
28	chr4:103200400-103201400	Strong transcription	Primary T cells from cord blood	blood
29	chr4:103200400-103201400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr4:103200400-103201400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr4:103200400-103201400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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