Variant report

Variant	rs34888351
Chromosome Location	chr4:175211187-175211188
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175207633..175211552-chr4:175211920..175215322,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11929798	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933187	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940726	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11940758	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11942947	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947136	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13101580	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1508222	0.89[EUR][1000 genomes]
rs17357120	0.89[EUR][1000 genomes]
rs1876515	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2332836	0.82[EUR][1000 genomes]
rs34407356	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35332594	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35622584	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4695918	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4695919	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4695920	0.83[AMR][1000 genomes]
rs4695921	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7678305	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34888351	CEP44	cis	Esophagus Muscularis	GTEx
rs34888351	KIAA1712	Cis_1M	lymphoblastoid	RTeQTL
rs34888351	CEP44	cis	Thyroid	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175205600-175214200	Weak transcription	Esophagus	oesophagus
2	chr4:175205600-175241600	Weak transcription	Small Intestine	intestine
3	chr4:175205800-175214200	Weak transcription	Pancreas	Pancrea
4	chr4:175206000-175213000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:175206000-175213000	Weak transcription	Left Ventricle	heart
6	chr4:175206000-175214000	Weak transcription	Psoas Muscle	Psoas
7	chr4:175206000-175214200	Weak transcription	Ovary	ovary
8	chr4:175206000-175235000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:175206200-175212800	Weak transcription	Fetal Thymus	thymus
10	chr4:175206200-175213000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:175206200-175213000	Weak transcription	Colonic Mucosa	Colon
12	chr4:175206200-175213200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr4:175206200-175213200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr4:175206200-175213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:175206200-175214000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:175206200-175214200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:175206200-175214200	Weak transcription	Aorta	Aorta
18	chr4:175206200-175241000	Weak transcription	Right Ventricle	heart
19	chr4:175206400-175213000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:175206400-175213000	Weak transcription	Adipose Nuclei	Adipose
21	chr4:175206400-175213000	Weak transcription	Fetal Stomach	stomach
22	chr4:175206400-175213200	Weak transcription	Fetal Kidney	kidney
23	chr4:175206400-175213400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:175206400-175213800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:175206400-175214000	Weak transcription	HMEC	breast
26	chr4:175206400-175214000	Weak transcription	HSMM	muscle
27	chr4:175206400-175214200	Weak transcription	Thymus	Thymus
28	chr4:175206400-175221800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:175206400-175228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:175206600-175212600	Weak transcription	Primary B cells from cord blood	blood
31	chr4:175206600-175213400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:175206600-175237800	Weak transcription	Osteobl	bone
33	chr4:175206800-175212600	Weak transcription	A549	lung
34	chr4:175206800-175213000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:175206800-175213200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:175206800-175229200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:175206800-175241800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr4:175207000-175211600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:175207000-175212000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:175207000-175213000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:175207000-175213000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:175207000-175213200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:175207000-175213200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr4:175207000-175213400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:175207000-175213600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:175207000-175214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:175207000-175214200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:175207000-175239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:175207000-175240000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr4:175207000-175242000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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