Variant report

Variant	rs11933187
Chromosome Location	chr4:175209932-175209933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr4:175209827-175210307	K562	blood:	n/a	n/a
2	POLR2A	chr4:175208915-175210506	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175207633..175211552-chr4:175211920..175215322,4	K562	blood:
2	chr4:175203968..175206484-chr4:175206530..175210065,3	MCF-7	breast:

Variant related genes	Relation type
FBXO8	TF binding region
ENSG00000164118	Chromatin interaction
ENSG00000164117	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10034021	1.00[CHB][hapmap]
rs10565	1.00[CHB][hapmap]
rs11555602	1.00[JPT][hapmap]
rs11929798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940726	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11940758	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11942947	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947136	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13101580	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14278	1.00[JPT][hapmap]
rs1508222	0.80[EUR][1000 genomes]
rs17060409	1.00[JPT][hapmap]
rs17060445	1.00[JPT][hapmap]
rs17357120	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs1876515	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs2332836	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes]
rs34407356	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34888351	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35332594	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35622584	0.80[AMR][1000 genomes]
rs4287982	1.00[CHB][hapmap]
rs4695915	0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs4695918	0.83[AMR][1000 genomes]
rs4695919	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4695921	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4695922	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs6553777	0.80[YRI][hapmap]
rs68084371	0.90[AFR][1000 genomes]
rs7678305	0.85[AMR][1000 genomes]
rs7681841	1.00[JPT][hapmap]
rs7692518	1.00[JPT][hapmap]
rs7697587	1.00[JPT][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11933187	CEP44	cis	Esophagus Muscularis	GTEx
rs11933187	KIAA1712	Cis_1M	lymphoblastoid	RTeQTL
rs11933187	KIAA1712	cis	multi-tissue	Pritchard
rs11933187	CEP44	cis	Thyroid	GTEx

Chromatin state (count:71 , 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	chr4:175206200-175210400	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:175206200-175210600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:175206200-175212800	Weak transcription	Fetal Thymus	thymus
12	chr4:175206200-175213000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:175206200-175213000	Weak transcription	Colonic Mucosa	Colon
14	chr4:175206200-175213200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:175206200-175213200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr4:175206200-175213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:175206200-175214000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:175206200-175214200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:175206200-175214200	Weak transcription	Aorta	Aorta
20	chr4:175206200-175241000	Weak transcription	Right Ventricle	heart
21	chr4:175206400-175210200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:175206400-175213000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:175206400-175213000	Weak transcription	Adipose Nuclei	Adipose
24	chr4:175206400-175213000	Weak transcription	Fetal Stomach	stomach
25	chr4:175206400-175213200	Weak transcription	Fetal Kidney	kidney
26	chr4:175206400-175213400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:175206400-175213800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:175206400-175214000	Weak transcription	HMEC	breast
29	chr4:175206400-175214000	Weak transcription	HSMM	muscle
30	chr4:175206400-175214200	Weak transcription	Thymus	Thymus
31	chr4:175206400-175221800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:175206400-175228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:175206600-175212600	Weak transcription	Primary B cells from cord blood	blood
34	chr4:175206600-175213400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:175206600-175237800	Weak transcription	Osteobl	bone
36	chr4:175206800-175212600	Weak transcription	A549	lung
37	chr4:175206800-175213000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:175206800-175213200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:175206800-175229200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:175206800-175241800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:175207000-175211600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:175207000-175212000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:175207000-175213000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:175207000-175213000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:175207000-175213200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:175207000-175213200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr4:175207000-175213400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:175207000-175213600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:175207000-175214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:175207000-175214200	Weak transcription	Rectal Mucosa Donor 29	rectum

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