Variant report

Variant	rs1134634
Chromosome Location	chr4:15603069-15603070
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15596072..15598692-chr4:15601945..15604547,2	K562	blood:
2	chr4:15601993..15603874-chr4:15609109..15611454,2	K562	blood:
3	chr4:15596072..15599321-chr4:15600481..15604583,5	K562	blood:

Variant related genes	Relation type
ENSG00000048342	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10003739	0.91[ASN][1000 genomes]
rs10008875	0.84[ASN][1000 genomes]
rs10008889	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10012838	0.87[ASN][1000 genomes]
rs10020408	0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10022610	0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs10025837	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10026851	0.91[ASN][1000 genomes]
rs10030313	0.84[ASN][1000 genomes]
rs10031017	0.88[ASN][1000 genomes]
rs10034328	0.91[ASN][1000 genomes]
rs10939621	1.00[CHB][hapmap]
rs10939628	0.89[ASN][1000 genomes]
rs11932730	1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs11933521	0.84[ASN][1000 genomes]
rs11939541	0.85[ASN][1000 genomes]
rs11943107	0.87[ASN][1000 genomes]
rs11945626	0.86[ASN][1000 genomes]
rs12509029	0.85[ASN][1000 genomes]
rs12640192	1.00[CHB][hapmap];0.80[CHD][hapmap];0.85[JPT][hapmap]
rs12644327	0.85[ASN][1000 genomes]
rs12645849	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs12649803	1.00[CHB][hapmap]
rs13116304	1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.81[MKK][hapmap];0.83[YRI][hapmap];0.87[ASN][1000 genomes]
rs13121363	0.87[ASN][1000 genomes]
rs13142069	0.86[ASN][1000 genomes]
rs1473166	0.86[ASN][1000 genomes]
rs16892140	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs16892141	0.85[JPT][hapmap]
rs16892152	0.95[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2041671	0.95[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2160044	0.95[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2302467	0.84[CEU][hapmap];0.91[MEX][hapmap]
rs28522268	0.92[ASN][1000 genomes]
rs28528670	0.89[ASN][1000 genomes]
rs28534607	0.86[ASN][1000 genomes]
rs28661857	0.88[ASN][1000 genomes]
rs3822298	0.86[ASN][1000 genomes]
rs4235380	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs4280723	0.87[ASN][1000 genomes]
rs4280724	0.87[ASN][1000 genomes]
rs4393989	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs4583752	1.00[CHB][hapmap];0.83[CHD][hapmap];0.80[JPT][hapmap]
rs4591601	0.91[ASN][1000 genomes]
rs4698117	0.89[ASN][1000 genomes]
rs4698403	0.91[ASN][1000 genomes]
rs4698405	0.88[ASN][1000 genomes]
rs4698408	1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs56041141	0.92[ASN][1000 genomes]
rs60813847	0.84[ASN][1000 genomes]
rs62290605	0.84[ASN][1000 genomes]
rs6449146	1.00[CHB][hapmap]
rs6449147	1.00[CHB][hapmap]
rs6449149	0.86[ASN][1000 genomes]
rs6831286	0.86[ASN][1000 genomes]
rs6839438	0.87[ASN][1000 genomes]
rs73125606	0.85[ASN][1000 genomes]
rs73127647	0.86[ASN][1000 genomes]
rs7377825	0.84[ASN][1000 genomes]
rs741180	0.87[ASN][1000 genomes]
rs759212	1.00[CHB][hapmap]
rs7661102	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs7665390	1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7665915	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7682586	1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs7684446	0.84[ASN][1000 genomes]
rs7687010	0.85[ASN][1000 genomes]
rs7697314	0.91[CHB][hapmap]
rs872678	1.00[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs9996452	0.95[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1134634	FBXL5	cis	multi-tissue	Pritchard
rs1134634	LOC285550	cis	multi-tissue	Pritchard
rs1134634	CC2D2A	cis	parietal	SCAN
rs1134634	BST1	cis	multi-tissue	Pritchard
rs1134634	CPEB2	cis	cerebellum	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15537400-15621000	Weak transcription	Hela-S3	cervix
2	chr4:15550000-15617800	Weak transcription	Thymus	Thymus
3	chr4:15556000-15603200	Weak transcription	Fetal Thymus	thymus
4	chr4:15564400-15603200	Weak transcription	HMEC	breast
5	chr4:15564600-15603600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:15565400-15612600	Weak transcription	Brain Substantia Nigra	brain
7	chr4:15565400-15621400	Weak transcription	Esophagus	oesophagus
8	chr4:15565600-15604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:15565600-15611400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:15565800-15605000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:15568400-15655600	Weak transcription	Gastric	stomach
12	chr4:15569600-15603600	Weak transcription	Spleen	Spleen
13	chr4:15569600-15604200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:15572200-15604000	Weak transcription	Primary T cells from cord blood	blood
15	chr4:15572200-15604200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:15573200-15603800	Weak transcription	Fetal Intestine Small	intestine
17	chr4:15575200-15618000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:15587200-15612600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:15589800-15621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:15590000-15603200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:15590000-15615600	Weak transcription	Lung	lung
22	chr4:15590400-15604200	Weak transcription	Fetal Intestine Large	intestine
23	chr4:15590600-15626400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:15593800-15604200	Weak transcription	Brain Germinal Matrix	brain
25	chr4:15593800-15621200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:15594000-15603600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:15594000-15607200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:15594000-15609200	Weak transcription	Psoas Muscle	Psoas
29	chr4:15594200-15604400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:15594600-15617800	Weak transcription	Right Ventricle	heart
31	chr4:15595000-15604400	Weak transcription	HUVEC	blood vessel
32	chr4:15595000-15604600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr4:15595000-15605200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:15595000-15606000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:15595200-15603400	Weak transcription	HSMMtube	muscle
36	chr4:15595400-15605400	Weak transcription	Fetal Brain Male	brain
37	chr4:15595400-15614000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:15595800-15611400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr4:15596000-15608000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:15596000-15612800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr4:15596200-15603200	Weak transcription	Dnd41	blood
42	chr4:15596400-15606600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr4:15596600-15616400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:15596800-15610000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr4:15597200-15620600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr4:15597400-15603400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:15597600-15604200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:15598400-15605000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:15598400-15608800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:15598600-15607400	Strong transcription	NHDF-Ad	bronchial

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