Variant report

Variant	rs4117784
Chromosome Location	chr5:154101875-154101876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr5:154100983-154102136	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr5:154100944-154102014	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154100043..154103017-chr5:154106751..154108320,2	MCF-7	breast:
2	chr5:154094980..154099669-chr5:154100120..154102766,5	MCF-7	breast:
3	chr5:154101828..154105773-chr5:154135150..154137460,3	K562	blood:
4	chr5:154101484..154103406-chr5:154106507..154110361,3	K562	blood:
5	chr5:154096853..154100003-chr5:154100252..154103501,3	K562	blood:
6	chr5:154100501..154102218-chr5:154144697..154147317,2	K562	blood:
7	chr5:154084447..154086272-chr5:154100448..154103273,2	K562	blood:
8	chr5:154100038..154105405-chr5:154105836..154109183,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272197	TF binding region
ENSG00000155506	Chromatin interaction
ENSG00000272197	Chromatin interaction
ENSG00000241187	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10039709	0.85[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.80[MKK][hapmap];0.95[ASN][1000 genomes]
rs10051493	0.81[ASN][1000 genomes]
rs10058604	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10073561	0.94[ASN][1000 genomes]
rs1972618	0.84[ASN][1000 genomes]
rs3893695	1.00[ASN][1000 genomes]
rs4958387	0.95[ASN][1000 genomes]
rs4958761	0.84[GIH][hapmap]
rs4958765	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.87[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4958767	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6580102	0.83[ASN][1000 genomes]
rs6580104	0.83[ASN][1000 genomes]
rs6580111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6868098	0.80[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.92[ASN][1000 genomes]
rs749777	0.80[CHD][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];0.86[LWK][hapmap];0.86[ASN][1000 genomes]
rs7721183	0.84[ASN][1000 genomes]
rs7736062	0.99[ASN][1000 genomes]
rs9324791	0.81[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs9324792	0.83[CHD][hapmap];0.93[GIH][hapmap];0.93[LWK][hapmap];0.91[ASN][1000 genomes]
rs965235	0.81[GIH][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021153	chr5:154099869-154147970	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4117784	KIF4B	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154074200-154108600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:154074200-154120000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:154093400-154103400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:154093600-154103200	Weak transcription	Small Intestine	intestine
5	chr5:154094200-154103400	Weak transcription	Colonic Mucosa	Colon
6	chr5:154094400-154102600	Weak transcription	Fetal Intestine Small	intestine
7	chr5:154094400-154103400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:154094400-154103400	Weak transcription	Esophagus	oesophagus
9	chr5:154094400-154104200	Weak transcription	Aorta	Aorta
10	chr5:154094600-154103200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:154094600-154106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:154094800-154102000	Weak transcription	Fetal Intestine Large	intestine
13	chr5:154097200-154102600	Weak transcription	Liver	Liver
14	chr5:154097200-154102800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:154097400-154102800	Weak transcription	Gastric	stomach
16	chr5:154097800-154107800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:154098600-154102800	Weak transcription	Left Ventricle	heart
18	chr5:154098600-154104200	Weak transcription	Right Ventricle	heart
19	chr5:154099000-154103600	Weak transcription	Adipose Nuclei	Adipose
20	chr5:154100000-154102000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:154100200-154102000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:154100400-154102800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:154100400-154104600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:154100600-154102200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:154100800-154102000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr5:154101000-154102000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:154101000-154102200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:154101000-154102200	Enhancers	Fetal Heart	heart
29	chr5:154101000-154102200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:154101000-154104200	Enhancers	HepG2	liver
31	chr5:154101200-154102000	Enhancers	Psoas Muscle	Psoas
32	chr5:154101200-154103400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:154101400-154102000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:154101400-154102000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:154101400-154102200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr5:154101600-154102000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr5:154101600-154102000	Genic enhancers	Pancreas	Pancrea
38	chr5:154101600-154102200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:154101600-154102200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr5:154101600-154102800	Weak transcription	K562	blood
41	chr5:154101800-154102200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr5:154101800-154102400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:154101800-154103000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr5:154101800-154103000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:154101800-154103000	Enhancers	HUES64 Cell Line	embryonic stem cell

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