Variant report

Variant	rs4866830
Chromosome Location	chr5:43486647-43486648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:43486472-43487036	K562	blood:	n/a	chr5:43486623-43486634
2	CEBPB	chr5:43486491-43487039	HepG2	liver:	n/a	chr5:43486623-43486634
3	CEBPB	chr5:43486431-43486831	K562	blood:	n/a	chr5:43486623-43486634
4	JUND	chr5:43486568-43486728	K562	blood:	n/a	n/a
5	CEBPB	chr5:43486477-43486774	HepG2	liver:	n/a	chr5:43486623-43486634
6	ZNF384	chr5:43486644-43486712	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:172313798..172314343-chr5:43486643..43487623,2	MCF-7	breast:
2	chr5:43486106..43488978-chr5:43507270..43509825,2	K562	blood:
3	chr5:43283734..43286353-chr5:43486152..43488846,2	K562	blood:
4	chr5:43395776..43403836-chr5:43482661..43487155,15	MCF-7	breast:
5	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
6	chr5:43486040..43488414-chr5:43536255..43538183,2	MCF-7	breast:
7	chr5:43368792..43371190-chr5:43484228..43486800,2	K562	blood:
8	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
9	chr5:43485676..43488495-chr5:43528382..43530215,2	K562	blood:

No data

Variant related genes	Relation type
C5orf28	TF binding region
ENSG00000248240	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000151882	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10036954	0.82[ASN][1000 genomes]
rs10053229	0.82[ASN][1000 genomes]
rs10066408	0.82[ASN][1000 genomes]
rs10068064	0.82[ASN][1000 genomes]
rs2132003	0.82[ASN][1000 genomes]
rs3776423	0.82[ASN][1000 genomes]
rs4074777	0.82[ASN][1000 genomes]
rs4866831	0.95[ASN][1000 genomes]
rs56252541	0.91[ASN][1000 genomes]
rs57403343	0.82[ASN][1000 genomes]
rs6451704	0.82[ASN][1000 genomes]
rs6451705	0.82[ASN][1000 genomes]
rs67466542	0.82[ASN][1000 genomes]
rs6895327	0.82[ASN][1000 genomes]
rs6896693	0.82[ASN][1000 genomes]
rs72756535	0.82[ASN][1000 genomes]
rs72758674	0.84[ASN][1000 genomes]
rs7710628	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1802134	chr5:43476545-43492449	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	142 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43484800-43486800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:43484800-43487600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr5:43484800-43498000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:43484800-43502800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:43484800-43502800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:43484800-43502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:43484800-43502800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:43484800-43505600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:43484800-43511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:43484800-43514000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:43484800-43514600	Weak transcription	Ovary	ovary
12	chr5:43484800-43514800	Weak transcription	Spleen	Spleen
13	chr5:43485000-43486800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:43485000-43486800	Enhancers	HepG2	liver
15	chr5:43485000-43487400	Enhancers	Primary T cells from cord blood	blood
16	chr5:43485000-43488200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:43485000-43488200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:43485000-43488400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:43485000-43497800	Weak transcription	Placenta	Placenta
20	chr5:43485000-43501000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:43485000-43501000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:43485000-43502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:43485000-43503000	Weak transcription	NHEK	skin
24	chr5:43485000-43503400	Weak transcription	Brain Germinal Matrix	brain
25	chr5:43485000-43504600	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:43485000-43505000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:43485000-43513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:43485000-43513800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:43485000-43514200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:43485200-43486800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr5:43485200-43487000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:43485200-43488000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:43485200-43488200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:43485200-43488200	Weak transcription	HUVEC	blood vessel
35	chr5:43485200-43488800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:43485200-43489200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:43485200-43489400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:43485200-43490200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:43485200-43502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:43485200-43505400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:43485200-43505400	Weak transcription	Fetal Intestine Large	intestine
42	chr5:43485200-43505400	Weak transcription	Fetal Stomach	stomach
43	chr5:43485200-43506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:43485200-43506000	Weak transcription	Adipose Nuclei	Adipose
45	chr5:43485200-43513200	Weak transcription	NHDF-Ad	bronchial
46	chr5:43485200-43513200	Weak transcription	NHLF	lung
47	chr5:43485200-43513400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:43485200-43513400	Weak transcription	Fetal Lung	lung
49	chr5:43485200-43513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:43485200-43513600	Weak transcription	Fetal Intestine Small	intestine

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