Variant report

Variant	rs3784330
Chromosome Location	chr15:78420311-78420312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr15:78420095-78420578	HepG2	liver:	n/a	n/a
2	FOXA2	chr15:78419994-78420905	HepG2	liver:	n/a	n/a
3	FOXA1	chr15:78420091-78420593	HepG2	liver:	n/a	n/a
4	FOXA1	chr15:78420195-78420557	T-47D	breast:	n/a	n/a
5	EP300	chr15:78420112-78420597	T-47D	breast:	n/a	n/a
6	FOXA2	chr15:78420199-78420533	HepG2	liver:	n/a	n/a
7	FOXA1	chr15:78420175-78420625	HepG2	liver:	n/a	n/a
8	FOXA1	chr15:78420113-78420676	HepG2	liver:	n/a	n/a
9	EP300	chr15:78420141-78420589	HepG2	liver:	n/a	n/a
10	FOXA1	chr15:78420168-78420620	T-47D	breast:	n/a	n/a
11	TCF12	chr15:78420114-78420835	A549	lung:	n/a	chr15:78420627-78420637
12	FOXA2	chr15:78420048-78420747	A549	lung:	n/a	n/a
13	FOXA2	chr15:78420089-78420676	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78370032..78372893-chr15:78419584..78422013,2	K562	blood:
2	chr15:78415578..78418326-chr15:78419099..78421410,2	MCF-7	breast:
3	chr15:78370032..78372147-chr15:78419763..78422013,2	K562	blood:

No data

Variant related genes	Relation type
IDH3A	TF binding region
ENSG00000167202	Chromatin interaction
ENSG00000183476	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11547207	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11639461	0.86[ASN][1000 genomes]
rs1542100	0.94[ASN][1000 genomes]
rs16969507	0.91[ASN][1000 genomes]
rs16969508	0.91[ASN][1000 genomes]
rs16969514	0.99[ASN][1000 genomes]
rs1971151	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2304827	0.88[ASN][1000 genomes]
rs2304828	0.90[ASN][1000 genomes]
rs2304829	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2867922	0.86[ASN][1000 genomes]
rs3784328	0.95[ASN][1000 genomes]
rs62009267	0.86[ASN][1000 genomes]
rs6495273	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7161765	0.99[ASN][1000 genomes]
rs7162025	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72732564	0.86[ASN][1000 genomes]
rs7359294	0.95[ASN][1000 genomes]
rs8028859	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs8032449	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs8036417	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3784330	CIB2	Cis_1M	lymphoblastoid	RTeQTL
rs3784330	CIB2	cis	Muscle Skeletal	GTEx
rs3784330	CIB2	cis	Esophagus Mucosa	GTEx
rs3784330	CIB2	cis	Thyroid	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78396200-78421800	Weak transcription	Right Ventricle	heart
2	chr15:78396600-78423800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:78397600-78421400	Weak transcription	Fetal Muscle Leg	muscle
4	chr15:78398400-78423200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:78400000-78422400	Weak transcription	Brain Germinal Matrix	brain
6	chr15:78405600-78421400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:78406000-78421600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr15:78406000-78423000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:78406400-78423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:78409000-78423000	Weak transcription	Brain Anterior Caudate	brain
11	chr15:78413600-78421400	Weak transcription	Right Atrium	heart
12	chr15:78413800-78421200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:78413800-78421200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:78413800-78421200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:78413800-78422600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:78413800-78422600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:78415200-78423000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:78415800-78421600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:78416000-78421400	Weak transcription	Fetal Brain Female	brain
20	chr15:78417200-78421200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:78417200-78423200	Weak transcription	Adipose Nuclei	Adipose
22	chr15:78417400-78422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:78417800-78423000	Weak transcription	Fetal Stomach	stomach
24	chr15:78419000-78421000	Genic enhancers	Fetal Thymus	thymus
25	chr15:78419200-78420600	Enhancers	K562	blood
26	chr15:78419200-78421400	Genic enhancers	Fetal Intestine Small	intestine
27	chr15:78419600-78420600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr15:78419600-78420800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr15:78419600-78421200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:78419600-78421400	Enhancers	Fetal Intestine Large	intestine
31	chr15:78419600-78422400	Enhancers	A549	lung
32	chr15:78420000-78420400	Enhancers	Duodenum Mucosa	Duodenum
33	chr15:78420000-78420600	Enhancers	HepG2	liver
34	chr15:78420000-78421400	Genic enhancers	Thymus	Thymus
35	chr15:78420000-78421800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:78420200-78420600	Enhancers	Stomach Mucosa	stomach
37	chr15:78420200-78420800	Enhancers	Rectal Mucosa Donor 31	rectum

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