Variant report

Variant	rs6819551
Chromosome Location	chr4:152188472-152188473
allele	A/G
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	CEBPB	chr4:152188257-152188629	HepG2	liver:	n/a	chr4:152188437-152188448
2	HNF4G	chr4:152188330-152188617	HepG2	liver:	n/a	chr4:152188583-152188601 chr4:152188585-152188599 chr4:152188586-152188599 chr4:152188586-152188598 chr4:152188585-152188598 chr4:152188585-152188599 chr4:152188585-152188599 chr4:152188586-152188598 chr4:152188586-152188598
3	HDAC2	chr4:152188310-152188639	HepG2	liver:	n/a	chr4:152188621-152188630
4	FOXA1	chr4:152187693-152188766	HepG2	liver:	n/a	n/a
5	CEBPB	chr4:152188314-152188509	HepG2	liver:	n/a	chr4:152188437-152188448
6	RXRA	chr4:152188212-152188627	HepG2	liver:	n/a	chr4:152188586-152188599 chr4:152188582-152188602 chr4:152188586-152188600 chr4:152188586-152188599 chr4:152188584-152188600
7	FOXA1	chr4:152188180-152188662	HepG2	liver:	n/a	n/a
8	ARID3A	chr4:152188329-152188525	HepG2	liver:	n/a	n/a
9	EP300	chr4:152188178-152188693	HepG2	liver:	n/a	n/a
10	JUND	chr4:152188295-152188521	HepG2	liver:	n/a	n/a
11	CEBPB	chr4:152188340-152188562	IMR90	lung:	n/a	chr4:152188437-152188448
12	MYBL2	chr4:152188152-152188685	HepG2	liver:	n/a	n/a
13	HNF4A	chr4:152188285-152188552	HepG2	liver:	n/a	n/a
14	FOXA1	chr4:152188219-152188624	HepG2	liver:	n/a	n/a
15	CEBPD	chr4:152188251-152188539	HepG2	liver:	n/a	n/a
16	TCF7L2	chr4:152188467-152188794	HepG2	liver:	n/a	n/a
17	TCF12	chr4:152188325-152188591	HepG2	liver:	n/a	n/a
18	FOXA2	chr4:152188281-152188657	HepG2	liver:	n/a	n/a
19	SP1	chr4:152188272-152188656	HepG2	liver:	n/a	n/a
20	CEBPB	chr4:152188287-152188624	HepG2	liver:	n/a	chr4:152188437-152188448
21	MBD4	chr4:152188272-152188683	HepG2	liver:	n/a	n/a
22	FOXA1	chr4:152188226-152188830	HepG2	liver:	n/a	n/a
23	TEAD4	chr4:152188303-152188841	HepG2	liver:	n/a	n/a
24	EP300	chr4:152188169-152188662	HepG2	liver:	n/a	n/a
25	NFIC	chr4:152188272-152188727	HepG2	liver:	n/a	n/a
26	CEBPB	chr4:152188175-152188551	HepG2	liver:	n/a	chr4:152188437-152188448
27	CEBPD	chr4:152188188-152188498	HepG2	liver:	n/a	n/a
28	HNF4A	chr4:152188257-152188583	HepG2	liver:	n/a	n/a
29	POLR2A	chr4:152188320-152188539	HepG2	liver:	n/a	n/a
30	MYBL2	chr4:152188278-152188681	HepG2	liver:	n/a	n/a
31	BHLHE40	chr4:152187926-152188543	HepG2	liver:	n/a	n/a
32	BHLHE40	chr4:152188223-152188513	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SH3D19	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12647331	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12649929	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13102005	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13112985	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13117723	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13120319	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13126069	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13126943	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13128346	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13135328	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13137979	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13148086	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13150868	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1316858	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17590612	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34041707	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36097019	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3990734	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4385037	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66559303	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6846745	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' 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	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152149200-152197600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:152165400-152189000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:152172800-152190600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:152173400-152189400	Weak transcription	Aorta	Aorta
5	chr4:152173800-152198200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:152174000-152192200	Weak transcription	Brain Angular Gyrus	brain
7	chr4:152177400-152198200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:152177800-152200000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:152180000-152193800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:152180200-152189000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:152180800-152191000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:152182600-152189000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:152182600-152211000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:152182800-152206000	Weak transcription	NHEK	skin
15	chr4:152183200-152198200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:152184400-152192400	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:152185000-152191200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:152185000-152198200	Weak transcription	Right Ventricle	heart
19	chr4:152185200-152197600	Weak transcription	Left Ventricle	heart
20	chr4:152187000-152189400	Enhancers	HepG2	liver
21	chr4:152187400-152189400	Enhancers	Fetal Intestine Small	intestine
22	chr4:152187600-152189000	Enhancers	HUVEC	blood vessel
23	chr4:152187600-152189400	Enhancers	Fetal Intestine Large	intestine
24	chr4:152187800-152189000	Enhancers	Duodenum Mucosa	Duodenum
25	chr4:152188000-152189200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:152188200-152189200	Enhancers	Liver	Liver
27	chr4:152188200-152189200	Enhancers	Ovary	ovary
28	chr4:152188400-152188600	Enhancers	Gastric	stomach
29	chr4:152188400-152189200	Enhancers	Pancreas	Pancrea
30	chr4:152188400-152189200	Enhancers	Psoas Muscle	Psoas

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