Variant report

Variant	rs4604230
Chromosome Location	chr5:111541831-111541832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZMIZ1	chr5:111541658-111541886	K562	blood:	n/a	n/a
2	JUND	chr5:111541513-111542034	K562	blood:	n/a	n/a
3	NR2F2	chr5:111541360-111541986	K562	blood:	n/a	n/a
4	ESR1	chr5:111541445-111541878	ECC-1	luminal epithelium:	n/a	n/a
5	TEAD4	chr5:111541518-111542029	K562	blood:	n/a	n/a
6	ARID3A	chr5:111541703-111541923	K562	blood:	n/a	n/a
7	TFAP2C	chr5:111541469-111541991	Hela-S3	cervix:	n/a	n/a
8	SP1	chr5:111541359-111541966	H1-hESC	embryonic stem cell:	n/a	chr5:111541865-111541878
9	TBL1XR1	chr5:111541670-111541905	K562	blood:	n/a	n/a
10	TBL1XR1	chr5:111541573-111541994	K562	blood:	n/a	n/a
11	TAL1	chr5:111541561-111542065	K562	blood:	n/a	n/a
12	HMGN3	chr5:111541424-111542053	K562	blood:	n/a	n/a
13	ATF1	chr5:111541525-111541990	K562	blood:	n/a	n/a
14	GATA1	chr5:111541295-111542225	PBDE	blood:	n/a	chr5:111541834-111541844
15	EBF1	chr5:111541651-111541975	GM12878	blood:	n/a	chr5:111541818-111541829
16	EP300	chr5:111541512-111542127	K562	blood:	n/a	n/a
17	UBTF	chr5:111541558-111541883	K562	blood:	n/a	n/a
18	POLR2A	chr5:111541232-111541901	H1-hESC	embryonic stem cell:	n/a	n/a
19	GATA2	chr5:111541591-111542023	K562	blood:	n/a	chr5:111541834-111541844
20	NR2F2	chr5:111541501-111541953	MCF-7	breast:	n/a	n/a
21	MAZ	chr5:111541740-111542067	K562	blood:	n/a	n/a
22	BHLHE40	chr5:111541493-111541896	K562	blood:	n/a	n/a
23	RCOR1	chr5:111541659-111541945	K562	blood:	n/a	n/a
24	RCOR1	chr5:111541493-111542041	K562	blood:	n/a	n/a
25	CCNT2	chr5:111541670-111542021	K562	blood:	n/a	n/a
26	NR2F2	chr5:111541480-111541958	K562	blood:	n/a	n/a
27	JUN	chr5:111541706-111541906	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111495904..111497786-chr5:111539852..111541904,2	K562	blood:

No data

Variant related genes	Relation type
EPB41L4A	TF binding region
ENSG00000238363	Chromatin interaction
ENSG00000224032	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10463628	0.84[AFR][1000 genomes]
rs11948718	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11952407	1.00[AMR][1000 genomes]
rs11954056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11954058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1427976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1427977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134169	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134172	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134175	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134215	0.94[AFR][1000 genomes]
rs17134220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134247	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4331945	1.00[AMR][1000 genomes]
rs4354094	1.00[AMR][1000 genomes]
rs4355564	1.00[AMR][1000 genomes]
rs4958016	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4998734	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111501400-111546400	Weak transcription	Spleen	Spleen
2	chr5:111502400-111546400	Weak transcription	Aorta	Aorta
3	chr5:111502800-111546000	Weak transcription	Ovary	ovary
4	chr5:111504800-111557800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:111504800-111586400	Weak transcription	Gastric	stomach
6	chr5:111510800-111547400	Weak transcription	HUVEC	blood vessel
7	chr5:111519000-111546400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:111519200-111553800	Weak transcription	Pancreas	Pancrea
9	chr5:111519800-111553600	Weak transcription	Esophagus	oesophagus
10	chr5:111529800-111553600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:111538000-111553400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:111538200-111543200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:111538200-111546400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:111538600-111544800	Weak transcription	Fetal Kidney	kidney
15	chr5:111538600-111563600	Weak transcription	Lung	lung
16	chr5:111539000-111553600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:111539400-111553200	Weak transcription	NHEK	skin
18	chr5:111540000-111542600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:111540200-111542000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:111540400-111544400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:111540400-111553600	Weak transcription	Fetal Heart	heart
22	chr5:111540600-111542200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:111540600-111542400	Weak transcription	Placenta	Placenta
24	chr5:111541200-111542000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:111541200-111542400	Enhancers	Hela-S3	cervix
26	chr5:111541400-111542200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr5:111541400-111542200	Flanking Active TSS	K562	blood
28	chr5:111541600-111542000	Enhancers	Left Ventricle	heart
29	chr5:111541800-111542000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:111541800-111542000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr5:111541800-111542000	Enhancers	Fetal Muscle Leg	muscle
32	chr5:111541800-111542200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:111541800-111542400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr5:111541800-111542600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:111541800-111542800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:111541800-111542800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:111541800-111543000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:111541800-111553800	Weak transcription	Right Ventricle	heart

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