Variant report

Variant	rs737241
Chromosome Location	chr4:74316729-74316730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:74316124-74316748	HepG2	liver:	n/a	n/a
2	CREB1	chr4:74316049-74316925	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:74316048-74316797	U87	brain:	n/a	n/a
4	MYC	chr4:74316113-74316745	K562	blood:	n/a	n/a
5	MAFK	chr4:74315924-74316778	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr4:74316136-74316746	H1-hESC	embryonic stem cell:	n/a	chr4:74316397-74316409
7	POLR2A	chr4:74315889-74317091	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:74315683-74319740	HepG2	liver:	n/a	n/a
9	TEAD4	chr4:74316048-74316800	ECC-1	luminal epithelium:	n/a	n/a
10	E2F6	chr4:74316225-74316811	H1-hESC	embryonic stem cell:	n/a	n/a
11	FOS	chr4:74316175-74316757	MCF10A-Er-Src	breast:	n/a	n/a
12	HEY1	chr4:74315680-74319733	HepG2	liver:	n/a	n/a
13	POLR2A	chr4:74315750-74319715	HepG2	liver:	n/a	n/a
14	TBL1XR1	chr4:74316707-74316748	K562	blood:	n/a	n/a
15	MAX	chr4:74316152-74316764	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr4:74316131-74316730	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYBL2	chr4:74316175-74316803	HepG2	liver:	n/a	n/a
18	FOS	chr4:74316114-74316768	MCF10A-Er-Src	breast:	n/a	n/a
19	NFIC	chr4:74315989-74316973	ECC-1	luminal epithelium:	n/a	n/a
20	NFIC	chr4:74315982-74317770	ECC-1	luminal epithelium:	n/a	n/a
21	YY1	chr4:74316237-74316793	ECC-1	luminal epithelium:	n/a	chr4:74316397-74316409
22	TCF12	chr4:74316286-74316833	ECC-1	luminal epithelium:	n/a	n/a
23	FOS	chr4:74316117-74316733	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr4:74315844-74319677	HepG2	liver:	n/a	n/a
25	POLR2A	chr4:74315741-74319722	HepG2	liver:	n/a	n/a
26	EP300	chr4:74315961-74317712	ECC-1	luminal epithelium:	n/a	chr4:74316497-74316511 chr4:74316152-74316165 chr4:74317134-74317148
27	TCF12	chr4:74315957-74317658	ECC-1	luminal epithelium:	n/a	n/a
28	MAX	chr4:74315970-74316762	K562	blood:	n/a	n/a
29	MAX	chr4:74316026-74316735	K562	blood:	n/a	n/a
30	MYBL2	chr4:74315899-74316902	HepG2	liver:	n/a	n/a
31	MYC	chr4:74316190-74316768	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr4:74316048-74316795	U87	brain:	n/a	n/a
33	MAX	chr4:74316180-74316806	H1-hESC	embryonic stem cell:	n/a	n/a
34	FOSL2	chr4:74316011-74316790	A549	lung:	n/a	n/a
35	EP300	chr4:74316289-74316807	ECC-1	luminal epithelium:	n/a	chr4:74316497-74316511
36	FOXA1	chr4:74316148-74316738	HepG2	liver:	n/a	n/a
37	TEAD4	chr4:74315931-74316804	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr4:74315925-74316747	U87	brain:	n/a	n/a
39	POLR2A	chr4:74315919-74316753	U87	brain:	n/a	n/a
40	MBD4	chr4:74312922-74319740	HepG2	liver:	n/a	n/a
41	HEY1	chr4:74315688-74316799	HepG2	liver:	n/a	n/a
42	NFIC	chr4:74316035-74316824	SK-N-SH	brain:	n/a	n/a
43	YY1	chr4:74316305-74316730	ECC-1	luminal epithelium:	n/a	chr4:74316397-74316409
44	TEAD4	chr4:74315825-74319787	HepG2	liver:	n/a	n/a
45	FOS	chr4:74316114-74316775	MCF10A-Er-Src	breast:	n/a	n/a
46	FOSL2	chr4:74316046-74316822	SK-N-SH	brain:	n/a	n/a
47	E2F6	chr4:74316071-74316910	H1-hESC	embryonic stem cell:	n/a	n/a
48	FOSL2	chr4:74316042-74316752	HepG2	liver:	n/a	n/a
49	MBD4	chr4:74307189-74325400	HepG2	liver:	n/a	n/a
50	POLR2A	chr4:74307214-74325260	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74281238..74283827-chr4:74315947..74318394,2	K562	blood:

No data

Variant related genes	Relation type
AFP	TF binding region
ENSG00000163631	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10001225	0.85[ASN][1000 genomes]
rs10002756	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10020432	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10031441	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12504308	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12506899	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510174	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13150293	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16849384	0.91[EUR][1000 genomes]
rs2276937	0.80[EUR][1000 genomes]
rs2298839	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7660680	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7668327	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[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	esv3430875	chr4:74243646-74420354	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74303400-74317200	Weak transcription	Fetal Intestine Large	intestine
2	chr4:74314400-74317400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:74314600-74317000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:74315200-74317000	Weak transcription	Liver	Liver
5	chr4:74315200-74319600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:74315400-74318200	Strong transcription	HepG2	liver
7	chr4:74315400-74319600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:74315400-74320200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:74315600-74317600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:74315800-74316800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:74315800-74316800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:74315800-74316800	Strong transcription	Fetal Intestine Small	intestine
13	chr4:74315800-74317000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:74315800-74317000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:74315800-74317400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:74316000-74316800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:74316000-74316800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:74316000-74316800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr4:74316000-74316800	Enhancers	Adipose Nuclei	Adipose
20	chr4:74316000-74316800	Enhancers	HMEC	breast
21	chr4:74316000-74316800	Flanking Active TSS	K562	blood
22	chr4:74316000-74316800	Flanking Active TSS	Osteobl	bone
23	chr4:74316000-74318600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:74316000-74319000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:74316000-74319400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr4:74316200-74316800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:74316200-74316800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:74316200-74316800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:74316200-74316800	Enhancers	Fetal Muscle Leg	muscle
30	chr4:74316200-74316800	Enhancers	Ovary	ovary
31	chr4:74316200-74316800	Flanking Active TSS	HSMM	muscle
32	chr4:74316400-74316800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:74316400-74316800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:74316400-74316800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:74316400-74316800	Enhancers	Esophagus	oesophagus
36	chr4:74316400-74316800	Enhancers	Fetal Muscle Trunk	muscle
37	chr4:74316400-74316800	Enhancers	Pancreas	Pancrea
38	chr4:74316400-74316800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr4:74316400-74316800	Enhancers	Right Atrium	heart
40	chr4:74316400-74317200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr4:74316400-74319600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:74316600-74316800	Active TSS	A549	lung
43	chr4:74316600-74317000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:74316600-74317200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:74316600-74317200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:74316600-74317200	Weak transcription	NHLF	lung
47	chr4:74316600-74317400	Enhancers	NHEK	skin
48	chr4:74316600-74317800	Enhancers	NH-A	brain
49	chr4:74316600-74318200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:74316600-74318400	Enhancers	NHDF-Ad	bronchial

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