Variant report

Variant	rs72877330
Chromosome Location	chr4:88330803-88330804
allele	A/C
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	NR3C1	chr4:88330556-88331082	A549	lung:	n/a	chr4:88330666-88330692 chr4:88330666-88330692 chr4:88330672-88330686 chr4:88330671-88330687 chr4:88330666-88330692 chr4:88330670-88330688 chr4:88330666-88330692 chr4:88330671-88330687 chr4:88330672-88330686 chr4:88330666-88330692
2	ARID3A	chr4:88330579-88330920	HepG2	liver:	n/a	n/a
3	FOXA1	chr4:88330465-88331109	HepG2	liver:	n/a	n/a
4	MBD4	chr4:88330525-88331000	HepG2	liver:	n/a	n/a
5	MXI1	chr4:88330712-88330884	HepG2	liver:	n/a	n/a
6	EP300	chr4:88330727-88330960	K562	blood:	n/a	n/a
7	FOXA1	chr4:88330426-88331116	A549	lung:	n/a	n/a
8	TCF7L2	chr4:88330415-88332369	HEK293	kidney:	n/a	n/a
9	SP1	chr4:88330431-88331064	HepG2	liver:	n/a	n/a
10	TCF7L2	chr4:88330340-88330954	PANC-1	pancreas:	n/a	n/a
11	TEAD4	chr4:88330268-88331081	HepG2	liver:	n/a	n/a
12	TBL1XR1	chr4:88330674-88330993	K562	blood:	n/a	n/a
13	SP1	chr4:88330447-88331238	A549	lung:	n/a	n/a
14	EP300	chr4:88330503-88330985	HepG2	liver:	n/a	chr4:88330527-88330541
15	RXRA	chr4:88330545-88330958	HepG2	liver:	n/a	n/a
16	TAL1	chr4:88330623-88330989	K562	blood:	n/a	n/a
17	FOXA2	chr4:88330545-88331125	A549	lung:	n/a	n/a
18	FOXA1	chr4:88330461-88331102	HepG2	liver:	n/a	n/a
19	FOXA1	chr4:88330484-88331102	HepG2	liver:	n/a	n/a
20	FOXA1	chr4:88330463-88331106	A549	lung:	n/a	n/a
21	GATA3	chr4:88330491-88331037	A549	lung:	n/a	chr4:88330785-88330795 chr4:88330875-88330885 chr4:88330875-88330882
22	TEAD4	chr4:88330611-88331068	K562	blood:	n/a	n/a
23	NR2F2	chr4:88330373-88331224	HepG2	liver:	n/a	n/a
24	NR3C1	chr4:88330535-88330880	A549	lung:	n/a	chr4:88330666-88330692 chr4:88330666-88330692 chr4:88330672-88330686 chr4:88330671-88330687 chr4:88330666-88330692 chr4:88330670-88330688 chr4:88330666-88330692 chr4:88330671-88330687 chr4:88330672-88330686 chr4:88330666-88330692
25	CUX1	chr4:88330757-88330979	K562	blood:	n/a	n/a
26	NR3C1	chr4:88330528-88330908	A549	lung:	n/a	chr4:88330666-88330692 chr4:88330666-88330692 chr4:88330672-88330686 chr4:88330671-88330687 chr4:88330666-88330692 chr4:88330670-88330688 chr4:88330666-88330692 chr4:88330671-88330687 chr4:88330672-88330686 chr4:88330666-88330692
27	NR2F2	chr4:88330448-88331109	HepG2	liver:	n/a	n/a
28	ATF1	chr4:88330654-88330978	K562	blood:	n/a	n/a
29	RCOR1	chr4:88330676-88331152	K562	blood:	n/a	n/a
30	HDAC2	chr4:88330519-88331013	HepG2	liver:	n/a	n/a
31	GATA3	chr4:88330539-88331142	A549	lung:	n/a	chr4:88330785-88330795 chr4:88330875-88330885 chr4:88330875-88330882
32	HNF4G	chr4:88330556-88331033	HepG2	liver:	n/a	n/a
33	HDAC2	chr4:88330476-88331136	HepG2	liver:	n/a	n/a
34	MYBL2	chr4:88330475-88331317	HepG2	liver:	n/a	n/a
35	FOXA1	chr4:88330479-88330979	HepG2	liver:	n/a	n/a
36	TCF12	chr4:88330348-88331797	A549	lung:	n/a	n/a
37	NR3C1	chr4:88330471-88331046	A549	lung:	n/a	chr4:88330666-88330692 chr4:88330666-88330692 chr4:88330672-88330686 chr4:88330671-88330687 chr4:88330666-88330692 chr4:88330670-88330688 chr4:88330666-88330692 chr4:88330671-88330687 chr4:88330672-88330686 chr4:88330666-88330692
38	FOXA2	chr4:88330491-88331085	HepG2	liver:	n/a	n/a
39	NR3C1	chr4:88330483-88330967	A549	lung:	n/a	chr4:88330666-88330692 chr4:88330666-88330692 chr4:88330672-88330686 chr4:88330671-88330687 chr4:88330666-88330692 chr4:88330670-88330688 chr4:88330666-88330692 chr4:88330671-88330687 chr4:88330672-88330686 chr4:88330666-88330692
40	SP1	chr4:88330556-88331015	A549	lung:	n/a	n/a
41	KAP1	chr4:88330302-88332262	HEK293	kidney:	n/a	n/a
42	CEBPD	chr4:88330635-88331109	K562	blood:	n/a	n/a
43	ELF1	chr4:88330638-88330937	HepG2	liver:	n/a	n/a
44	KAP1	chr4:88330287-88332199	U2OS	brain:	n/a	n/a
45	NFIC	chr4:88330534-88331075	HepG2	liver:	n/a	n/a
46	HNF4A	chr4:88330540-88331013	HepG2	liver:	n/a	n/a
47	TCF7L2	chr4:88330597-88330971	HepG2	liver:	n/a	n/a
48	NR3C1	chr4:88330501-88331001	A549	lung:	n/a	chr4:88330666-88330692 chr4:88330666-88330692 chr4:88330672-88330686 chr4:88330671-88330687 chr4:88330666-88330692 chr4:88330670-88330688 chr4:88330666-88330692 chr4:88330671-88330687 chr4:88330672-88330686 chr4:88330666-88330692
49	ARID3A	chr4:88330743-88330962	K562	blood:	n/a	n/a
50	FOXA2	chr4:88330608-88331151	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:88329509..88332282-chr4:88332311..88334966,2	MCF-7	breast:
2	chr4:88330031..88331610-chr4:88342950..88345346,2	K562	blood:
3	chr4:88310329..88313185-chr4:88330457..88332566,2	K562	blood:

Variant related genes	Relation type
ENSG00000249262	TF binding region
ENSG00000251716	TF binding region
ENSG00000170502	Chromatin interaction
ENSG00000198189	Chromatin interaction
ENSG00000251716	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs60725635	1.00[AMR][1000 genomes]
rs72877331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72877338	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72877390	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88327200-88332400	Enhancers	Fetal Intestine Small	intestine
2	chr4:88327600-88332400	Enhancers	Fetal Intestine Large	intestine
3	chr4:88328000-88331200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:88329000-88331200	Weak transcription	Fetal Lung	lung
5	chr4:88329200-88331000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:88329400-88332400	Enhancers	Liver	Liver
7	chr4:88329600-88331000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:88329600-88342600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:88330000-88331000	Enhancers	Duodenum Mucosa	Duodenum
10	chr4:88330000-88331000	Weak transcription	Pancreas	Pancrea
11	chr4:88330000-88331400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr4:88330000-88331800	Enhancers	Stomach Mucosa	stomach
13	chr4:88330200-88332200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:88330200-88332400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:88330400-88331400	Flanking Active TSS	HepG2	liver
16	chr4:88330600-88332000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr4:88330600-88332000	Enhancers	K562	blood
18	chr4:88330800-88331000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:88330800-88332000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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