Variant report

Variant	rs72858534
Chromosome Location	chr4:77155899-77155900
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr4:77155518-77155938	K562	blood:	n/a	n/a
2	ELF1	chr4:77155453-77155992	MCF-7	breast:	n/a	n/a
3	POLR2A	chr4:77155130-77155931	K562	blood:	n/a	n/a
4	POLR2A	chr4:77155363-77156003	HCT-116	colon:	n/a	n/a
5	POLR2A	chr4:77155077-77155969	K562	blood:	n/a	n/a
6	POLR2A	chr4:77154833-77156028	K562	blood:	n/a	n/a
7	TBL1XR1	chr4:77155280-77156018	K562	blood:	n/a	n/a
8	POLR2A	chr4:77155257-77155966	SK-N-MC	brain:	n/a	n/a
9	MXI1	chr4:77154220-77156125	SK-N-SH	brain:	n/a	n/a
10	MAZ	chr4:77154762-77155989	K562	blood:	n/a	n/a
11	POLR2A	chr4:77154769-77155931	K562	blood:	n/a	n/a
12	JUND	chr4:77155340-77155984	K562	blood:	n/a	n/a
13	POLR2A	chr4:77155272-77155948	K562	blood:	n/a	n/a
14	MYC	chr4:77154721-77155985	K562	blood:	n/a	n/a
15	GABPA	chr4:77155395-77155992	SK-N-SH	brain:	n/a	n/a
16	IRF1	chr4:77155454-77155906	K562	blood:	n/a	n/a
17	PML	chr4:77155358-77155903	K562	blood:	n/a	n/a
18	ELF1	chr4:77155258-77156165	HCT-116	colon:	n/a	n/a
19	ZNF384	chr4:77155437-77155981	K562	blood:	n/a	n/a
20	POLR2A	chr4:77155323-77155917	K562	blood:	n/a	n/a
21	POLR2A	chr4:77155352-77156002	K562	blood:	n/a	n/a
22	POLR2A	chr4:77155373-77155991	HCT-116	colon:	n/a	n/a
23	MAX	chr4:77154942-77156162	HCT-116	colon:	n/a	n/a
24	GABPA	chr4:77155317-77156121	MCF-7	breast:	n/a	n/a
25	POLR2A	chr4:77155309-77155920	PANC-1	pancreas:	n/a	n/a
26	ARID3A	chr4:77155559-77156029	K562	blood:	n/a	n/a
27	POLR2A	chr4:77155232-77155902	H1-hESC	embryonic stem cell:	n/a	n/a
28	ELF1	chr4:77155623-77155942	K562	blood:	n/a	n/a
29	POLR2A	chr4:77155402-77155970	PANC-1	pancreas:	n/a	n/a
30	ELF1	chr4:77155422-77155947	MCF-7	breast:	n/a	n/a
31	POLR2A	chr4:77155192-77155937	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr4:77155383-77156001	HCT-116	colon:	n/a	n/a
33	TAF1	chr4:77155320-77155972	K562	blood:	n/a	n/a
34	ELF1	chr4:77155392-77156095	K562	blood:	n/a	n/a
35	POLR2A	chr4:77154808-77156066	K562	blood:	n/a	n/a
36	MAX	chr4:77155092-77155997	K562	blood:	n/a	n/a
37	TEAD4	chr4:77155171-77155974	K562	blood:	n/a	n/a
38	POLR2A	chr4:77155258-77156003	K562	blood:	n/a	n/a
39	TBP	chr4:77155196-77155990	K562	blood:	n/a	n/a
40	GABPA	chr4:77155572-77156004	K562	blood:	n/a	n/a
41	MAX	chr4:77155474-77155954	SK-N-SH	brain:	n/a	n/a
42	YY1	chr4:77155415-77155935	K562	blood:	n/a	n/a
43	CBX3	chr4:77155044-77156100	K562	blood:	n/a	n/a
44	HCFC1	chr4:77155373-77155911	K562	blood:	n/a	n/a
45	SIN3AK20	chr4:77155051-77155999	MCF-7	breast:	n/a	n/a
46	GABPA	chr4:77155492-77155911	SK-N-SH	brain:	n/a	n/a
47	IRF1	chr4:77154536-77155906	K562	blood:	n/a	n/a
48	POLR2A	chr4:77155328-77155998	MCF-7	breast:	n/a	n/a
49	GABPA	chr4:77155446-77155958	MCF-7	breast:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:77154636..77156996-chr4:77223567..77225179,2	MCF-7	breast:
2	chr4:77140173..77141929-chr4:77155477..77157250,2	MCF-7	breast:
3	chr4:77154634..77156817-chr4:77226157..77228039,2	MCF-7	breast:
4	chr4:77149994..77152737-chr4:77153466..77157199,4	MCF-7	breast:
5	chr4:77147821..77149709-chr4:77155389..77157207,2	K562	blood:
6	chr4:77154984..77156976-chr4:77172946..77174616,2	K562	blood:
7	chr4:77153577..77156755-chr4:77170388..77173391,3	MCF-7	breast:
8	chr4:77154267..77157230-chr4:77166961..77169632,3	MCF-7	breast:
9	chr4:77154403..77156525-chr4:77159760..77161520,2	K562	blood:
10	chr4:77132958..77141575-chr4:77150872..77159587,22	MCF-7	breast:
11	chr4:77154639..77157033-chr4:77221120..77222872,2	MCF-7	breast:
12	chr4:77131893..77139465-chr4:77152630..77158664,14	MCF-7	breast:
13	chr4:77129658..77131326-chr4:77154481..77156766,2	MCF-7	breast:
14	chr4:77154535..77156481-chr4:77226996..77228596,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM47E	TF binding region
ENSG00000272414	Chromatin interaction
ENSG00000138760	Chromatin interaction
ENSG00000118804	Chromatin interaction
ENSG00000189157	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs57389468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58041283	1.00[AMR][1000 genomes]
rs58343507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60983927	1.00[AMR][1000 genomes]
rs61494828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858504	1.00[AMR][1000 genomes]
rs72858514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858560	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858568	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858572	1.00[AMR][1000 genomes]
rs72858576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858586	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858588	1.00[AMR][1000 genomes]
rs72858593	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858595	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72862952	1.00[AMR][1000 genomes]
rs72862990	1.00[AMR][1000 genomes]

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77153600-77156200	Active TSS	K562	blood
2	chr4:77154000-77156400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr4:77154200-77156000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:77154200-77156000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr4:77154200-77156000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:77154200-77156000	Active TSS	Fetal Intestine Large	intestine
7	chr4:77154200-77156200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:77154200-77159800	Enhancers	Stomach Mucosa	stomach
9	chr4:77154400-77156000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:77154400-77156000	Enhancers	Small Intestine	intestine
11	chr4:77154400-77156200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:77154600-77156600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:77154800-77156000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:77154800-77156000	Enhancers	Esophagus	oesophagus
15	chr4:77154800-77156000	Enhancers	Pancreas	Pancrea
16	chr4:77154800-77156000	Active TSS	A549	lung
17	chr4:77155000-77156000	Active TSS	Monocytes-CD14+_RO01746	blood
18	chr4:77155200-77156200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr4:77155200-77156800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:77155400-77156000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:77155400-77156800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:77155400-77156800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:77155400-77158400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:77155600-77156000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr4:77155600-77156000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:77155600-77156000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:77155600-77156800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:77155600-77156800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:77155600-77156800	Weak transcription	HMEC	breast
30	chr4:77155600-77157000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:77155600-77157000	Enhancers	Colonic Mucosa	Colon
32	chr4:77155800-77156000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:77155800-77156000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:77155800-77156000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:77155800-77156000	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr4:77155800-77156000	Flanking Active TSS	Placenta	Placenta
37	chr4:77155800-77156200	Flanking Active TSS	NHEK	skin
38	chr4:77155800-77156600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:77155800-77156600	Weak transcription	HepG2	liver
40	chr4:77155800-77156800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:77155800-77156800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:77155800-77157600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr4:77155800-77158800	Weak transcription	Psoas Muscle	Psoas

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