Variant report

Variant	rs11544776
Chromosome Location	chr4:107236833-107236834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:187)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:187 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr4:107236720-107237895	HepG2	liver:	n/a	n/a
2	FOS	chr4:107236580-107237035	MCF10A-Er-Src	breast:	n/a	chr4:107236681-107236690
3	MYC	chr4:107236766-107238006	K562	blood:	n/a	n/a
4	MXI1	chr4:107235967-107238818	SK-N-SH	brain:	n/a	n/a
5	RFX5	chr4:107236341-107238091	Hela-S3	cervix:	n/a	n/a
6	TBP	chr4:107236637-107238183	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:107236617-107238518	GM12891	blood:	n/a	n/a
8	POLR2A	chr4:107236627-107238088	GM12891	blood:	n/a	n/a
9	MXI1	chr4:107236575-107239230	IMR90	lung:	n/a	n/a
10	HEY1	chr4:107236539-107237553	K562	blood:	n/a	n/a
11	ZNF384	chr4:107236139-107236962	K562	blood:	n/a	n/a
12	USF2	chr4:107236831-107238364	GM12878	blood:	n/a	chr4:107237160-107237176
13	POLR2A	chr4:107236164-107239299	GM12878	blood:	n/a	n/a
14	JUND	chr4:107236271-107237928	K562	blood:	n/a	chr4:107236681-107236690
15	POLR2A	chr4:107236524-107238338	GM12892	blood:	n/a	n/a
16	POLR2A	chr4:107236591-107238068	K562	blood:	n/a	n/a
17	MAX	chr4:107236758-107238152	MCF-7	breast:	n/a	n/a
18	POLR2A	chr4:107236785-107238175	HEK293	kidney:	n/a	n/a
19	POLR2A	chr4:107236520-107238647	GM12878	blood:	n/a	n/a
20	EP300	chr4:107236655-107238127	GM12878	blood:	n/a	chr4:107237920-107237929 chr4:107237595-107237609
21	POLR2A	chr4:107236605-107238109	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAL1	chr4:107236717-107238373	K562	blood:	n/a	n/a
23	STAT3	chr4:107236632-107237077	MCF10A-Er-Src	breast:	n/a	n/a
24	MAX	chr4:107236671-107238527	K562	blood:	n/a	n/a
25	POLR2A	chr4:107236612-107238425	GM12892	blood:	n/a	n/a
26	MAZ	chr4:107236573-107237957	GM12878	blood:	n/a	n/a
27	TAF1	chr4:107236619-107237955	Hela-S3	cervix:	n/a	n/a
28	MAFK	chr4:107236742-107237003	K562	blood:	n/a	n/a
29	ATF1	chr4:107236740-107238091	K562	blood:	n/a	n/a
30	POLR2A	chr4:107236723-107238182	HepG2	liver:	n/a	n/a
31	POLR2A	chr4:107236653-107238000	HepG2	liver:	n/a	n/a
32	CHD2	chr4:107236785-107237858	K562	blood:	n/a	n/a
33	POLR2A	chr4:107236078-107240087	K562	blood:	n/a	n/a
34	POLR2A	chr4:107236823-107237479	HepG2	liver:	n/a	n/a
35	RCOR1	chr4:107236673-107238163	HepG2	liver:	n/a	n/a
36	POLR2A	chr4:107236538-107237004	SK-N-SH	brain:	n/a	n/a
37	TBP	chr4:107236579-107237972	Hela-S3	cervix:	n/a	n/a
38	RCOR1	chr4:107236612-107237940	K562	blood:	n/a	n/a
39	POLR2A	chr4:107236526-107238694	GM12892	blood:	n/a	n/a
40	POLR2A	chr4:107236561-107238680	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr4:107236788-107237502	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr4:107236383-107238707	HUVEC	blood vessel:	n/a	n/a
43	HA-E2F1	chr4:107236669-107238072	MCF-7	breast:	n/a	n/a
44	POLR2A	chr4:107236559-107237983	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr4:107236714-107236890	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr4:107236557-107238273	HL-60	blood:	n/a	n/a
47	MYC	chr4:107236600-107236986	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr4:107236675-107238637	GM12878	blood:	n/a	n/a
49	POLR2A	chr4:107236087-107238920	MCF10A-Er-Src	breast:	n/a	n/a
50	SPI1	chr4:107236528-107236944	HL-60	blood:	n/a	chr4:107236688-107236695

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:107226289..107231817-chr4:107234990..107238909,9	MCF-7	breast:
2	chr4:100869528..100871186-chr4:107235611..107237116,2	K562	blood:
3	chr4:107217698..107220197-chr4:107235297..107237150,2	MCF-7	breast:
4	chr20:57463851..57464376-chr4:107236670..107237605,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
AIMP1	TF binding region
ENSG00000245322	Chromatin interaction
ENSG00000145348	Chromatin interaction
ENSG00000225806	Chromatin interaction
ENSG00000087460	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10009873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10010622	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10010712	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10026011	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10033060	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11729801	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28408532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28432701	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28597815	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28600674	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28615207	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28648796	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28668834	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28722963	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28786397	0.90[AMR][1000 genomes]
rs28786712	0.90[AMR][1000 genomes]
rs28823294	0.90[AMR][1000 genomes]
rs28843476	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28848568	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28852980	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28857517	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28890246	0.90[AMR][1000 genomes]
rs6820647	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7356173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7682001	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9996386	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][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	nsv830029	chr4:107203096-107353483	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1819960	chr4:107216320-107246136	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107235200-107239000	Active TSS	GM12878-XiMat	blood
2	chr4:107235200-107239000	Active TSS	K562	blood
3	chr4:107235400-107238800	Active TSS	NHLF	lung
4	chr4:107235600-107238400	Active TSS	Hela-S3	cervix
5	chr4:107235600-107239400	Active TSS	A549	lung
6	chr4:107235800-107237000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:107235800-107238800	Active TSS	Fetal Intestine Large	intestine
8	chr4:107236000-107237000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:107236000-107237000	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr4:107236000-107237200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:107236000-107238200	Active TSS	Fetal Brain Female	brain
12	chr4:107236000-107238200	Active TSS	HMEC	breast
13	chr4:107236000-107238600	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr4:107236000-107238600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:107236000-107238600	Active TSS	HSMM	muscle
16	chr4:107236200-107237000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr4:107236200-107237000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr4:107236200-107237000	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr4:107236200-107237000	Flanking Active TSS	Liver	Liver
20	chr4:107236200-107237000	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr4:107236200-107237000	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr4:107236200-107237000	Active TSS	Right Atrium	heart
23	chr4:107236200-107237000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr4:107236200-107238200	Active TSS	Brain Anterior Caudate	brain
25	chr4:107236200-107238400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:107236200-107238400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr4:107236200-107238400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr4:107236200-107238400	Active TSS	Right Ventricle	heart
29	chr4:107236200-107238400	Active TSS	NHEK	skin
30	chr4:107236200-107238600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr4:107236200-107238600	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr4:107236200-107238600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr4:107236200-107238600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:107236200-107238600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:107236200-107238800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr4:107236200-107238800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:107236200-107239000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr4:107236200-107239000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr4:107236200-107239000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr4:107236200-107239000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:107236200-107239000	Active TSS	Aorta	Aorta
42	chr4:107236200-107239000	Active TSS	Psoas Muscle	Psoas
43	chr4:107236200-107240000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:107236400-107237000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr4:107236400-107237000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr4:107236400-107237000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:107236400-107237000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:107236400-107237200	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr4:107236400-107238200	Active TSS	Primary T cells fromperipheralblood	blood
50	chr4:107236400-107238200	Active TSS	Primary T helper cells PMA-I stimulated	--

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