Variant report

Variant	rs4494753
Chromosome Location	chr2:114362255-114362256
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr2:114361385-114362552	K562	blood:	n/a	n/a
2	EP300	chr2:114361571-114362714	GM12878	blood:	n/a	n/a
3	CTCF	chr2:114361176-114362307	K562	blood:	n/a	n/a
4	POLR2A	chr2:114360426-114362582	GM12892	blood:	n/a	n/a
5	SIX5	chr2:114362180-114362627	K562	blood:	n/a	n/a
6	CTCF	chr2:114360981-114362508	A549	lung:	n/a	n/a
7	IRF4	chr2:114361506-114362697	GM12878	blood:	n/a	n/a
8	GATA2	chr2:114361518-114362703	K562	blood:	n/a	n/a
9	SP1	chr2:114362222-114362501	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:114360236-114362449	GM12891	blood:	n/a	n/a
11	POLR2A	chr2:114360678-114362391	GM12878	blood:	n/a	n/a
12	SPI1	chr2:114361596-114362347	K562	blood:	n/a	n/a
13	CTCF	chr2:114361325-114362443	A549	lung:	n/a	n/a
14	ZBTB33	chr2:114361434-114362674	GM12878	blood:	n/a	n/a
15	CTCF	chr2:114361202-114362282	A549	lung:	n/a	n/a
16	RXRA	chr2:114360470-114362561	HepG2	liver:	n/a	n/a
17	ZBTB33	chr2:114360318-114362719	K562	blood:	n/a	n/a
18	BHLHE40	chr2:114362116-114362509	HepG2	liver:	n/a	n/a
19	USF1	chr2:114361563-114362275	A549	lung:	n/a	n/a
20	TCF3	chr2:114360802-114362506	GM12878	blood:	n/a	n/a
21	EBF1	chr2:114361501-114362507	GM12878	blood:	n/a	n/a
22	FOSL2	chr2:114360802-114362668	HepG2	liver:	n/a	n/a
23	TAF1	chr2:114362042-114362266	Hela-S3	cervix:	n/a	n/a
24	PAX5	chr2:114360765-114362666	GM12878	blood:	n/a	n/a
25	BCL11A	chr2:114361535-114362539	GM12878	blood:	n/a	n/a
26	SP1	chr2:114361572-114362619	GM12878	blood:	n/a	n/a
27	POU2F2	chr2:114360604-114362709	GM12878	blood:	n/a	n/a
28	BATF	chr2:114361970-114362553	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:114360773-114362635	GM12892	blood:	n/a	n/a
30	USF1	chr2:114361603-114362299	A549	lung:	n/a	n/a
31	SIX5	chr2:114361670-114362643	K562	blood:	n/a	n/a
32	ZBTB33	chr2:114361421-114362667	HepG2	liver:	n/a	n/a
33	SP1	chr2:114360633-114362584	HepG2	liver:	n/a	n/a
34	TCF12	chr2:114362253-114362441	GM12878	blood:	n/a	n/a
35	USF1	chr2:114361461-114362346	A549	lung:	n/a	n/a
36	HEY1	chr2:114362199-114362521	K562	blood:	n/a	n/a
37	CTCF	chr2:114361365-114362626	A549	lung:	n/a	n/a
38	POU2F2	chr2:114360747-114362683	GM12891	blood:	n/a	n/a
39	ZBTB33	chr2:114362163-114362655	GM12878	blood:	n/a	n/a
40	SIN3AK20	chr2:114362036-114362421	HepG2	liver:	n/a	n/a
41	POU2F2	chr2:114361352-114362595	GM12891	blood:	n/a	n/a
42	PAX5	chr2:114360886-114362640	GM12878	blood:	n/a	n/a
43	USF1	chr2:114361524-114362384	A549	lung:	n/a	n/a
44	SPI1	chr2:114361580-114362566	GM12878	blood:	n/a	n/a
45	PAX5	chr2:114362245-114362526	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:114343576-114362718	GM12892	blood:	n/a	n/a
47	FOSL2	chr2:114361409-114362349	HepG2	liver:	n/a	n/a
48	ZBTB33	chr2:114360319-114362649	K562	blood:	n/a	n/a
49	GABPA	chr2:114362251-114362588	Hela-S3	cervix:	n/a	n/a
50	IRF4	chr2:114361471-114362675	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114361748..114362273-chr21:48118691..48119211,2	MCF-7	breast:

No data

Variant related genes	Relation type
DDX11L2	TF binding region

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9631027	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
2	nsv428062	chr2:114251945-114428678	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	esv2757827	chr2:114253780-114428678	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv582714	chr2:114280860-114411190	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv1807730	chr2:114312991-114398343	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv821507	chr2:114322271-114376565	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	esv1805084	chr2:114328505-114366024	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	esv1809766	chr2:114328505-114378566	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
9	esv1797539	chr2:114328505-114380229	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
10	nsv10133	chr2:114329841-114364593	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
11	nsv961494	chr2:114358889-114375499	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv963711	chr2:114358889-114381866	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114360600-114362800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:114360800-114362400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr2:114361200-114362400	Enhancers	Duodenum Mucosa	Duodenum
4	chr2:114361200-114362600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:114361600-114362400	Weak transcription	Brain Substantia Nigra	brain
6	chr2:114361800-114362400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:114361800-114362400	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:114361800-114362400	Enhancers	Fetal Intestine Small	intestine
9	chr2:114361800-114362600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:114361800-114362600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:114361800-114362600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:114361800-114369400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:114361800-114372000	Weak transcription	NH-A	brain
14	chr2:114361800-114383000	Weak transcription	Fetal Lung	lung
15	chr2:114361800-114383000	Weak transcription	Right Ventricle	heart
16	chr2:114361800-114383600	Weak transcription	Liver	Liver
17	chr2:114361800-114383600	Weak transcription	Fetal Stomach	stomach
18	chr2:114362000-114362400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr2:114362000-114362400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:114362000-114362400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:114362000-114362400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:114362000-114362400	Enhancers	Brain Anterior Caudate	brain
23	chr2:114362000-114362400	Enhancers	Brain Hippocampus Middle	brain
24	chr2:114362000-114362400	Enhancers	Colon Smooth Muscle	Colon
25	chr2:114362000-114362400	Flanking Active TSS	Dnd41	blood
26	chr2:114362000-114362400	Enhancers	GM12878-XiMat	blood
27	chr2:114362000-114362400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:114362000-114362600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr2:114362000-114362800	Enhancers	Fetal Muscle Trunk	muscle
30	chr2:114362000-114362800	Enhancers	Fetal Thymus	thymus
31	chr2:114362000-114365400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:114362000-114365600	Weak transcription	K562	blood
33	chr2:114362200-114362400	Enhancers	Rectal Smooth Muscle	rectum
34	chr2:114362200-114362400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:114362200-114362400	Enhancers	HepG2	liver
36	chr2:114362200-114362600	Enhancers	Primary B cells from peripheral blood	blood
37	chr2:114362200-114362600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:114362200-114363600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:114362200-114380800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:114362200-114382800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:114362200-114383000	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:114362200-114383600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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