Variant report

Variant	rs12649592
Chromosome Location	chr4:144293524-144293525
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	PML	chr4:144293503-144293899	GM12878	blood:	n/a	n/a
2	IRF4	chr4:144293449-144293970	GM12878	blood:	n/a	n/a
3	ZNF384	chr4:144293290-144293926	GM12878	blood:	n/a	n/a
4	BCLAF1	chr4:144293238-144294109	GM12878	blood:	n/a	n/a
5	ATF2	chr4:144293374-144294131	GM12878	blood:	n/a	n/a
6	MAX	chr4:144293325-144294080	GM12878	blood:	n/a	n/a
7	RUNX3	chr4:144293008-144294130	GM12878	blood:	n/a	n/a
8	NFIC	chr4:144293382-144294205	GM12878	blood:	n/a	n/a
9	MEF2A	chr4:144293343-144294108	GM12878	blood:	n/a	n/a
10	EP300	chr4:144293478-144294041	GM12878	blood:	n/a	n/a
11	EP300	chr4:144293318-144294195	GM12878	blood:	n/a	n/a
12	MEF2C	chr4:144293436-144294113	GM12878	blood:	n/a	n/a
13	MAZ	chr4:144293175-144294017	GM12878	blood:	n/a	n/a
14	PAX5	chr4:144293403-144294079	GM12878	blood:	n/a	n/a
15	ZNF143	chr4:144293325-144294064	GM12878	blood:	n/a	n/a
16	IRF4	chr4:144293362-144294002	GM12878	blood:	n/a	n/a
17	RAD21	chr4:144293411-144294006	GM12878	blood:	n/a	n/a
18	EBF1	chr4:144293163-144294140	GM12878	blood:	n/a	n/a
19	POU2F2	chr4:144293505-144294076	GM12878	blood:	n/a	n/a
20	PAX5	chr4:144293437-144294010	GM12878	blood:	n/a	n/a
21	MTA3	chr4:144293316-144294148	GM12878	blood:	n/a	n/a
22	CHD1	chr4:144293294-144294050	GM12878	blood:	n/a	n/a
23	MTA3	chr4:144293262-144294196	GM12878	blood:	n/a	n/a
24	POU2F2	chr4:144293396-144294160	GM12878	blood:	n/a	n/a
25	WRNIP1	chr4:144293402-144294094	GM12878	blood:	n/a	n/a
26	NFATC1	chr4:144293322-144294129	GM12878	blood:	n/a	n/a
27	YY1	chr4:144293373-144294031	GM12878	blood:	n/a	n/a
28	BATF	chr4:144293469-144293997	GM12878	blood:	n/a	chr4:144293727-144293738
29	MEF2A	chr4:144293380-144294123	GM12878	blood:	n/a	n/a
30	BCL11A	chr4:144293420-144294104	GM12878	blood:	n/a	n/a
31	FOXM1	chr4:144293303-144294189	GM12878	blood:	n/a	n/a
32	STAT5A	chr4:144293487-144294036	GM12878	blood:	n/a	n/a
33	CREB1	chr4:144293375-144294035	GM12878	blood:	n/a	n/a
34	BHLHE40	chr4:144293281-144294215	GM12878	blood:	n/a	n/a
35	STAT3	chr4:144293457-144294109	GM12878	blood:	n/a	n/a
36	SP1	chr4:144293522-144294022	GM12878	blood:	n/a	n/a
37	NFATC1	chr4:144293375-144294160	GM12878	blood:	n/a	n/a
38	BATF	chr4:144293442-144294070	GM12878	blood:	n/a	chr4:144293727-144293738
39	ATF2	chr4:144293283-144294071	GM12878	blood:	n/a	n/a
40	MXI1	chr4:144293496-144294077	GM12878	blood:	n/a	n/a
41	RCOR1	chr4:144293315-144294029	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:144293464-144294131	GM12878	blood:	n/a	n/a
43	SMC3	chr4:144293465-144294031	GM12878	blood:	n/a	n/a
44	POU2F2	chr4:144293405-144294140	GM12891	blood:	n/a	n/a
45	RUNX3	chr4:144292906-144294232	GM12878	blood:	n/a	n/a
46	CEBPB	chr4:144292998-144294244	GM12878	blood:	n/a	n/a
47	PML	chr4:144293286-144294181	GM12878	blood:	n/a	n/a
48	TBL1XR1	chr4:144293297-144294124	GM12878	blood:	n/a	n/a
49	BCLAF1	chr4:144293417-144294065	GM12878	blood:	n/a	n/a
50	EP300	chr4:144293413-144294269	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	chr4:144292852..144297100-chr4:144298409..144302941,5	K562	blood:

No data

Variant related genes	Relation type
GAB1	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10013047	0.98[ASN][1000 genomes]
rs1027851	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1027852	0.98[ASN][1000 genomes]
rs11100786	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11100787	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11100788	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11100789	0.83[ASN][1000 genomes]
rs11730569	0.97[ASN][1000 genomes]
rs11945731	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12647531	0.97[ASN][1000 genomes]
rs13101346	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13123498	0.96[ASN][1000 genomes]
rs1397526	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1397527	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1397528	0.84[ASN][1000 genomes]
rs1472873	0.97[ASN][1000 genomes]
rs1510879	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1510880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866756	0.98[ASN][1000 genomes]
rs2048408	0.96[ASN][1000 genomes]
rs2055730	0.97[ASN][1000 genomes]
rs2119270	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2196908	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2196909	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs300910	0.89[ASN][1000 genomes]
rs300911	0.85[ASN][1000 genomes]
rs300912	0.85[ASN][1000 genomes]
rs300913	0.85[ASN][1000 genomes]
rs300914	0.85[ASN][1000 genomes]
rs300915	0.85[ASN][1000 genomes]
rs300916	0.84[ASN][1000 genomes]
rs300917	0.81[ASN][1000 genomes]
rs300918	0.81[ASN][1000 genomes]
rs34095331	0.87[ASN][1000 genomes]
rs34439737	0.90[ASN][1000 genomes]
rs3792652	0.98[ASN][1000 genomes]
rs3792653	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3792655	0.97[ASN][1000 genomes]
rs3805238	0.86[ASN][1000 genomes]
rs3805245	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805246	0.97[ASN][1000 genomes]
rs3805247	0.98[ASN][1000 genomes]
rs3805249	0.97[ASN][1000 genomes]
rs3805251	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805252	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805254	0.97[ASN][1000 genomes]
rs3805256	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805257	0.95[ASN][1000 genomes]
rs3805261	0.82[JPT][hapmap]
rs3828512	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3828513	0.97[ASN][1000 genomes]
rs3828514	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55758499	0.97[ASN][1000 genomes]
rs55894236	0.97[ASN][1000 genomes]
rs6537154	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6537155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713140	0.95[ASN][1000 genomes]
rs719392	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7679870	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7680959	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs906571	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018566	chr4:144284927-144298930	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
2	nsv437941	chr4:144285683-144295952	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv1021714	chr4:144288438-144299191	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv1033347	chr4:144288438-144299563	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:144277400-144296800	Weak transcription	HSMMtube	muscle
3	chr4:144281200-144296800	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:144281400-144296800	Weak transcription	Fetal Kidney	kidney
5	chr4:144283000-144295400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:144283000-144302200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:144284000-144293600	Weak transcription	Spleen	Spleen
8	chr4:144284000-144296600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:144284000-144296600	Weak transcription	Fetal Thymus	thymus
10	chr4:144284200-144295600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:144284400-144299400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:144284600-144295200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:144284600-144295200	Weak transcription	K562	blood
14	chr4:144284800-144295600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:144286000-144294600	Weak transcription	Placenta	Placenta
16	chr4:144286000-144295800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:144286000-144298200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:144287400-144294400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:144288200-144296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:144291000-144295800	Weak transcription	Small Intestine	intestine
21	chr4:144291000-144299800	Weak transcription	Pancreas	Pancrea
22	chr4:144291400-144293600	Weak transcription	Adipose Nuclei	Adipose
23	chr4:144291400-144296600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:144291400-144296600	Weak transcription	Fetal Lung	lung
25	chr4:144291600-144293600	Weak transcription	Brain Angular Gyrus	brain
26	chr4:144291600-144293600	Weak transcription	Gastric	stomach
27	chr4:144291600-144293600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:144291600-144294600	Weak transcription	Left Ventricle	heart
29	chr4:144291600-144295400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:144291600-144295600	Weak transcription	Fetal Intestine Small	intestine
31	chr4:144291600-144295600	Weak transcription	Fetal Stomach	stomach
32	chr4:144291600-144295800	Weak transcription	Aorta	Aorta
33	chr4:144291600-144296200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr4:144291600-144296200	Weak transcription	Lung	lung
35	chr4:144291600-144296600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:144291600-144296600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:144291600-144296600	Weak transcription	Right Atrium	heart
38	chr4:144291600-144296800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:144291600-144299400	Weak transcription	Fetal Intestine Large	intestine
40	chr4:144291800-144302200	Weak transcription	Esophagus	oesophagus
41	chr4:144293000-144294200	Enhancers	GM12878-XiMat	blood
42	chr4:144293000-144294400	Enhancers	Primary B cells from peripheral blood	blood
43	chr4:144293000-144294800	Enhancers	Primary B cells from cord blood	blood
44	chr4:144293200-144293600	Enhancers	Ovary	ovary
45	chr4:144293200-144293600	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr4:144293200-144294000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:144293200-144294000	Enhancers	Osteobl	bone
48	chr4:144293200-144294200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:144293200-144294200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr4:144293200-144294400	Enhancers	Rectal Smooth Muscle	rectum

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