Variant report

Variant	rs72723196
Chromosome Location	chr14:68283697-68283698
allele	C/G
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	BCL3	chr14:68283300-68283705	GM12878	blood:	n/a	chr14:68283537-68283546
2	CREB1	chr14:68283099-68283839	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:68282565-68283750	MCF10A-Er-Src	breast:	n/a	n/a
4	ZNF384	chr14:68283146-68283838	GM12878	blood:	n/a	n/a
5	CREB1	chr14:68282959-68283753	HepG2	liver:	n/a	n/a
6	YY1	chr14:68282928-68284056	GM12892	blood:	n/a	chr14:68283288-68283297 chr14:68283286-68283308
7	GABPA	chr14:68282894-68283782	MCF-7	breast:	n/a	n/a
8	STAT3	chr14:68283249-68283754	GM12878	blood:	n/a	chr14:68283535-68283546
9	MXI1	chr14:68282437-68284130	SK-N-SH	brain:	n/a	n/a
10	TCF3	chr14:68283190-68283708	GM12878	blood:	n/a	chr14:68283558-68283568 chr14:68283247-68283260 chr14:68283556-68283570
11	EP300	chr14:68283213-68283778	GM12878	blood:	n/a	chr14:68283537-68283551 chr14:68283471-68283480 chr14:68283595-68283609
12	POLR2A	chr14:68282610-68284218	GM12878	blood:	n/a	n/a
13	ZNF143	chr14:68283119-68283836	GM12878	blood:	n/a	n/a
14	USF1	chr14:68282823-68283759	ECC-1	luminal epithelium:	n/a	chr14:68283420-68283433 chr14:68283422-68283431 chr14:68283420-68283431 chr14:68283421-68283430 chr14:68283422-68283431 chr14:68283416-68283437 chr14:68283423-68283432
15	MAX	chr14:68283151-68283718	K562	blood:	n/a	chr14:68283422-68283431 chr14:68283422-68283431 chr14:68283420-68283433 chr14:68283422-68283431 chr14:68283219-68283229
16	MAZ	chr14:68282439-68283925	IMR90	lung:	n/a	chr14:68283422-68283431 chr14:68283422-68283431 chr14:68283420-68283433 chr14:68283422-68283431 chr14:68283219-68283229
17	REST	chr14:68283099-68283817	A549	lung:	n/a	n/a
18	MAX	chr14:68283181-68283984	GM12878	blood:	n/a	chr14:68283422-68283431 chr14:68283422-68283431 chr14:68283420-68283433 chr14:68283422-68283431 chr14:68283219-68283229
19	JUND	chr14:68282649-68283820	H1-hESC	embryonic stem cell:	n/a	chr14:68283418-68283426
20	SPI1	chr14:68283207-68283749	HL-60	blood:	n/a	n/a
21	POLR2A	chr14:68283078-68283710	SK-N-MC	brain:	n/a	n/a
22	USF1	chr14:68282964-68283748	A549	lung:	n/a	chr14:68283420-68283433 chr14:68283422-68283431 chr14:68283420-68283431 chr14:68283421-68283430 chr14:68283422-68283431 chr14:68283416-68283437 chr14:68283423-68283432
23	POLR2A	chr14:68282980-68283889	GM12892	blood:	n/a	n/a
24	POLR2A	chr14:68282881-68283830	HUVEC	blood vessel:	n/a	n/a
25	REST	chr14:68282286-68284191	H1-neurons	neurons:	n/a	n/a
26	BCLAF1	chr14:68282972-68283779	GM12878	blood:	n/a	chr14:68283251-68283264 chr14:68283537-68283546
27	SIN3A	chr14:68283047-68283756	GM12878	blood:	n/a	chr14:68283421-68283430 chr14:68283517-68283525
28	HDAC2	chr14:68282968-68283924	MCF-7	breast:	n/a	chr14:68283590-68283604 chr14:68283593-68283607 chr14:68283589-68283603 chr14:68283588-68283602
29	IRF1	chr14:68283083-68283712	K562	blood:	n/a	chr14:68283534-68283545 chr14:68283536-68283546
30	JUND	chr14:68283153-68283754	K562	blood:	n/a	chr14:68283418-68283426
31	CEBPB	chr14:68282950-68283796	GM12878	blood:	n/a	n/a
32	MTA3	chr14:68283068-68283781	GM12878	blood:	n/a	n/a
33	MYBL2	chr14:68283078-68283728	HepG2	liver:	n/a	n/a
34	POLR2A	chr14:68282020-68283923	HepG2	liver:	n/a	n/a
35	MAX	chr14:68283040-68283764	A549	lung:	n/a	chr14:68283422-68283431 chr14:68283422-68283431 chr14:68283420-68283433 chr14:68283422-68283431 chr14:68283219-68283229
36	PML	chr14:68283046-68283901	GM12878	blood:	n/a	n/a
37	POU2F2	chr14:68283104-68283746	GM12878	blood:	n/a	chr14:68283334-68283346
38	TCF12	chr14:68283169-68283727	GM12878	blood:	n/a	n/a
39	POU2F2	chr14:68283063-68283715	GM12891	blood:	n/a	chr14:68283334-68283346
40	POLR2A	chr14:68282719-68283864	K562	blood:	n/a	n/a
41	ZEB1	chr14:68283001-68283750	GM12878	blood:	n/a	chr14:68283246-68283253 chr14:68283244-68283256
42	POLR2A	chr14:68282629-68283882	PBDE	blood:	n/a	n/a
43	POLR2A	chr14:68283001-68283836	GM12891	blood:	n/a	n/a
44	POLR2A	chr14:68282661-68283716	MCF10A-Er-Src	breast:	n/a	n/a
45	SIN3AK20	chr14:68282884-68283847	MCF-7	breast:	n/a	n/a
46	ZNF217	chr14:68283407-68283750	MCF-7	breast:	n/a	n/a
47	MAX	chr14:68283037-68283813	MCF-7	breast:	n/a	chr14:68283422-68283431 chr14:68283422-68283431 chr14:68283420-68283433 chr14:68283422-68283431 chr14:68283219-68283229
48	ZNF384	chr14:68283388-68283741	K562	blood:	n/a	n/a
49	POLR2A	chr14:68283086-68283715	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr14:68283077-68283766	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:68282145..68286888-chr14:69256784..69261104,5	MCF-7	breast:
2	chr14:68193596..68197336-chr14:68281825..68284541,3	MCF-7	breast:
3	chr14:68281912..68284483-chr14:68287348..68290974,3	K562	blood:

Variant related genes	Relation type
RAD51B	TF binding region
ZFYVE26	TF binding region
ENSG00000185650	Chromatin interaction
ENSG00000182185	Chromatin interaction
ENSG00000139988	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10130919	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10131048	0.81[AMR][1000 genomes]
rs10133239	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10135927	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10137614	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10137930	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10141638	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10146380	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10150007	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040598	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10873208	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11158694	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158697	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11158700	0.85[AMR][1000 genomes]
rs11158701	0.85[AMR][1000 genomes]
rs11620947	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11621019	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622521	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11622535	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11623756	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11626332	0.82[AMR][1000 genomes]
rs11626590	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626778	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11627100	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11627417	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11627565	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11844492	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11847628	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12431490	0.84[AMR][1000 genomes]
rs12432558	0.81[AMR][1000 genomes]
rs12433710	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434751	0.84[AMR][1000 genomes]
rs12891164	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893157	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543391	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17783094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17783124	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17783160	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1810523	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181561	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181562	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181563	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs181564	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181565	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181566	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs181567	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181570	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181572	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs181574	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181575	0.84[EUR][1000 genomes]
rs181576	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956345	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1956346	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1956347	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1956348	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1964828	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2235963	0.81[AMR][1000 genomes]
rs2235967	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2295105	0.80[ASN][1000 genomes]
rs2295106	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2295107	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331403	0.83[EUR][1000 genomes]
rs28373844	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28604984	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28623567	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28713367	0.84[AMR][1000 genomes]
rs2874132	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34759521	0.80[ASN][1000 genomes]
rs35272075	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4143685	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4284565	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4402486	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4902519	0.81[AMR][1000 genomes]
rs55854324	1.00[ASN][1000 genomes]
rs55867043	0.87[ASN][1000 genomes]
rs55999745	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7142433	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143196	1.00[ASN][1000 genomes]
rs7143496	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150705	0.81[AMR][1000 genomes]
rs7150903	0.81[AMR][1000 genomes]
rs7151495	0.88[AMR][1000 genomes]
rs7154635	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7159109	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7159489	0.82[AMR][1000 genomes]
rs7159622	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159982	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160196	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72723202	1.00[ASN][1000 genomes]
rs72725103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725114	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725127	0.84[AMR][1000 genomes]
rs764088	0.86[AMR][1000 genomes]
rs8003431	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8004611	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006089	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8010086	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8011120	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011690	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8012974	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017013	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8018709	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs932555	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr14:68281400-68284200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr14:68281600-68284200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:68282000-68283800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:68282000-68284000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:68282200-68283800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:68282200-68283800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:68282200-68283800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:68282200-68283800	Active TSS	Psoas Muscle	Psoas
9	chr14:68282200-68284200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr14:68282200-68284200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr14:68282400-68283800	Active TSS	GM12878-XiMat	blood
12	chr14:68282400-68283800	Active TSS	K562	blood
13	chr14:68282400-68284000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:68282400-68284200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:68282400-68284200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr14:68282400-68284200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr14:68282400-68284400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr14:68282600-68283800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:68282600-68283800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:68282600-68283800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:68282600-68283800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:68282600-68283800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:68282600-68283800	Active TSS	Brain Cingulate Gyrus	brain
24	chr14:68282600-68283800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:68282600-68283800	Active TSS	Duodenum Mucosa	Duodenum
26	chr14:68282600-68283800	Active TSS	Fetal Intestine Large	intestine
27	chr14:68282600-68283800	Active TSS	Fetal Lung	lung
28	chr14:68282600-68283800	Active TSS	Left Ventricle	heart
29	chr14:68282600-68283800	Active TSS	Lung	lung
30	chr14:68282600-68283800	Active TSS	HMEC	breast
31	chr14:68282600-68283800	Active TSS	HSMM	muscle
32	chr14:68282600-68283800	Active TSS	HSMMtube	muscle
33	chr14:68282600-68284000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:68282600-68284000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr14:68282600-68284000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:68282600-68284000	Active TSS	Aorta	Aorta
37	chr14:68282600-68284000	Active TSS	Fetal Kidney	kidney
38	chr14:68282600-68284000	Active TSS	Ovary	ovary
39	chr14:68282600-68284000	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr14:68282600-68284000	Active TSS	NHDF-Ad	bronchial
41	chr14:68282600-68284000	Active TSS	NHLF	lung
42	chr14:68282600-68284200	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr14:68282600-68284200	Active TSS	H1 Cell Line	embryonic stem cell
44	chr14:68282600-68284200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:68282600-68284200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:68282600-68284200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:68282600-68284200	Active TSS	Muscle Satellite Cultured Cells	--
48	chr14:68282600-68284200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:68282600-68284200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:68282600-68284200	Active TSS	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links