Variant report

Variant	rs73194416
Chromosome Location	chr13:50367273-50367274
allele	A/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	MAZ	chr13:50365947-50367527	K562	blood:	n/a	chr13:50366877-50366886 chr13:50366877-50366886 chr13:50366876-50366887
2	RAD21	chr13:50366606-50367367	HepG2	liver:	n/a	chr13:50366949-50366961
3	HEY1	chr13:50366414-50367598	HepG2	liver:	n/a	chr13:50366651-50366666 chr13:50366649-50366664 chr13:50366856-50366871 chr13:50366810-50366825
4	POLR2A	chr13:50366748-50367583	HCT-116	colon:	n/a	n/a
5	POLR2A	chr13:50366816-50367596	SK-N-MC	brain:	n/a	n/a
6	RCOR1	chr13:50366756-50367508	HepG2	liver:	n/a	n/a
7	TCF12	chr13:50366611-50367415	A549	lung:	n/a	n/a
8	POLR2A	chr13:50365905-50367540	GM12892	blood:	n/a	n/a
9	CREB1	chr13:50365934-50367817	HepG2	liver:	n/a	n/a
10	POLR2A	chr13:50366697-50367433	H1-hESC	embryonic stem cell:	n/a	n/a
11	NR2F2	chr13:50366958-50367484	K562	blood:	n/a	n/a
12	ZNF143	chr13:50365384-50367516	GM12878	blood:	n/a	chr13:50366068-50366078 chr13:50367069-50367087 chr13:50367076-50367091 chr13:50367069-50367078 chr13:50367073-50367092 chr13:50366365-50366375 chr13:50366320-50366330 chr13:50367071-50367080
13	POLR2A	chr13:50366943-50367541	U87	brain:	n/a	n/a
14	POLR2A	chr13:50366509-50367803	GM12878	blood:	n/a	n/a
15	NFYB	chr13:50367062-50367655	K562	blood:	n/a	n/a
16	TAF1	chr13:50367168-50367380	PFSK-1	brain:	n/a	n/a
17	RCOR1	chr13:50366783-50367574	GM12878	blood:	n/a	n/a
18	MAX	chr13:50366073-50367613	K562	blood:	n/a	chr13:50366877-50366886 chr13:50366877-50366886 chr13:50366876-50366887
19	WRNIP1	chr13:50366852-50367669	GM12878	blood:	n/a	n/a
20	HDAC2	chr13:50366697-50367291	HepG2	liver:	n/a	n/a
21	EGR1	chr13:50366749-50367398	ECC-1	luminal epithelium:	n/a	chr13:50367068-50367092 chr13:50367197-50367207 chr13:50366795-50366809 chr13:50367194-50367208 chr13:50367197-50367210
22	EGR1	chr13:50367090-50367303	GM12878	blood:	n/a	chr13:50367197-50367207 chr13:50367194-50367208 chr13:50367197-50367210
23	CUX1	chr13:50366925-50367455	GM12878	blood:	n/a	n/a
24	USF1	chr13:50366575-50367382	SK-N-SH	brain:	n/a	n/a
25	ATF2	chr13:50366922-50367551	H1-hESC	embryonic stem cell:	n/a	n/a
26	REST	chr13:50366707-50367470	SK-N-SH	brain:	n/a	chr13:50367287-50367300 chr13:50366983-50366997
27	USF1	chr13:50366712-50367349	SK-N-SH_RA	brain:	n/a	n/a
28	BHLHE40	chr13:50366566-50367565	K562	blood:	n/a	n/a
29	MAX	chr13:50365383-50367678	HCT-116	colon:	n/a	chr13:50366877-50366886 chr13:50366877-50366886 chr13:50366876-50366887
30	TBL1XR1	chr13:50366679-50367372	GM12878	blood:	n/a	n/a
31	POLR2A	chr13:50365803-50367475	GM12878	blood:	n/a	n/a
32	POLR2A	chr13:50365918-50367492	Gliobla	brain:	n/a	n/a
33	YY1	chr13:50365912-50367370	GM12878	blood:	n/a	chr13:50366861-50366875 chr13:50366199-50366213 chr13:50366799-50366813 chr13:50366433-50366444 chr13:50366653-50366667 chr13:50366204-50366218 chr13:50366364-50366378 chr13:50366451-50366460 chr13:50366272-50366286 chr13:50366859-50366870
34	EP300	chr13:50366313-50367327	ECC-1	luminal epithelium:	n/a	chr13:50366645-50366661 chr13:50366411-50366420 chr13:50366321-50366330 chr13:50366658-50366667 chr13:50367211-50367227 chr13:50366359-50366375 chr13:50366852-50366868 chr13:50366426-50366442 chr13:50366366-50366375
35	POLR2A	chr13:50366399-50367598	SK-N-SH	brain:	n/a	n/a
36	SIN3AK20	chr13:50366625-50367503	SK-N-SH	brain:	n/a	n/a
37	BHLHE40	chr13:50366529-50367473	GM12878	blood:	n/a	n/a
38	MAX	chr13:50365821-50367469	H1-hESC	embryonic stem cell:	n/a	chr13:50366877-50366886 chr13:50366877-50366886 chr13:50366876-50366887
39	TAF1	chr13:50366644-50367709	ECC-1	luminal epithelium:	n/a	n/a
40	TAF1	chr13:50366950-50367516	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr13:50366069-50367561	K562	blood:	n/a	n/a
42	GTF2F1	chr13:50366521-50367411	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr13:50366408-50367583	HCT-116	colon:	n/a	n/a
44	MAX	chr13:50365884-50367492	K562	blood:	n/a	chr13:50366877-50366886 chr13:50366877-50366886 chr13:50366876-50366887
45	POLR2A	chr13:50366707-50367519	Hela-S3	cervix:	n/a	n/a
46	TAF1	chr13:50366985-50367432	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr13:50366097-50367652	HUVEC	blood vessel:	n/a	n/a
48	TEAD4	chr13:50366699-50367416	ECC-1	luminal epithelium:	n/a	n/a
49	YY1	chr13:50366363-50367308	GM12891	blood:	n/a	chr13:50366861-50366875 chr13:50366799-50366813 chr13:50366433-50366444 chr13:50366653-50366667 chr13:50366364-50366378 chr13:50366451-50366460 chr13:50366859-50366870
50	MAX	chr13:50365957-50367598	HepG2	liver:	n/a	chr13:50366877-50366886 chr13:50366877-50366886 chr13:50366876-50366887

No.	Distal block	Cell Line	Cell type
1	chr13:50365172..50367900-chr13:50655465..50657230,2	K562	blood:
2	chr13:50262508..50268089-chr13:50363531..50368771,13	MCF-7	breast:
3	chr13:50367116..50367723-chr7:128170990..128171600,2	NB4	blood:
4	chr13:50261767..50269137-chr13:50365068..50368535,12	MCF-7	breast:
5	chr13:50366438..50367362-chr9:91925263..91926169,2	NB4	blood:
6	chr13:50365136..50367359-chr13:50509492..50511604,3	MCF-7	breast:
7	chr13:50366935..50367602-chr14:73524591..73525438,2	NB4	blood:
8	chr13:50366632..50367555-chr15:65588352..65589049,2	Hela-S3	cervix:
9	chr13:50365087..50367801-chr13:50569333..50572997,5	MCF-7	breast:
10	chr13:50263387..50266299-chr13:50365424..50368132,3	K562	blood:
11	chr12:57472055..57474451-chr13:50366783..50368850,2	K562	blood:
12	chr13:50278979..50281390-chr13:50365910..50368755,2	MCF-7	breast:
13	chr13:50242498..50244504-chr13:50366051..50367551,2	MCF-7	breast:
14	chr13:50366691..50367418-chr3:40350564..40351423,2	NB4	blood:
15	chr13:50263387..50265868-chr13:50365424..50368677,3	K562	blood:

Variant related genes	Relation type
KPNA3	TF binding region
ENSG00000203547	Chromatin interaction
ENSG00000123975	Chromatin interaction
ENSG00000231607	Chromatin interaction
ENSG00000114784	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000102753	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000273270	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000176124	Chromatin interaction
ENSG00000119707	Chromatin interaction
ENSG00000123179	Chromatin interaction
ENSG00000123178	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11617584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1885724	0.94[ASN][1000 genomes]
rs56286086	0.94[ASN][1000 genomes]
rs6650380	0.93[ASN][1000 genomes]
rs73194405	0.94[ASN][1000 genomes]
rs73194411	0.90[ASN][1000 genomes]
rs73194417	0.97[ASN][1000 genomes]
rs73194418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1818134	chr13:50306897-50374102	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv900074	chr13:50317104-50381016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv900075	chr13:50331992-50376858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv3421253	chr13:50364151-50368649	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	esv3433889	chr13:50365601-50367799	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
8	esv3339225	chr13:50366351-50367299	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73194416	EBPL	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50364000-50367600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:50364200-50367800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr13:50364600-50367600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:50364600-50367800	Active TSS	Aorta	Aorta
5	chr13:50364600-50368000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr13:50364600-50368000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:50364600-50368000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr13:50364800-50367600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:50364800-50367600	Active TSS	Colonic Mucosa	Colon
10	chr13:50364800-50367800	Active TSS	A549	lung
11	chr13:50364800-50368000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr13:50365000-50367400	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr13:50365000-50367400	Active TSS	Fetal Intestine Large	intestine
14	chr13:50365000-50367400	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr13:50365000-50367400	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr13:50365000-50367400	Active TSS	HMEC	breast
17	chr13:50365000-50367400	Active TSS	NHLF	lung
18	chr13:50365000-50367600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:50365000-50367600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:50365000-50367600	Active TSS	Fetal Intestine Small	intestine
21	chr13:50365000-50367600	Active TSS	Fetal Kidney	kidney
22	chr13:50365000-50367600	Active TSS	GM12878-XiMat	blood
23	chr13:50365000-50367600	Active TSS	K562	blood
24	chr13:50365000-50367600	Active TSS	NHDF-Ad	bronchial
25	chr13:50365000-50367800	Active TSS	HSMMtube	muscle
26	chr13:50365000-50368000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr13:50365000-50368000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:50365200-50367400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:50365200-50367400	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr13:50365200-50367400	Active TSS	Muscle Satellite Cultured Cells	--
31	chr13:50365200-50367400	Active TSS	Fetal Thymus	thymus
32	chr13:50365200-50367400	Active TSS	HSMM	muscle
33	chr13:50365200-50367600	Active TSS	Fetal Muscle Trunk	muscle
34	chr13:50365200-50367600	Active TSS	Fetal Muscle Leg	muscle
35	chr13:50365200-50367600	Active TSS	Placenta	Placenta
36	chr13:50365200-50367600	Active TSS	Psoas Muscle	Psoas
37	chr13:50365200-50367600	Active TSS	Stomach Mucosa	stomach
38	chr13:50365200-50367800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr13:50365200-50368000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:50365200-50368000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr13:50365200-50368000	Active TSS	Right Ventricle	heart
42	chr13:50365400-50367400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:50365400-50367400	Active TSS	Stomach Smooth Muscle	stomach
44	chr13:50365400-50367400	Active TSS	Hela-S3	cervix
45	chr13:50365400-50367400	Active TSS	Osteobl	bone
46	chr13:50365400-50367600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:50365400-50367600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:50365400-50367600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr13:50365400-50367600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr13:50365400-50367600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links