Variant report

Variant	rs60273960
Chromosome Location	chr14:68283011-68283012
allele	C/T
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	NFIC	chr14:68282974-68283627	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:68282565-68283750	MCF10A-Er-Src	breast:	n/a	n/a
3	CREB1	chr14:68282959-68283753	HepG2	liver:	n/a	n/a
4	YY1	chr14:68282928-68284056	GM12892	blood:	n/a	chr14:68283288-68283297 chr14:68283286-68283308
5	GABPA	chr14:68282894-68283782	MCF-7	breast:	n/a	n/a
6	TAF1	chr14:68282906-68283598	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr14:68282437-68284130	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr14:68282610-68284218	GM12878	blood:	n/a	n/a
9	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
10	MAZ	chr14:68282439-68283925	IMR90	lung:	n/a	chr14:68283422-68283431 chr14:68283422-68283431 chr14:68283420-68283433 chr14:68283422-68283431 chr14:68283219-68283229
11	USF1	chr14:68282959-68283675	H1-hESC	embryonic stem cell:	n/a	chr14:68283420-68283433 chr14:68283422-68283431 chr14:68283420-68283431 chr14:68283421-68283430 chr14:68283422-68283431 chr14:68283416-68283437 chr14:68283423-68283432
12	JUND	chr14:68282649-68283820	H1-hESC	embryonic stem cell:	n/a	chr14:68283418-68283426
13	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
14	POLR2A	chr14:68282980-68283889	GM12892	blood:	n/a	n/a
15	POLR2A	chr14:68282478-68283662	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr14:68282881-68283830	HUVEC	blood vessel:	n/a	n/a
17	REST	chr14:68282286-68284191	H1-neurons	neurons:	n/a	n/a
18	BCLAF1	chr14:68282972-68283779	GM12878	blood:	n/a	chr14:68283251-68283264 chr14:68283537-68283546
19	HDAC2	chr14:68282968-68283924	MCF-7	breast:	n/a	chr14:68283590-68283604 chr14:68283593-68283607 chr14:68283589-68283603 chr14:68283588-68283602
20	CEBPB	chr14:68282950-68283796	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:68282020-68283923	HepG2	liver:	n/a	n/a
22	ATF2	chr14:68282963-68283687	H1-hESC	embryonic stem cell:	n/a	chr14:68283426-68283437
23	POLR2A	chr14:68282954-68283687	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr14:68282719-68283864	K562	blood:	n/a	n/a
25	RFX5	chr14:68283007-68283609	Hela-S3	cervix:	n/a	n/a
26	ZEB1	chr14:68283001-68283750	GM12878	blood:	n/a	chr14:68283246-68283253 chr14:68283244-68283256
27	POLR2A	chr14:68282629-68283882	PBDE	blood:	n/a	n/a
28	POLR2A	chr14:68283001-68283836	GM12891	blood:	n/a	n/a
29	POLR2A	chr14:68282661-68283716	MCF10A-Er-Src	breast:	n/a	n/a
30	SIN3AK20	chr14:68282884-68283847	MCF-7	breast:	n/a	n/a
31	TAF1	chr14:68282974-68283590	K562	blood:	n/a	n/a
32	POLR2A	chr14:68282970-68283611	H1-hESC	embryonic stem cell:	n/a	n/a
33	GABPA	chr14:68282874-68283700	MCF-7	breast:	n/a	n/a
34	POLR2A	chr14:68282979-68283690	ECC-1	luminal epithelium:	n/a	n/a
35	YY1	chr14:68282969-68283664	HepG2	liver:	n/a	chr14:68283288-68283297 chr14:68283286-68283308
36	USF1	chr14:68283011-68283661	GM12878	blood:	n/a	chr14:68283420-68283433 chr14:68283422-68283431 chr14:68283420-68283431 chr14:68283421-68283430 chr14:68283422-68283431 chr14:68283416-68283437 chr14:68283423-68283432
37	YY1	chr14:68282920-68284027	GM12891	blood:	n/a	chr14:68283288-68283297 chr14:68283286-68283308
38	POLR2A	chr14:68282392-68283678	Hela-S3	cervix:	n/a	n/a
39	YY1	chr14:68282998-68283713	ECC-1	luminal epithelium:	n/a	chr14:68283288-68283297 chr14:68283286-68283308
40	USF1	chr14:68282989-68283702	SK-N-SH_RA	brain:	n/a	chr14:68283420-68283433 chr14:68283422-68283431 chr14:68283420-68283431 chr14:68283421-68283430 chr14:68283422-68283431 chr14:68283416-68283437 chr14:68283423-68283432
41	USF1	chr14:68282939-68283770	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
42	TAF1	chr14:68282887-68283816	ECC-1	luminal epithelium:	n/a	n/a
43	REST	chr14:68282978-68283833	H1-neurons	neurons:	n/a	n/a
44	SP1	chr14:68283003-68283685	H1-hESC	embryonic stem cell:	n/a	chr14:68283219-68283233 chr14:68283218-68283230 chr14:68283361-68283382 chr14:68283218-68283230
45	POLR2A	chr14:68282955-68283672	ProgFib	skin:	n/a	n/a
46	YY1	chr14:68282944-68283594	GM12892	blood:	n/a	chr14:68283288-68283297 chr14:68283286-68283308
47	POLR2A	chr14:68282996-68283994	GM19193	blood:	n/a	n/a
48	TAF1	chr14:68282661-68283673	H1-hESC	embryonic stem cell:	n/a	n/a
49	YY1	chr14:68283000-68283706	ECC-1	luminal epithelium:	n/a	chr14:68283288-68283297 chr14:68283286-68283308
50	USF1	chr14:68282975-68283744	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:68283005-68283055	HCF	heart:	n/a
2	chr14:68283005-68283055	SKMC	muscle:	n/a
3	chr14:68283005-68283055	LNCaP	prostate:	n/a
4	chr14:68283005-68283055	Jurkat	blood:	n/a
5	chr14:68283005-68283055	HAEpiC	amniotic membrane:	n/a
6	chr14:68283005-68283055	U87	brain:	n/a
7	chr14:68283005-68283055	K562	blood:	n/a
8	chr14:68283005-68283055	HCM	heart:	n/a
9	chr14:68283005-68283055	HUVEC	blood vessel:	n/a
10	chr14:68283005-68283055	NT2-D1	testis:	n/a
11	chr14:68283005-68283055	BE2_C	brain:	n/a
12	chr14:68283005-68283055	AG10803	skin:	n/a
13	chr14:68283005-68283055	ovcar-3	ovarian:	n/a
14	chr14:68283005-68283055	GM12892	blood:	n/a
15	chr14:68283005-68283055	RPTEC	kidney:	n/a
16	chr14:68283005-68283055	GM06990	blood:	n/a
17	chr14:68283005-68283055	HPAEpiC	pulmonary alveolar:	n/a
18	chr14:68283005-68283055	AG09319	gingival:	n/a
19	chr14:68283005-68283055	GM12878	blood:	n/a
20	chr14:68283005-68283055	SK-N-MC	brain:	n/a
21	chr14:68283005-68283055	HMEC	breast:	n/a
22	chr14:68283005-68283055	NHDF-neo	bronchial:	n/a
23	chr14:68283005-68283055	A549	lung:	n/a
24	chr14:68283005-68283055	HNPCEpiC	eye:	n/a
25	chr14:68283005-68283055	HCPEpiC	choroid plexus:	n/a
26	chr14:68283005-68283055	IMR90	lung:	fetal
27	chr14:68283005-68283055	MCF-7	breast:	n/a
28	chr14:68283005-68283055	NH-A	brain:	n/a
29	chr14:68283005-68283055	BJ	skin:	n/a
30	chr14:68283005-68283055	HRPEpiC	eye:	n/a
31	chr14:68283005-68283055	Hepatocyte	liver:	n/a
32	chr14:68283005-68283055	H1-hESC	embryonic stem cell:	embryo
33	chr14:68283005-68283055	MCF10A-Er-Src	breast:	n/a
34	chr14:68283005-68283055	SK-N-SH_RA	brain:	n/a
35	chr14:68283005-68283055	PANC-1	pancreas:	n/a
36	chr14:68283005-68283055	HIPEpiC	eye:	n/a
37	chr14:68283005-68283055	T-47D	breast:	n/a
38	chr14:68283005-68283055	Hela-S3	cervix:	n/a
39	chr14:68283005-68283055	GM12891	blood:	n/a
40	chr14:68283005-68283055	PFSK-1	brain:	n/a
41	chr14:68283005-68283055	CMK	blood:	n/a
42	chr14:68283005-68283055	HepG2	liver:	n/a
43	chr14:68283005-68283055	HEK293	kidney:	embryo
44	chr14:68283005-68283055	NB4	blood:	n/a
45	chr14:68283005-68283055	PrEC	prostate:	n/a
46	chr14:68283005-68283055	HRE	kidney:	n/a
47	chr14:68283005-68283055	AG04449	skin:	fetal
48	chr14:68283005-68283055	NHBE	bronchial:	n/a
49	chr14:68283005-68283055	AoSMC	blood vessel:	n/a
50	chr14:68283005-68283055	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:68282145..68286888-chr14:69256784..69261104,5	MCF-7	breast:
2	chr1:144533721..144534392-chr14:68282945..68283543,2	Hela-S3	cervix:
3	chr14:68193596..68197336-chr14:68281825..68284541,3	MCF-7	breast:
4	chr14:68282898..68283626-chrX:48775901..48776410,2	NB4	blood:
5	chr14:68281912..68284483-chr14:68287348..68290974,3	K562	blood:

Variant related genes	Relation type
RAD51B	TF binding region
RAD51B	CpG island
ENSG00000102096	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000182185	Chromatin interaction
ENSG00000139988	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs34805563	1.00[AMR][1000 genomes]
rs35080917	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35106153	1.00[AMR][1000 genomes]
rs35575056	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35577122	1.00[AMR][1000 genomes]
rs35917338	1.00[AMR][1000 genomes]
rs57024266	1.00[AMR][1000 genomes]
rs57048278	1.00[AMR][1000 genomes]
rs58431859	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58724136	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59429458	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59922989	1.00[AMR][1000 genomes]
rs60013875	1.00[AMR][1000 genomes]
rs60782801	1.00[AMR][1000 genomes]
rs61011477	1.00[AMR][1000 genomes]
rs61214213	1.00[AMR][1000 genomes]
rs61341378	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61584136	1.00[AMR][1000 genomes]
rs73274539	1.00[AMR][1000 genomes]
rs73276671	1.00[AMR][1000 genomes]
rs73276676	1.00[AMR][1000 genomes]
rs73276687	1.00[AMR][1000 genomes]
rs73278432	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278469	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280438	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280465	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280477	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280481	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280491	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282413	1.00[AMR][1000 genomes]
rs73282473	1.00[AMR][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	chr14:68282200-68283200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:68282200-68283800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:68282200-68283800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:68282200-68283800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:68282200-68283800	Active TSS	Psoas Muscle	Psoas
10	chr14:68282200-68284200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr14:68282200-68284200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr14:68282400-68283200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr14:68282400-68283200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:68282400-68283200	Flanking Active TSS	Liver	Liver
15	chr14:68282400-68283800	Active TSS	GM12878-XiMat	blood
16	chr14:68282400-68283800	Active TSS	K562	blood
17	chr14:68282400-68284000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:68282400-68284200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:68282400-68284200	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr14:68282400-68284200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr14:68282400-68284400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:68282600-68283600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:68282600-68283600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:68282600-68283600	Active TSS	Hela-S3	cervix
25	chr14:68282600-68283800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:68282600-68283800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:68282600-68283800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:68282600-68283800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:68282600-68283800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:68282600-68283800	Active TSS	Brain Cingulate Gyrus	brain
31	chr14:68282600-68283800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:68282600-68283800	Active TSS	Duodenum Mucosa	Duodenum
33	chr14:68282600-68283800	Active TSS	Fetal Intestine Large	intestine
34	chr14:68282600-68283800	Active TSS	Fetal Lung	lung
35	chr14:68282600-68283800	Active TSS	Left Ventricle	heart
36	chr14:68282600-68283800	Active TSS	Lung	lung
37	chr14:68282600-68283800	Active TSS	HMEC	breast
38	chr14:68282600-68283800	Active TSS	HSMM	muscle
39	chr14:68282600-68283800	Active TSS	HSMMtube	muscle
40	chr14:68282600-68284000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:68282600-68284000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr14:68282600-68284000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:68282600-68284000	Active TSS	Aorta	Aorta
44	chr14:68282600-68284000	Active TSS	Fetal Kidney	kidney
45	chr14:68282600-68284000	Active TSS	Ovary	ovary
46	chr14:68282600-68284000	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr14:68282600-68284000	Active TSS	NHDF-Ad	bronchial
48	chr14:68282600-68284000	Active TSS	NHLF	lung
49	chr14:68282600-68284200	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr14:68282600-68284200	Active TSS	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links