Variant report

Variant	rs1123749
Chromosome Location	chr14:36538172-36538173
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	MAX	chr14:36537953-36538304	ECC-1	luminal epithelium:	n/a	chr14:36538112-36538127 chr14:36538113-36538122 chr14:36538044-36538054
2	NFIC	chr14:36538069-36539255	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr14:36538117-36538218	MCF-7	breast:	n/a	n/a
4	MAX	chr14:36537937-36539077	ECC-1	luminal epithelium:	n/a	chr14:36538605-36538618 chr14:36538112-36538127 chr14:36538349-36538358 chr14:36538113-36538122 chr14:36538607-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538044-36538054 chr14:36538606-36538617
5	FOS	chr14:36538086-36538997	MCF10A-Er-Src	breast:	n/a	chr14:36538404-36538413 chr14:36538121-36538129 chr14:36538405-36538414 chr14:36538349-36538359 chr14:36538404-36538414 chr14:36538348-36538360 chr14:36538406-36538413 chr14:36538350-36538359 chr14:36538348-36538355
6	JUND	chr14:36538027-36540108	SK-N-SH	brain:	n/a	chr14:36538039-36538048 chr14:36538042-36538051 chr14:36538348-36538359 chr14:36538404-36538413 chr14:36538121-36538129 chr14:36538405-36538414 chr14:36538349-36538359 chr14:36538404-36538414 chr14:36538348-36538360 chr14:36538043-36538052 chr14:36538406-36538413 chr14:36538350-36538359 chr14:36538348-36538355 chr14:36538045-36538054
7	FOXM1	chr14:36538066-36539124	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr14:36538012-36538966	Hela-S3	cervix:	n/a	chr14:36538605-36538618 chr14:36538112-36538127 chr14:36538349-36538358 chr14:36538113-36538122 chr14:36538607-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538044-36538054 chr14:36538606-36538617
9	CTCF	chr14:36538100-36538250	HepG2	liver:	n/a	n/a
10	USF2	chr14:36538018-36538993	Hela-S3	cervix:	n/a	chr14:36538606-36538615 chr14:36538607-36538616 chr14:36538605-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538601-36538622
11	FOSL2	chr14:36538104-36538587	SK-N-SH	brain:	n/a	chr14:36538404-36538413 chr14:36538121-36538129 chr14:36538405-36538414 chr14:36538349-36538359 chr14:36538404-36538414 chr14:36538348-36538360 chr14:36538406-36538413 chr14:36538350-36538359 chr14:36538348-36538355
12	FOS	chr14:36538168-36538668	MCF10A-Er-Src	breast:	n/a	chr14:36538404-36538413 chr14:36538405-36538414 chr14:36538349-36538359 chr14:36538404-36538414 chr14:36538348-36538360 chr14:36538406-36538413 chr14:36538350-36538359 chr14:36538348-36538355
13	FOSL2	chr14:36538089-36538568	A549	lung:	n/a	chr14:36538404-36538413 chr14:36538121-36538129 chr14:36538405-36538414 chr14:36538349-36538359 chr14:36538404-36538414 chr14:36538348-36538360 chr14:36538406-36538413 chr14:36538350-36538359 chr14:36538348-36538355
14	POLR2A	chr14:36538105-36538183	A549	lung:	n/a	n/a
15	TCF12	chr14:36538028-36539078	ECC-1	luminal epithelium:	n/a	n/a
16	MYC	chr14:36537877-36538903	MCF10A-Er-Src	breast:	n/a	chr14:36538605-36538618 chr14:36538112-36538127 chr14:36538349-36538358 chr14:36538113-36538122 chr14:36538607-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538044-36538054 chr14:36538606-36538617
17	MAX	chr14:36537983-36539057	Hela-S3	cervix:	n/a	chr14:36538605-36538618 chr14:36538112-36538127 chr14:36538349-36538358 chr14:36538113-36538122 chr14:36538607-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538044-36538054 chr14:36538606-36538617
18	TCF12	chr14:36538152-36538733	ECC-1	luminal epithelium:	n/a	n/a
19	TEAD4	chr14:36538125-36538628	ECC-1	luminal epithelium:	n/a	n/a
20	RCOR1	chr14:36538140-36539028	Hela-S3	cervix:	n/a	n/a
21	MXI1	chr14:36538098-36538464	Hela-S3	cervix:	n/a	chr14:36538113-36538122
22	FOS	chr14:36538138-36539020	Hela-S3	cervix:	n/a	chr14:36538404-36538413 chr14:36538405-36538414 chr14:36538349-36538359 chr14:36538404-36538414 chr14:36538348-36538360 chr14:36538406-36538413 chr14:36538350-36538359 chr14:36538348-36538355
23	GTF2F1	chr14:36538035-36538318	Hela-S3	cervix:	n/a	n/a
24	FOS	chr14:36538168-36538732	MCF10A-Er-Src	breast:	n/a	chr14:36538404-36538413 chr14:36538405-36538414 chr14:36538349-36538359 chr14:36538404-36538414 chr14:36538348-36538360 chr14:36538406-36538413 chr14:36538350-36538359 chr14:36538348-36538355
25	TEAD4	chr14:36538087-36539187	ECC-1	luminal epithelium:	n/a	n/a
26	EP300	chr14:36537963-36539233	ECC-1	luminal epithelium:	n/a	chr14:36538682-36538691 chr14:36538404-36538413 chr14:36537978-36537987
27	RFX5	chr14:36538148-36539081	Hela-S3	cervix:	n/a	chr14:36538545-36538554 chr14:36538542-36538556
28	NFIC	chr14:36538061-36539322	ECC-1	luminal epithelium:	n/a	n/a
29	FOS	chr14:36538064-36539023	MCF10A-Er-Src	breast:	n/a	chr14:36538404-36538413 chr14:36538121-36538129 chr14:36538405-36538414 chr14:36538349-36538359 chr14:36538404-36538414 chr14:36538348-36538360 chr14:36538406-36538413 chr14:36538350-36538359 chr14:36538348-36538355
30	MYC	chr14:36538094-36538601	MCF10A-Er-Src	breast:	n/a	chr14:36538112-36538127 chr14:36538349-36538358 chr14:36538113-36538122
31	JUND	chr14:36538165-36538665	SK-N-SH	brain:	n/a	chr14:36538348-36538359 chr14:36538404-36538413 chr14:36538405-36538414 chr14:36538349-36538359 chr14:36538404-36538414 chr14:36538348-36538360 chr14:36538406-36538413 chr14:36538350-36538359 chr14:36538348-36538355
32	JUND	chr14:36538169-36538977	Hela-S3	cervix:	n/a	chr14:36538348-36538359 chr14:36538404-36538413 chr14:36538405-36538414 chr14:36538349-36538359 chr14:36538404-36538414 chr14:36538348-36538360 chr14:36538406-36538413 chr14:36538350-36538359 chr14:36538348-36538355

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:36530186..36532965-chr14:36536832..36539253,2	K562	blood:

Variant related genes	Relation type
LINC00609	TF binding region
ENSG00000257826	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10130001	0.82[AFR][1000 genomes]
rs10134855	1.00[AMR][1000 genomes]
rs10151821	1.00[AMR][1000 genomes]
rs11156901	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28376637	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28714317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28756783	1.00[AMR][1000 genomes]
rs7149973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7151051	0.97[AFR][1000 genomes]
rs7157182	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246547	1.00[AMR][1000 genomes]
rs73246551	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051045	chr14:36116503-36764947	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv542038	chr14:36116503-36764947	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1051147	chr14:36413342-36562863	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36524200-36538200	Weak transcription	Brain Hippocampus Middle	brain
2	chr14:36531000-36538400	Weak transcription	Brain Substantia Nigra	brain
3	chr14:36531400-36538400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:36536600-36538200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:36537000-36538400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:36537200-36538200	Enhancers	NHEK	skin
7	chr14:36537200-36538800	Enhancers	HSMMtube	muscle
8	chr14:36537200-36539400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:36537400-36538200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr14:36537600-36539600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:36537600-36539800	Enhancers	HMEC	breast
12	chr14:36538000-36538200	Enhancers	Pancreas	Pancrea
13	chr14:36538000-36538600	Flanking Active TSS	Osteobl	bone
14	chr14:36538000-36538800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr14:36538000-36538800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:36538000-36538800	Enhancers	HSMM	muscle
17	chr14:36538000-36539000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:36538000-36539000	Flanking Active TSS	Hela-S3	cervix
19	chr14:36538000-36539200	Enhancers	NH-A	brain
20	chr14:36538000-36539600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:36538000-36539600	Enhancers	NHDF-Ad	bronchial
22	chr14:36538000-36539800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:36538000-36539800	Enhancers	Liver	Liver
24	chr14:36538000-36540200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:36538000-36540400	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links