Variant report

Variant	rs73243131
Chromosome Location	chr4:15679035-15679036
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	STAT3	chr4:15678790-15679953	MCF10A-Er-Src	breast:	n/a	chr4:15679695-15679706 chr4:15679836-15679844
2	JUND	chr4:15678865-15679551	HepG2	liver:	n/a	chr4:15679202-15679213
3	FOS	chr4:15678772-15680526	MCF10A-Er-Src	breast:	n/a	chr4:15679403-15679414
4	FOS	chr4:15678814-15679674	MCF10A-Er-Src	breast:	n/a	chr4:15679403-15679414
5	FOS	chr4:15678662-15679792	MCF10A-Er-Src	breast:	n/a	chr4:15679403-15679414
6	SRF	chr4:15678992-15679823	ECC-1	luminal epithelium:	n/a	chr4:15679450-15679468
7	STAT3	chr4:15678737-15679113	MCF10A-Er-Src	breast:	n/a	n/a
8	JUND	chr4:15678534-15679672	K562	blood:	n/a	chr4:15679202-15679213
9	POLR2A	chr4:15678622-15679823	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr4:15678913-15679692	SK-N-SH	brain:	n/a	chr4:15679404-15679415
11	JUND	chr4:15678896-15679626	Hela-S3	cervix:	n/a	chr4:15679202-15679213
12	ATF3	chr4:15678850-15679197	K562	blood:	n/a	n/a
13	FOS	chr4:15678886-15679956	MCF10A-Er-Src	breast:	n/a	chr4:15679403-15679414
14	FOS	chr4:15678578-15679694	HUVEC	blood vessel:	n/a	chr4:15679403-15679414
15	SRF	chr4:15678960-15679936	HCT-116	colon:	n/a	chr4:15679450-15679468
16	POLR2A	chr4:15678926-15680250	MCF10A-Er-Src	breast:	n/a	n/a
17	FOSL2	chr4:15678998-15679706	A549	lung:	n/a	chr4:15679404-15679415
18	FOSL2	chr4:15678972-15679625	HepG2	liver:	n/a	chr4:15679404-15679415
19	CUX1	chr4:15679020-15679472	K562	blood:	n/a	n/a
20	POLR2A	chr4:15678897-15679750	H1-hESC	embryonic stem cell:	n/a	n/a
21	SRF	chr4:15678923-15679955	HCT-116	colon:	n/a	chr4:15679450-15679468
22	JUN	chr4:15678874-15679658	K562	blood:	n/a	n/a
23	JUN	chr4:15679027-15679466	HepG2	liver:	n/a	n/a
24	GTF2F1	chr4:15679025-15679678	Hela-S3	cervix:	n/a	n/a
25	SRF	chr4:15679021-15679916	MCF-7	breast:	n/a	chr4:15679450-15679468
26	STAT3	chr4:15678768-15679792	MCF10A-Er-Src	breast:	n/a	chr4:15679695-15679706

No.	Distal block	Cell Line	Cell type
1	chr4:15659126..15661222-chr4:15677719..15679356,2	MCF-7	breast:
2	chr4:15662285..15665284-chr4:15678264..15680948,2	MCF-7	breast:
3	chr4:15673240..15674969-chr4:15677739..15681015,3	MCF-7	breast:
4	chr4:15651703..15660794-chr4:15677607..15686235,25	K562	blood:
5	chr4:15652080..15658606-chr4:15677363..15685579,17	MCF-7	breast:
6	chr4:15650206..15660298-chr4:15677140..15687517,25	K562	blood:

Variant related genes	Relation type
FAM200B	TF binding region
ENSG00000118564	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs16892232	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17385861	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17385951	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17405797	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17476879	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302465	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2302469	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3756245	0.84[EUR][1000 genomes]
rs3822258	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4279202	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55735476	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55757331	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs55784324	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55803452	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55963737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56065468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56093715	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094420	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56149419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56166932	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224650	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73224656	0.87[EUR][1000 genomes]
rs73224663	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73237171	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237172	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237182	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237198	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239165	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239167	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239174	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239175	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239182	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239189	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239191	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239193	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241109	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241111	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241112	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241117	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241120	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241185	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241191	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243132	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243135	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7683000	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv3361772	chr4:15666732-15684418	Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15657600-15681400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:15658000-15681400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:15658200-15679200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:15658200-15679200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:15658200-15682200	Weak transcription	Fetal Stomach	stomach
6	chr4:15660400-15679200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:15664800-15681800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:15668400-15682800	Weak transcription	Fetal Brain Male	brain
9	chr4:15668600-15681400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:15669600-15681400	Weak transcription	Thymus	Thymus
11	chr4:15671000-15679200	Weak transcription	Fetal Heart	heart
12	chr4:15671000-15679400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:15671000-15681600	Weak transcription	Fetal Lung	lung
14	chr4:15673200-15680800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr4:15673800-15682800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:15674000-15679200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:15674200-15679200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:15674400-15680400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:15674800-15679200	Weak transcription	Fetal Thymus	thymus
20	chr4:15675200-15682600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:15677000-15679200	Active TSS	GM12878-XiMat	blood
22	chr4:15677400-15682800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr4:15677600-15679200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr4:15677600-15682800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:15677800-15680000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:15677800-15681000	Weak transcription	Primary B cells from cord blood	blood
27	chr4:15678200-15679200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:15678600-15679200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:15678600-15679200	Strong transcription	HSMM	muscle
30	chr4:15678600-15679600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:15678600-15679600	Flanking Active TSS	A549	lung
32	chr4:15678600-15679800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:15678600-15679800	Enhancers	HMEC	breast
34	chr4:15678600-15680000	Enhancers	Liver	Liver
35	chr4:15678600-15680200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:15678600-15680200	Enhancers	Fetal Intestine Large	intestine
37	chr4:15678600-15680800	Enhancers	NHLF	lung
38	chr4:15678600-15681200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:15678600-15681600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:15678800-15679200	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr4:15678800-15679200	Enhancers	NHDF-Ad	bronchial
42	chr4:15678800-15679600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:15678800-15679800	Flanking Active TSS	K562	blood
44	chr4:15678800-15680000	Enhancers	Duodenum Mucosa	Duodenum
45	chr4:15678800-15680400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:15678800-15681400	Enhancers	Osteobl	bone
47	chr4:15679000-15679200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr4:15679000-15679200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr4:15679000-15679200	Flanking Active TSS	NH-A	brain
50	chr4:15679000-15679400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links