Variant report

Variant	rs1816184
Chromosome Location	chr4:79700596-79700597
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	chr4:79700507-79700814	K562	blood:	n/a	chr4:79700715-79700725
2	POLR2A	chr4:79695600-79704800	PBDE	blood:	n/a	n/a
3	FOS	chr4:79700582-79700863	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr4:79700522-79700826	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:79700210-79700890	GM12878	blood:	n/a	n/a
6	STAT1	chr4:79700499-79700751	GM12878	blood:	n/a	n/a
7	EP300	chr4:79700363-79700909	GM12878	blood:	n/a	n/a
8	IRF1	chr4:79698043-79700891	K562	blood:	n/a	chr4:79699678-79699685 chr4:79698149-79698158 chr4:79699001-79699011 chr4:79698997-79699011 chr4:79699699-79699716
9	MXI1	chr4:79700564-79700845	K562	blood:	n/a	n/a
10	ARID3A	chr4:79700464-79700642	K562	blood:	n/a	n/a
11	FOXA1	chr4:79700384-79700817	HepG2	liver:	n/a	n/a
12	POLR2A	chr4:79699817-79701630	GM12878	blood:	n/a	n/a
13	MAX	chr4:79700549-79700872	K562	blood:	n/a	chr4:79700715-79700725
14	MYC	chr4:79700532-79700739	NB4	blood:	n/a	chr4:79700715-79700725
15	FOXA2	chr4:79700475-79700715	HepG2	liver:	n/a	n/a
16	MYC	chr4:79700572-79700866	MCF10A-Er-Src	breast:	n/a	chr4:79700715-79700725
17	POLR2A	chr4:79700587-79700875	K562	blood:	n/a	n/a
18	POLR2A	chr4:79699498-79704548	K562	blood:	n/a	n/a
19	CREB1	chr4:79700508-79700824	GM12878	blood:	n/a	n/a
20	UBTF	chr4:79700573-79700759	K562	blood:	n/a	n/a
21	UBTF	chr4:79699373-79700760	K562	blood:	n/a	n/a
22	TBP	chr4:79700275-79700846	GM12878	blood:	n/a	n/a
23	MAX	chr4:79700593-79700765	NB4	blood:	n/a	chr4:79700715-79700725
24	POLR2A	chr4:79700389-79700775	K562	blood:	n/a	n/a
25	CHD1	chr4:79700254-79700835	GM12878	blood:	n/a	n/a
26	ZMIZ1	chr4:79700393-79700802	K562	blood:	n/a	n/a
27	MXI1	chr4:79700412-79700919	GM12878	blood:	n/a	n/a
28	TEAD4	chr4:79699532-79701679	K562	blood:	n/a	n/a
29	EP300	chr4:79700294-79700823	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:79699514-79703652	GM12891	blood:	n/a	n/a
31	BCLAF1	chr4:79699900-79700773	K562	blood:	n/a	n/a
32	TBL1XR1	chr4:79698151-79701864	K562	blood:	n/a	n/a
33	MYC	chr4:79700519-79701628	K562	blood:	n/a	chr4:79700715-79700725
34	KAP1	chr4:79700279-79700699	K562	blood:	n/a	n/a
35	IRF1	chr4:79700076-79701596	K562	blood:	n/a	n/a
36	CCNT2	chr4:79700525-79700775	K562	blood:	n/a	n/a
37	BHLHE40	chr4:79700570-79700995	K562	blood:	n/a	n/a
38	MYC	chr4:79700567-79700802	MCF10A-Er-Src	breast:	n/a	chr4:79700715-79700725
39	MYC	chr4:79700190-79700902	K562	blood:	n/a	chr4:79700715-79700725
40	PML	chr4:79699511-79703925	K562	blood:	n/a	n/a
41	POLR2A	chr4:79700382-79701085	K562	blood:	n/a	n/a
42	PBX3	chr4:79700590-79700762	GM12878	blood:	n/a	n/a
43	IRF3	chr4:79700358-79700629	GM12878	blood:	n/a	n/a
44	FOXA1	chr4:79700499-79700757	HepG2	liver:	n/a	n/a
45	EBF1	chr4:79700531-79700731	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:79700005..79702087-chr4:79782609..79785586,2	MCF-7	breast:
2	chr4:79699190..79702080-chr4:79704302..79706989,3	MCF-7	breast:
3	chr4:79593540..79596329-chr4:79699312..79702683,3	K562	blood:
4	chr4:79700579..79703463-chr4:79781034..79782674,2	MCF-7	breast:
5	chr4:79548752..79551333-chr4:79698595..79700948,2	K562	blood:
6	chr4:79547801..79550163-chr4:79699958..79704022,3	K562	blood:
7	chr4:79563120..79566472-chr4:79698388..79700680,4	K562	blood:
8	chr4:79571366..79573433-chr4:79699664..79702069,2	K562	blood:
9	chr4:79583221..79584780-chr4:79699632..79701353,2	MCF-7	breast:
10	chr4:79566015..79567656-chr4:79699216..79701058,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260278	TF binding region
ENSG00000251442	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10034295	0.87[LWK][hapmap]
rs10049916	1.00[AMR][1000 genomes]
rs10212806	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10518204	1.00[GIH][hapmap]
rs17003449	1.00[GIH][hapmap]
rs17003461	1.00[GIH][hapmap]
rs17003471	1.00[AMR][1000 genomes]
rs17003474	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17003475	0.91[AMR][1000 genomes]
rs28501992	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs28601752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28635617	0.94[AFR][1000 genomes]
rs28669324	1.00[AMR][1000 genomes]
rs28673838	1.00[AMR][1000 genomes]
rs7658187	0.94[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7661139	1.00[GIH][hapmap]
rs7690754	1.00[MEX][hapmap]
rs9994118	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803379	chr4:79661618-79704210	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1792021	chr4:79661618-79784245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	esv1792429	chr4:79697116-79704210	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1798320	chr4:79697116-79704210	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv1801852	chr4:79697116-79704210	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv1802642	chr4:79697116-79704210	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1802703	chr4:79697116-79704210	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1833723	chr4:79697116-79704210	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv1833992	chr4:79697116-79704210	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv1835474	chr4:79697116-79704210	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv1837381	chr4:79697116-79704210	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv1845915	chr4:79697116-79704210	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79696200-79700800	Active TSS	Rectal Smooth Muscle	rectum
2	chr4:79696400-79700800	Active TSS	Fetal Intestine Small	intestine
3	chr4:79696600-79700600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr4:79696600-79700600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr4:79696600-79701000	Active TSS	Fetal Intestine Large	intestine
6	chr4:79696600-79701000	Active TSS	NHLF	lung
7	chr4:79697600-79700800	Active TSS	Right Atrium	heart
8	chr4:79698000-79700600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr4:79698200-79700800	Flanking Active TSS	Dnd41	blood
10	chr4:79698200-79701200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:79698600-79700600	Active TSS	Brain Anterior Caudate	brain
12	chr4:79698600-79700800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr4:79698600-79701200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr4:79698600-79702200	Weak transcription	Gastric	stomach
15	chr4:79698600-79702200	Weak transcription	Spleen	Spleen
16	chr4:79698600-79703200	Weak transcription	Ovary	ovary
17	chr4:79698600-79708600	Weak transcription	Pancreas	Pancrea
18	chr4:79698800-79703200	Weak transcription	Stomach Mucosa	stomach
19	chr4:79698800-79705200	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:79699000-79701000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr4:79699000-79701200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr4:79699000-79701600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:79699000-79702000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:79699000-79702000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:79699000-79703000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:79699000-79717200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:79699200-79700600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr4:79699200-79700800	Enhancers	Osteobl	bone
29	chr4:79699200-79701200	Enhancers	HepG2	liver
30	chr4:79699200-79702000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:79699200-79704200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr4:79699200-79704800	Weak transcription	Psoas Muscle	Psoas
33	chr4:79699200-79709000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:79699200-79709200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:79699400-79700600	Enhancers	HSMM	muscle
36	chr4:79699400-79701200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr4:79699400-79701800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:79699400-79704200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr4:79699400-79722600	Weak transcription	Fetal Thymus	thymus
40	chr4:79699600-79700600	Enhancers	HMEC	breast
41	chr4:79699600-79700800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr4:79699600-79700800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:79699600-79701400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:79699600-79701600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr4:79699600-79705000	Weak transcription	NH-A	brain
46	chr4:79699800-79700800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr4:79699800-79701000	Weak transcription	Fetal Brain Female	brain
48	chr4:79699800-79701000	Flanking Active TSS	GM12878-XiMat	blood
49	chr4:79699800-79701000	Flanking Active TSS	NHDF-Ad	bronchial
50	chr4:79699800-79701400	Enhancers	Thymus	Thymus

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