Variant report

Variant	rs7676020
Chromosome Location	chr4:79700274-79700275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:79695600-79704800	PBDE	blood:	n/a	n/a
2	WRNIP1	chr4:79699975-79700291	GM12878	blood:	n/a	n/a
3	BHLHE40	chr4:79700210-79700890	GM12878	blood:	n/a	n/a
4	IRF1	chr4:79698043-79700891	K562	blood:	n/a	chr4:79699678-79699685 chr4:79698149-79698158 chr4:79699001-79699011 chr4:79698997-79699011 chr4:79699699-79699716
5	POLR2A	chr4:79699817-79701630	GM12878	blood:	n/a	n/a
6	RFX5	chr4:79700218-79700555	K562	blood:	n/a	n/a
7	JUND	chr4:79700226-79700308	K562	blood:	n/a	n/a
8	FOS	chr4:79700125-79700318	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr4:79699498-79704548	K562	blood:	n/a	n/a
10	UBTF	chr4:79699373-79700760	K562	blood:	n/a	n/a
11	CHD1	chr4:79700254-79700835	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:79699774-79700279	K562	blood:	n/a	n/a
13	TEAD4	chr4:79699532-79701679	K562	blood:	n/a	n/a
14	POLR2A	chr4:79699514-79703652	GM12891	blood:	n/a	n/a
15	BCLAF1	chr4:79699900-79700773	K562	blood:	n/a	n/a
16	TBL1XR1	chr4:79698151-79701864	K562	blood:	n/a	n/a
17	IRF1	chr4:79700076-79701596	K562	blood:	n/a	n/a
18	POLR2A	chr4:79700008-79700349	K562	blood:	n/a	n/a
19	MYC	chr4:79700190-79700902	K562	blood:	n/a	chr4:79700715-79700725
20	PML	chr4:79699511-79703925	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

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	chr4:79548752..79551333-chr4:79698595..79700948,2	K562	blood:
5	chr4:79547801..79550163-chr4:79699958..79704022,3	K562	blood:
6	chr4:79563120..79566472-chr4:79698388..79700680,4	K562	blood:
7	chr4:79571366..79573433-chr4:79699664..79702069,2	K562	blood:
8	chr4:79583221..79584780-chr4:79699632..79701353,2	MCF-7	breast:
9	chr4:79566015..79567656-chr4:79699216..79701058,2	MCF-7	breast:

No data

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17003456	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003457	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003467	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003497	1.00[AMR][1000 genomes]
rs6818376	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7654012	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7660496	1.00[AMR][1000 genomes]
rs7682725	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	chr4:79698400-79700400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:79698600-79700400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:79698600-79700600	Active TSS	Brain Anterior Caudate	brain
14	chr4:79698600-79700800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr4:79698600-79701200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr4:79698600-79702200	Weak transcription	Gastric	stomach
17	chr4:79698600-79702200	Weak transcription	Spleen	Spleen
18	chr4:79698600-79703200	Weak transcription	Ovary	ovary
19	chr4:79698600-79708600	Weak transcription	Pancreas	Pancrea
20	chr4:79698800-79700400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:79698800-79700400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr4:79698800-79700400	Enhancers	Fetal Lung	lung
23	chr4:79698800-79703200	Weak transcription	Stomach Mucosa	stomach
24	chr4:79698800-79705200	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:79699000-79700400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr4:79699000-79700400	Active TSS	Duodenum Mucosa	Duodenum
27	chr4:79699000-79701000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr4:79699000-79701200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr4:79699000-79701600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:79699000-79702000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:79699000-79702000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:79699000-79703000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:79699000-79717200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:79699200-79700600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr4:79699200-79700800	Enhancers	Osteobl	bone
36	chr4:79699200-79701200	Enhancers	HepG2	liver
37	chr4:79699200-79702000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:79699200-79704200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr4:79699200-79704800	Weak transcription	Psoas Muscle	Psoas
40	chr4:79699200-79709000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:79699200-79709200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr4:79699400-79700400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr4:79699400-79700400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:79699400-79700400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr4:79699400-79700400	Enhancers	Fetal Kidney	kidney
46	chr4:79699400-79700600	Enhancers	HSMM	muscle
47	chr4:79699400-79701200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr4:79699400-79701800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:79699400-79704200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr4:79699400-79722600	Weak transcription	Fetal Thymus	thymus

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