Variant report

Variant	rs554427596
Chromosome Location	chr4:698874-698875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:698750-699349	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr4:698708-699492	K562	blood:	n/a	n/a
3	MAZ	chr4:698853-700085	IMR90	lung:	n/a	n/a
4	MTA3	chr4:698814-699439	GM12878	blood:	n/a	n/a
5	MXI1	chr4:698850-700086	IMR90	lung:	n/a	n/a
6	POLR2A	chr4:698649-699309	GM12892	blood:	n/a	n/a
7	ZBTB7A	chr4:698405-700314	K562	blood:	n/a	n/a
8	POLR2A	chr4:698616-700186	PFSK-1	brain:	n/a	n/a
9	CHD1	chr4:698766-700226	IMR90	lung:	n/a	n/a
10	POLR2A	chr4:698698-699041	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr4:698700-699052	H1-hESC	embryonic stem cell:	n/a	n/a
12	NR2F2	chr4:698780-699878	MCF-7	breast:	n/a	n/a
13	NR2F2	chr4:698619-699508	K562	blood:	n/a	n/a
14	POLR2A	chr4:698678-699052	GM12891	blood:	n/a	n/a
15	ZBTB7A	chr4:698698-698916	K562	blood:	n/a	n/a
16	NR2F2	chr4:698646-699451	K562	blood:	n/a	n/a
17	STAT5A	chr4:698739-699299	GM12878	blood:	n/a	n/a
18	NR2F2	chr4:698873-699515	MCF-7	breast:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:691381..694386-chr4:695506..698892,4	K562	blood:
2	chr4:694824..697589-chr4:697861..699485,2	K562	blood:
3	chr4:697549..703820-chr4:770860..775722,9	K562	blood:
4	chr4:673479..675144-chr4:696764..699498,2	K562	blood:
5	chr17:73773135..73777353-chr4:698527..702357,3	MCF-7	breast:
6	chr4:672883..676399-chr4:697081..701106,5	MCF-7	breast:
7	chr4:672428..678608-chr4:693605..699154,7	MCF-7	breast:
8	chr4:666292..671732-chr4:694079..701503,8	MCF-7	breast:
9	chr4:681693..683683-chr4:698278..699853,2	K562	blood:
10	chr4:666295..671517-chr4:698228..703248,8	MCF-7	breast:
11	chr4:680242..683670-chr4:697022..701034,8	MCF-7	breast:
12	chr4:696628..698929-chr4:713327..715075,2	MCF-7	breast:
13	chr4:681383..683193-chr4:698223..700658,3	K562	blood:
14	chr4:666011..668174-chr4:698640..701171,3	K562	blood:

No data

Variant related genes	Relation type
PCGF3	TF binding region
ENSG00000169020	Chromatin interaction
ENSG00000169026	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000215375	Chromatin interaction
ENSG00000249592	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv593209	chr4:686563-747810	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv870115	chr4:692811-733794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv10414	chr4:696527-701955	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	esv3323850	chr4:698477-701325	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	nsv822426	chr4:698559-700452	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	esv3378645	chr4:698602-700850	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:683600-699000	Weak transcription	Right Atrium	heart
2	chr4:684200-699000	Weak transcription	Right Ventricle	heart
3	chr4:694000-699000	Weak transcription	GM12878-XiMat	blood
4	chr4:694200-699000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:694800-699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:695000-699000	Weak transcription	Brain Angular Gyrus	brain
7	chr4:696000-699000	Enhancers	Stomach Mucosa	stomach
8	chr4:697000-699000	Weak transcription	Fetal Intestine Large	intestine
9	chr4:697000-699000	Enhancers	K562	blood
10	chr4:697200-699000	Enhancers	Spleen	Spleen
11	chr4:697400-699000	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:697600-699000	Enhancers	Placenta	Placenta
13	chr4:697800-699000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:697800-699000	Enhancers	Gastric	stomach
15	chr4:698000-699000	Enhancers	Esophagus	oesophagus
16	chr4:698200-699000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr4:698200-699000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:698200-699000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr4:698400-699000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:698400-699000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:698400-699000	Active TSS	Brain Germinal Matrix	brain
22	chr4:698400-699000	Active TSS	Colonic Mucosa	Colon
23	chr4:698400-699000	Enhancers	Lung	lung
24	chr4:698400-699000	Enhancers	Pancreas	Pancrea
25	chr4:698600-699000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:698600-699000	Enhancers	Primary B cells from peripheral blood	blood
27	chr4:698600-699000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:698600-699000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:698600-699200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr4:698600-699600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:698600-700200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr4:698600-700600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:698800-699000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr4:698800-699000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:698800-699000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr4:698800-699000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr4:698800-699000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr4:698800-699000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:698800-699000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:698800-699000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:698800-699000	Enhancers	Liver	Liver
42	chr4:698800-699000	Enhancers	Brain Anterior Caudate	brain
43	chr4:698800-699000	Enhancers	Colon Smooth Muscle	Colon
44	chr4:698800-699000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr4:698800-699000	Bivalent Enhancer	Fetal Brain Male	brain
46	chr4:698800-699000	Enhancers	Fetal Muscle Leg	muscle
47	chr4:698800-699000	Enhancers	Fetal Thymus	thymus
48	chr4:698800-699000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr4:698800-699000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr4:698800-699000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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