Variant report

Variant	rs528901647
Chromosome Location	chr4:696616-696617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr4:696410-696842	K562	blood:	n/a	n/a
2	E2F6	chr4:696458-696643	K562	blood:	n/a	n/a
3	CEBPB	chr4:696515-696687	K562	blood:	n/a	n/a
4	UBTF	chr4:696410-696691	K562	blood:	n/a	n/a
5	MAX	chr4:696357-696749	K562	blood:	n/a	n/a
6	MAX	chr4:696416-696691	K562	blood:	n/a	n/a
7	EP300	chr4:696413-696820	K562	blood:	n/a	n/a
8	MAZ	chr4:696266-696798	K562	blood:	n/a	n/a
9	POLR2A	chr4:696325-696808	K562	blood:	n/a	n/a
10	GTF2F1	chr4:696326-696658	K562	blood:	n/a	n/a
11	BACH1	chr4:696568-696761	K562	blood:	n/a	n/a
12	MYC	chr4:696457-696819	K562	blood:	n/a	n/a
13	CCNT2	chr4:696425-696732	K562	blood:	n/a	n/a
14	RCOR1	chr4:696357-697040	K562	blood:	n/a	n/a
15	MXI1	chr4:696484-696669	K562	blood:	n/a	n/a
16	E2F6	chr4:696364-696956	K562	blood:	n/a	n/a
17	MAX	chr4:696375-696638	K562	blood:	n/a	n/a
18	RCOR1	chr4:696337-696915	K562	blood:	n/a	n/a
19	YY1	chr4:696582-696741	K562	blood:	n/a	n/a
20	BHLHE40	chr4:696406-696678	K562	blood:	n/a	n/a
21	TBP	chr4:696281-696795	K562	blood:	n/a	n/a
22	HEY1	chr4:696607-696869	K562	blood:	n/a	n/a
23	IRF1	chr4:696393-696756	K562	blood:	n/a	n/a
24	ZBTB7A	chr4:696417-696672	K562	blood:	n/a	n/a
25	CHD2	chr4:696445-696782	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:691381..694386-chr4:695506..698892,4	K562	blood:
2	chr4:683107..685849-chr4:694318..697240,2	K562	blood:
3	chr4:672428..678608-chr4:693605..699154,7	MCF-7	breast:
4	chr4:666292..671732-chr4:694079..701503,8	MCF-7	breast:
5	chr4:693450..697481-chr4:699717..703370,4	K562	blood:
6	chr4:694824..697589-chr4:697861..699485,2	K562	blood:

No data

Variant related genes	Relation type
PCGF3	TF binding region
ENSG00000215375	Chromatin interaction
ENSG00000169026	Chromatin interaction
ENSG00000169020	Chromatin interaction
ENSG00000185619	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:683600-697200	Weak transcription	Gastric	stomach
2	chr4:683600-699000	Weak transcription	Right Atrium	heart
3	chr4:684200-699000	Weak transcription	Right Ventricle	heart
4	chr4:687400-697800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:693400-698800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:693600-698000	Weak transcription	Esophagus	oesophagus
7	chr4:693600-698800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr4:693600-698800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:693600-698800	Weak transcription	Hela-S3	cervix
10	chr4:693800-698600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:693800-698800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:693800-698800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:693800-698800	Weak transcription	Liver	Liver
14	chr4:694000-698200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:694000-698800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:694000-698800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:694000-698800	Weak transcription	Primary B cells from cord blood	blood
18	chr4:694000-698800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:694000-698800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:694000-698800	Weak transcription	Fetal Thymus	thymus
21	chr4:694000-698800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:694000-699000	Weak transcription	GM12878-XiMat	blood
23	chr4:694200-698400	Weak transcription	Colonic Mucosa	Colon
24	chr4:694200-698800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:694200-699000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:694400-698600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr4:694400-698600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:694600-698600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr4:694600-698800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr4:694800-697200	Weak transcription	Spleen	Spleen
31	chr4:694800-698800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:694800-699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:695000-697600	Weak transcription	Placenta	Placenta
34	chr4:695000-698600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:695000-699000	Weak transcription	Brain Angular Gyrus	brain
36	chr4:696000-699000	Enhancers	Stomach Mucosa	stomach
37	chr4:696200-697000	Enhancers	Fetal Intestine Small	intestine
38	chr4:696200-697000	Flanking Active TSS	K562	blood
39	chr4:696400-697000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:696400-697000	Enhancers	Fetal Intestine Large	intestine
41	chr4:696600-697000	Enhancers	NHEK	skin

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