Variant report

Variant	rs537079715
Chromosome Location	chr1:45501545-45501546
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:45501318-45501749	K562	blood:	n/a	n/a
2	STAT5A	chr1:45501277-45501674	K562	blood:	n/a	n/a
3	GATA2	chr1:45501298-45501769	K562	blood:	n/a	n/a
4	TBL1XR1	chr1:45501391-45501660	K562	blood:	n/a	n/a
5	ZMIZ1	chr1:45501363-45501681	K562	blood:	n/a	n/a
6	GATA1	chr1:45501338-45501747	PBDEFetal	blood:	n/a	n/a
7	PML	chr1:45501202-45501787	K562	blood:	n/a	n/a
8	POLR2A	chr1:45501308-45501698	K562	blood:	n/a	n/a
9	GATA1	chr1:45501122-45501920	PBDE	blood:	n/a	n/a
10	GATA2	chr1:45501281-45501739	K562	blood:	n/a	n/a
11	CEBPB	chr1:45501411-45501843	K562	blood:	n/a	n/a
12	EP300	chr1:45501385-45501648	K562	blood:	n/a	n/a
13	MAX	chr1:45501287-45501551	K562	blood:	n/a	n/a
14	RCOR1	chr1:45501301-45501752	K562	blood:	n/a	n/a
15	UBTF	chr1:45501307-45501722	K562	blood:	n/a	n/a
16	CEBPD	chr1:45501247-45501807	K562	blood:	n/a	n/a
17	EP300	chr1:45501280-45501865	K562	blood:	n/a	n/a
18	MAX	chr1:45501206-45501641	K562	blood:	n/a	n/a
19	GATA2	chr1:45501300-45501728	K562	blood:	n/a	n/a
20	RCOR1	chr1:45501222-45501695	K562	blood:	n/a	n/a
21	CEBPB	chr1:45501321-45501699	K562	blood:	n/a	n/a
22	ARID3A	chr1:45501365-45501700	K562	blood:	n/a	n/a
23	NFYA	chr1:45501329-45501639	K562	blood:	n/a	n/a
24	TEAD4	chr1:45501223-45501881	K562	blood:	n/a	n/a
25	MYC	chr1:45501315-45501678	K562	blood:	n/a	n/a
26	MAFK	chr1:45501324-45501753	K562	blood:	n/a	n/a
27	GABPA	chr1:45501360-45501709	K562	blood:	n/a	n/a
28	POLR2A	chr1:45501283-45501625	K562	blood:	n/a	n/a
29	GATA1	chr1:45500696-45501994	K562	blood:	n/a	n/a
30	BHLHE40	chr1:45501370-45501684	K562	blood:	n/a	n/a
31	HDAC2	chr1:45501290-45501725	K562	blood:	n/a	n/a
32	HMGN3	chr1:45501327-45501690	K562	blood:	n/a	n/a
33	REST	chr1:45501306-45501578	K562	blood:	n/a	n/a
34	STAT5A	chr1:45501246-45501770	K562	blood:	n/a	chr1:45501273-45501284
35	JUND	chr1:45501270-45501689	K562	blood:	n/a	chr1:45501660-45501671
36	TBL1XR1	chr1:45501374-45501712	K562	blood:	n/a	n/a
37	NR2F2	chr1:45501284-45501984	K562	blood:	n/a	n/a
38	TAL1	chr1:45501283-45501855	K562	blood:	n/a	chr1:45501536-45501545
39	MAZ	chr1:45501385-45501713	K562	blood:	n/a	n/a
40	POLR2A	chr1:45501333-45501651	K562	blood:	n/a	n/a
41	TEAD4	chr1:45501123-45501991	K562	blood:	n/a	n/a
42	TRIM28	chr1:45501284-45501723	K562	blood:	n/a	n/a
43	CEBPD	chr1:45501207-45501766	K562	blood:	n/a	n/a
44	UBTF	chr1:45501308-45501571	K562	blood:	n/a	n/a
45	CCNT2	chr1:45501280-45501728	K562	blood:	n/a	n/a
46	MYC	chr1:45501279-45501658	K562	blood:	n/a	n/a
47	POLR2A	chr1:45501425-45501626	K562	blood:	n/a	n/a
48	NR2F2	chr1:45501166-45501963	K562	blood:	n/a	n/a
49	CUX1	chr1:45501374-45501775	K562	blood:	n/a	n/a
50	GATA1	chr1:45501368-45501701	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45500321..45502356-chr1:45502649..45504845,2	K562	blood:
2	chr1:45478386..45480410-chr1:45500265..45501883,2	K562	blood:
3	chr1:45497167..45499235-chr1:45500803..45502705,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264650	TF binding region
ENSG00000126088	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45480800-45510400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:45481200-45504600	Weak transcription	Colonic Mucosa	Colon
3	chr1:45481200-45510200	Weak transcription	Lung	lung
4	chr1:45481200-45525000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:45481200-45527400	Weak transcription	Left Ventricle	heart
6	chr1:45482000-45523800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:45491800-45516400	Weak transcription	Spleen	Spleen
8	chr1:45492000-45507600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:45494600-45504200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:45495000-45506800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:45497400-45525400	Weak transcription	Gastric	stomach
12	chr1:45497800-45501800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:45498000-45525600	Weak transcription	Pancreas	Pancrea
14	chr1:45498200-45506800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:45498600-45502000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:45499200-45502000	Strong transcription	Brain Anterior Caudate	brain
17	chr1:45499200-45502000	Strong transcription	Brain Germinal Matrix	brain
18	chr1:45499200-45502000	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr1:45499200-45502400	Strong transcription	Stomach Smooth Muscle	stomach
20	chr1:45499200-45516200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:45499400-45502000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:45499400-45502400	Weak transcription	Hela-S3	cervix
23	chr1:45499600-45503200	Weak transcription	GM12878-XiMat	blood
24	chr1:45499800-45501800	Strong transcription	Brain Hippocampus Middle	brain
25	chr1:45499800-45501800	Strong transcription	Brain Substantia Nigra	brain
26	chr1:45499800-45502000	Strong transcription	Brain Angular Gyrus	brain
27	chr1:45499800-45502000	Strong transcription	Brain Cingulate Gyrus	brain
28	chr1:45499800-45502000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:45499800-45502000	Strong transcription	Fetal Brain Female	brain
30	chr1:45499800-45502000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr1:45499800-45502600	Strong transcription	Fetal Stomach	stomach
32	chr1:45500000-45502000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:45500000-45502000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr1:45500000-45504800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr1:45500200-45501600	Weak transcription	Fetal Intestine Large	intestine
36	chr1:45500400-45505200	Weak transcription	Right Ventricle	heart
37	chr1:45500400-45516600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:45500600-45502000	Strong transcription	HepG2	liver
39	chr1:45500800-45502000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:45501000-45501800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:45501000-45501800	Enhancers	Fetal Heart	heart
42	chr1:45501000-45502400	Strong transcription	Aorta	Aorta
43	chr1:45501200-45501800	Strong transcription	Fetal Brain Male	brain
44	chr1:45501200-45501800	Flanking Active TSS	K562	blood
45	chr1:45501200-45502000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr1:45501200-45502800	Genic enhancers	Fetal Intestine Small	intestine
47	chr1:45501400-45502000	Strong transcription	Ovary	ovary
48	chr1:45501400-45502000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:45501400-45516600	Weak transcription	Small Intestine	intestine

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