Variant report

Variant	rs546551969
Chromosome Location	chr12:50100150-50100151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr12:50100132-50100580	K562	blood:	n/a	n/a
2	RUNX3	chr12:50099117-50100376	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:50099264-50101397	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr12:50096226-50101443	GM12878	blood:	n/a	n/a
5	NFIC	chr12:50098539-50100268	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:50098513-50101410	GM12892	blood:	n/a	n/a
7	POLR2A	chr12:50099022-50101605	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr12:50098607-50101521	GM18505	blood:	n/a	n/a
9	YY1	chr12:50100028-50100532	SK-N-SH_RA	brain:	n/a	chr12:50100388-50100398
10	ZMIZ1	chr12:50100137-50100460	K562	blood:	n/a	n/a
11	RAD21	chr12:50099732-50101933	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr12:50098555-50100491	GM12891	blood:	n/a	n/a
13	MTA3	chr12:50098526-50100665	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:50099087-50101652	IMR90	lung:	n/a	n/a
15	STAT5A	chr12:50098515-50100747	GM12878	blood:	n/a	chr12:50100554-50100566
16	POLR2A	chr12:50100021-50100322	GM12891	blood:	n/a	n/a
17	RUNX3	chr12:50099028-50100537	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:50100026-50101500	GM12892	blood:	n/a	n/a
19	NFATC1	chr12:50098891-50100310	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:50100029-50101550	HUVEC	blood vessel:	n/a	n/a
21	PML	chr12:50098485-50100276	GM12878	blood:	n/a	n/a
22	RELA	chr12:50098651-50100584	GM19099	blood:	n/a	n/a
23	RELA	chr12:50098640-50100637	GM18951	blood:	n/a	n/a
24	POLR2A	chr12:50098510-50100654	GM12892	blood:	n/a	n/a
25	RELA	chr12:50098699-50100280	GM15510	blood:	n/a	n/a
26	SIN3A	chr12:50099979-50101643	H1-hESC	embryonic stem cell:	n/a	chr12:50100658-50100671 chr12:50101154-50101165
27	RAD21	chr12:50100069-50100478	IMR90	lung:	n/a	n/a
28	MAZ	chr12:50100101-50100547	GM12878	blood:	n/a	n/a
29	MXI1	chr12:50098615-50100343	GM12878	blood:	n/a	n/a
30	CHD1	chr12:50099004-50100438	GM12878	blood:	n/a	chr12:50100137-50100147
31	TBL1XR1	chr12:50100078-50100512	GM12878	blood:	n/a	n/a
32	FOXM1	chr12:50099097-50100208	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:50098795-50101520	GM19099	blood:	n/a	n/a
34	EBF1	chr12:50100093-50100360	GM12878	blood:	n/a	n/a
35	CHD2	chr12:50099320-50100509	GM12878	blood:	n/a	chr12:50100137-50100147
36	BCLAF1	chr12:50098928-50100292	GM12878	blood:	n/a	chr12:50099841-50099850
37	CTCF	chr12:50100120-50100270	AG10803	skin:	n/a	n/a
38	POLR2A	chr12:50098607-50100229	GM12891	blood:	n/a	n/a
39	MXI1	chr12:50099184-50101785	SK-N-SH	brain:	n/a	n/a
40	WRNIP1	chr12:50098699-50100314	GM12878	blood:	n/a	n/a
41	BCLAF1	chr12:50099137-50100731	GM12878	blood:	n/a	chr12:50099841-50099850
42	POLR2A	chr12:50098524-50100722	GM12891	blood:	n/a	n/a
43	POLR2A	chr12:50100135-50101694	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr12:50098264-50101331	GM12878	blood:	n/a	n/a
45	MTA3	chr12:50098448-50100715	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:50099052-50101471	GM12878	blood:	n/a	n/a
47	REST	chr12:50100103-50101904	H1-neurons	neurons:	n/a	chr12:50100658-50100671 chr12:50101040-50101053 chr12:50100545-50100563
48	UBTF	chr12:50100100-50101585	K562	blood:	n/a	n/a
49	MAZ	chr12:50099040-50101801	IMR90	lung:	n/a	chr12:50099481-50099491
50	POLR2A	chr12:50098518-50101311	GM12892	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50097894..50103527-chr12:50133840..50136991,8	K562	blood:
2	chr12:50097260..50102816-chr12:50134110..50137683,7	MCF-7	breast:
3	chr12:50035942..50038224-chr12:50100136..50103040,3	MCF-7	breast:
4	chr12:50096479..50103459-chr12:50133671..50138995,13	K562	blood:
5	chr12:50080839..50082348-chr12:50098769..50100766,2	K562	blood:
6	chr12:50034899..50039875-chr12:50099580..50104040,10	MCF-7	breast:
7	chr12:50030096..50031620-chr12:50098053..50100188,2	MCF-7	breast:
8	chr12:50099890..50103139-chr12:50133844..50137712,5	MCF-7	breast:
9	chr12:50015541..50018481-chr12:50099736..50102606,3	MCF-7	breast:
10	chr12:50030686..50032288-chr12:50100112..50102042,2	MCF-7	breast:
11	chr12:50015702..50019275-chr12:50098468..50101444,3	MCF-7	breast:
12	chr12:50099618..50102364-chr12:50142236..50145462,3	K562	blood:
13	chr12:50035440..50045362-chr12:50096806..50104789,13	K562	blood:
14	chr12:50033388..50039946-chr12:50098324..50104633,12	K562	blood:
15	chr12:50092701..50095008-chr12:50097299..50100800,3	K562	blood:

No data

Variant related genes	Relation type
TMBIM6	TF binding region
ENSG00000257570	TF binding region
ENSG00000110844	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	esv3356835	chr12:50100110-50102658	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50093200-50100200	Weak transcription	Esophagus	oesophagus
2	chr12:50097600-50100400	Weak transcription	Small Intestine	intestine
3	chr12:50098600-50100200	Enhancers	Spleen	Spleen
4	chr12:50098600-50100400	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr12:50098600-50100400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr12:50098800-50100200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:50098800-50100200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:50098800-50100200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr12:50098800-50100200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:50098800-50100400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr12:50098800-50100400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:50098800-50100400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:50098800-50100600	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr12:50098800-50101600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr12:50099000-50100200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:50099000-50100200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:50099000-50100200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:50099000-50100400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:50099000-50100600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr12:50099000-50101400	Active TSS	Left Ventricle	heart
21	chr12:50099000-50101600	Active TSS	Fetal Kidney	kidney
22	chr12:50099200-50100200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:50099200-50100200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr12:50099200-50100200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr12:50099200-50100400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr12:50099200-50100400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr12:50099200-50100400	Flanking Active TSS	HMEC	breast
28	chr12:50099200-50100600	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr12:50099200-50100600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:50099200-50100600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:50099200-50100600	Flanking Active TSS	Dnd41	blood
32	chr12:50099200-50100800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr12:50099200-50101000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:50099200-50101400	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr12:50099400-50100200	Weak transcription	Gastric	stomach
36	chr12:50099400-50100200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
37	chr12:50099400-50100400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:50099400-50100600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr12:50099400-50100600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr12:50099400-50100600	Flanking Active TSS	Fetal Thymus	thymus
41	chr12:50099400-50101200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:50099400-50101200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
43	chr12:50099400-50101600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:50099600-50100200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:50099600-50100200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
46	chr12:50099600-50100200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
47	chr12:50099600-50100200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
48	chr12:50099600-50100200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:50099600-50100200	Enhancers	HepG2	liver
50	chr12:50099600-50100400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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