Variant report

Variant	rs73249981
Chromosome Location	chr12:9917829-9917830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFATC1	chr12:9917277-9918204	GM12878	blood:	n/a	n/a
2	STAT1	chr12:9917388-9918006	GM12878	blood:	n/a	chr12:9917753-9917761
3	BCL3	chr12:9917429-9918045	GM12878	blood:	n/a	chr12:9917539-9917546
4	ZMIZ1	chr12:9917302-9918048	K562	blood:	n/a	n/a
5	EP300	chr12:9917195-9918105	K562	blood:	n/a	chr12:9917638-9917652 chr12:9917636-9917650
6	MEF2C	chr12:9917396-9917939	GM12878	blood:	n/a	chr12:9917771-9917786 chr12:9917769-9917784 chr12:9917769-9917784 chr12:9917770-9917785 chr12:9917770-9917784 chr12:9917769-9917785 chr12:9917768-9917789 chr12:9917772-9917783
7	TRIM28	chr12:9917265-9917857	K562	blood:	n/a	n/a
8	TCF3	chr12:9917307-9918070	GM12878	blood:	n/a	n/a
9	BCL11A	chr12:9917313-9917976	GM12878	blood:	n/a	chr12:9917539-9917546
10	POU2F2	chr12:9917236-9918025	GM12878	blood:	n/a	chr12:9917744-9917755 chr12:9917746-9917756 chr12:9917746-9917756 chr12:9917746-9917755 chr12:9917739-9917761 chr12:9917747-9917754 chr12:9917743-9917758 chr12:9917743-9917757
11	RCOR1	chr12:9916803-9918075	GM12878	blood:	n/a	n/a
12	NR2F2	chr12:9917262-9917857	K562	blood:	n/a	n/a
13	RELA	chr12:9917237-9918367	GM18505	blood:	n/a	chr12:9917852-9917861 chr12:9917852-9917861
14	GATA1	chr12:9916592-9918259	PBDE	blood:	n/a	chr12:9918194-9918207 chr12:9917534-9917550 chr12:9917539-9917556
15	BCLAF1	chr12:9917299-9918112	GM12878	blood:	n/a	chr12:9917539-9917546
16	MAX	chr12:9916412-9918022	NB4	blood:	n/a	chr12:9916589-9916599
17	IRF1	chr12:9917030-9917832	K562	blood:	n/a	n/a
18	RUNX3	chr12:9917290-9918040	GM12878	blood:	n/a	n/a
19	CREB1	chr12:9917139-9918122	GM12878	blood:	n/a	n/a
20	STAT3	chr12:9916518-9918102	GM12878	blood:	n/a	chr12:9917753-9917761 chr12:9917226-9917237
21	POLR2A	chr12:9917081-9917834	K562	blood:	n/a	n/a
22	JUND	chr12:9917227-9918195	K562	blood:	n/a	n/a
23	RELA	chr12:9917319-9918097	GM12892	blood:	n/a	chr12:9917852-9917861 chr12:9917852-9917861
24	RCOR1	chr12:9917360-9918042	K562	blood:	n/a	n/a
25	ZNF384	chr12:9917371-9918235	GM12878	blood:	n/a	n/a
26	NFIC	chr12:9917089-9918246	GM12878	blood:	n/a	n/a
27	HCFC1	chr12:9917372-9918045	K562	blood:	n/a	n/a
28	MAZ	chr12:9917301-9917905	K562	blood:	n/a	n/a
29	POLR2A	chr12:9917195-9918031	NB4	blood:	n/a	n/a
30	TEAD4	chr12:9917276-9917976	K562	blood:	n/a	n/a
31	RCOR1	chr12:9917299-9918118	K562	blood:	n/a	n/a
32	CUX1	chr12:9916645-9918269	GM12878	blood:	n/a	chr12:9916944-9916953
33	CREB1	chr12:9917142-9917866	K562	blood:	n/a	n/a
34	BHLHE40	chr12:9917216-9918052	GM12878	blood:	n/a	n/a
35	EP300	chr12:9917359-9918051	GM12878	blood:	n/a	chr12:9917638-9917652 chr12:9917636-9917650
36	POLR2A	chr12:9916528-9918291	PBDE	blood:	n/a	n/a
37	POLR2A	chr12:9916819-9918098	GM12878	blood:	n/a	n/a
38	ZNF384	chr12:9917339-9918110	K562	blood:	n/a	n/a
39	TEAD4	chr12:9917289-9917888	K562	blood:	n/a	n/a
40	EP300	chr12:9917375-9917957	K562	blood:	n/a	chr12:9917638-9917652 chr12:9917636-9917650
41	JUN	chr12:9917226-9918076	K562	blood:	n/a	n/a
42	ATF2	chr12:9917173-9918164	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:9916802-9918147	GM12878	blood:	n/a	n/a
44	STAT5A	chr12:9917205-9918128	GM12878	blood:	n/a	chr12:9917753-9917761 chr12:9917226-9917237
45	NFIC	chr12:9917025-9918134	GM12878	blood:	n/a	n/a
46	GTF2B	chr12:9917365-9918055	K562	blood:	n/a	n/a
47	TAL1	chr12:9917293-9918219	K562	blood:	n/a	chr12:9917538-9917556
48	TBL1XR1	chr12:9916464-9918325	GM12878	blood:	n/a	n/a
49	ATF2	chr12:9917106-9918080	GM12878	blood:	n/a	n/a
50	CUX1	chr12:9917366-9918418	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9916372..9918378-chr12:9944960..9947867,2	K562	blood:
2	chr12:9916166..9917917-chr12:9948178..9949717,2	K562	blood:

Variant related genes	Relation type
CD69	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57735381	1.00[AMR][1000 genomes]
rs73236704	1.00[AMR][1000 genomes]
rs73249972	1.00[AMR][1000 genomes]

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	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv975645	chr12:9917034-9924808	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9914200-9918600	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:9914400-9918400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:9914400-9918600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:9914600-9918400	Enhancers	Fetal Thymus	thymus
5	chr12:9914600-9918600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:9914600-9920200	Enhancers	Primary T cells from cord blood	blood
7	chr12:9914800-9918600	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:9916000-9918400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:9916200-9918400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:9916600-9918000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:9916600-9918400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:9917000-9918200	Enhancers	HUVEC	blood vessel
13	chr12:9917400-9918000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:9917400-9918000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr12:9917400-9918200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:9917400-9918200	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr12:9917400-9918200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:9917400-9918600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr12:9917600-9918000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:9917600-9918000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr12:9917600-9918200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:9917600-9918400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:9917600-9918400	Flanking Active TSS	Dnd41	blood
24	chr12:9917600-9927200	Weak transcription	Esophagus	oesophagus
25	chr12:9917800-9918000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr12:9917800-9918000	Flanking Active TSS	Thymus	Thymus
27	chr12:9917800-9918200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr12:9917800-9918200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:9917800-9918200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr12:9917800-9918200	Flanking Active TSS	K562	blood
31	chr12:9917800-9918400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr12:9917800-9918400	Flanking Active TSS	GM12878-XiMat	blood

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