Variant report

Variant	rs530104402
Chromosome Location	chr12:68383302-68383303
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	ATF2	chr12:68382271-68383374	GM12878	blood:	n/a	n/a
2	IKZF1	chr12:68382383-68383541	GM12878	blood:	n/a	n/a
3	EP300	chr12:68382295-68383309	GM12878	blood:	n/a	chr12:68382841-68382855 chr12:68382747-68382757
4	NFIC	chr12:68382308-68383444	GM12878	blood:	n/a	n/a
5	TBL1XR1	chr12:68382347-68383373	GM12878	blood:	n/a	n/a
6	RUNX3	chr12:68382941-68383306	GM12878	blood:	n/a	n/a
7	FOXM1	chr12:68382393-68383461	GM12878	blood:	n/a	n/a
8	BHLHE40	chr12:68382309-68383539	GM12878	blood:	n/a	n/a
9	NFIC	chr12:68382425-68383436	GM12878	blood:	n/a	n/a
10	MTA3	chr12:68382398-68383381	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:68381825-68383956	Raji	blood:	n/a	n/a
12	EP300	chr12:68382387-68383345	GM12878	blood:	n/a	chr12:68382841-68382855 chr12:68382747-68382757
13	TCF3	chr12:68382911-68383345	GM12878	blood:	n/a	chr12:68383132-68383148 chr12:68383135-68383144 chr12:68383132-68383147
14	EBF1	chr12:68382379-68383783	GM12878	blood:	n/a	chr12:68383576-68383587
15	STAT5A	chr12:68382600-68383402	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYRK2-4	chr12:68383236-68383359	ENSG00000255733
2	lnc-DYRK2-4	chr12:68383225-68383359	ENSG00000255733
3	lnc-DYRK2-4	chr12:68383225-68383359	NR_104124
4	lnc-DYRK2-4	chr12:68383162-68383359	NONHSAT029276

Variant related genes	Relation type
IFNG-AS1	TF binding region
IFNG	LncRNA region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv975510	chr12:68382193-68385232	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv975509	chr12:68382193-68405026	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68381400-68383800	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:68382200-68383400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:68382200-68383400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:68382200-68384400	Flanking Active TSS	GM12878-XiMat	blood
5	chr12:68382400-68383400	Enhancers	Fetal Thymus	thymus
6	chr12:68382400-68383600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr12:68382400-68383800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:68382400-68383800	Enhancers	Thymus	Thymus
9	chr12:68382600-68383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:68382600-68383800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:68382800-68384200	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr12:68382800-68384400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr12:68382800-68384400	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr12:68383000-68383400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:68383000-68383600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:68383000-68383800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr12:68383000-68384000	Active TSS	Duodenum Mucosa	Duodenum
18	chr12:68383000-68384200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:68383000-68385400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr12:68383200-68383800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr12:68383200-68383800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:68383200-68383800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr12:68383200-68383800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:68383200-68384000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:68383200-68384000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr12:68383200-68384000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links