Variant report

Variant	rs146396188
Chromosome Location	chr12:68383044-68383045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr12:68382922-68383291	GM12878	blood:	n/a	n/a
2	ATF2	chr12:68382271-68383374	GM12878	blood:	n/a	n/a
3	TCF12	chr12:68382987-68383265	GM12878	blood:	n/a	n/a
4	IKZF1	chr12:68382383-68383541	GM12878	blood:	n/a	n/a
5	WRNIP1	chr12:68382992-68383199	GM12878	blood:	n/a	n/a
6	EP300	chr12:68382295-68383309	GM12878	blood:	n/a	chr12:68382841-68382855 chr12:68382747-68382757
7	TCF3	chr12:68383035-68383256	GM12878	blood:	n/a	chr12:68383132-68383148 chr12:68383135-68383144 chr12:68383132-68383147
8	NFIC	chr12:68382308-68383444	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr12:68382347-68383373	GM12878	blood:	n/a	n/a
10	RUNX3	chr12:68382941-68383306	GM12878	blood:	n/a	n/a
11	FOXM1	chr12:68382393-68383461	GM12878	blood:	n/a	n/a
12	TCF12	chr12:68382945-68383283	GM12878	blood:	n/a	n/a
13	BHLHE40	chr12:68382309-68383539	GM12878	blood:	n/a	n/a
14	ZEB1	chr12:68382939-68383276	GM12878	blood:	n/a	n/a
15	NFIC	chr12:68382425-68383436	GM12878	blood:	n/a	n/a
16	MTA3	chr12:68382398-68383381	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:68381825-68383956	Raji	blood:	n/a	n/a
18	CUX1	chr12:68382588-68383056	GM12878	blood:	n/a	n/a
19	EP300	chr12:68382387-68383345	GM12878	blood:	n/a	chr12:68382841-68382855 chr12:68382747-68382757
20	TCF3	chr12:68382911-68383345	GM12878	blood:	n/a	chr12:68383132-68383148 chr12:68383135-68383144 chr12:68383132-68383147
21	EBF1	chr12:68382379-68383783	GM12878	blood:	n/a	chr12:68383576-68383587
22	STAT5A	chr12:68382600-68383402	GM12878	blood:	n/a	n/a
23	ATF2	chr12:68382286-68383281	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:68383010-68383060	Jurkat	blood:	n/a
2	chr12:68383010-68383060	NHDF-neo	bronchial:	n/a
3	chr12:68383010-68383060	AG09319	gingival:	n/a
4	chr12:68383010-68383060	HRE	kidney:	n/a
5	chr12:68383010-68383060	ProgFib	skin:	n/a
6	chr12:68383010-68383060	HMEC	breast:	n/a
7	chr12:68383010-68383060	PFSK-1	brain:	n/a
8	chr12:68383010-68383060	HepG2	liver:	n/a
9	chr12:68383010-68383060	MCF-7	breast:	n/a
10	chr12:68383010-68383060	RPTEC	kidney:	n/a
11	chr12:68383010-68383060	CMK	blood:	n/a
12	chr12:68383010-68383060	SKMC	muscle:	n/a
13	chr12:68383010-68383060	AG04450	lung:	fetal
14	chr12:68383010-68383060	ovcar-3	ovarian:	n/a
15	chr12:68383010-68383060	PrEC	prostate:	n/a
16	chr12:68383010-68383060	GM12878	blood:	n/a
17	chr12:68383010-68383060	NH-A	brain:	n/a
18	chr12:68383010-68383060	LNCaP	prostate:	n/a
19	chr12:68383010-68383060	HRPEpiC	eye:	n/a
20	chr12:68383010-68383060	BJ	skin:	n/a
21	chr12:68383010-68383060	HL-60	blood:	n/a
22	chr12:68383010-68383060	Hepatocyte	liver:	n/a
23	chr12:68383010-68383060	AG10803	skin:	n/a
24	chr12:68383010-68383060	HNPCEpiC	eye:	n/a
25	chr12:68383010-68383060	Hela-S3	cervix:	n/a
26	chr12:68383010-68383060	GM06990	blood:	n/a
27	chr12:68383010-68383060	Caco-2	colon:	n/a
28	chr12:68383010-68383060	HCT-116	colon:	n/a
29	chr12:68383010-68383060	SAEC	small airway:	n/a
30	chr12:68383010-68383060	HCPEpiC	choroid plexus:	n/a
31	chr12:68383010-68383060	HUVEC	blood vessel:	n/a
32	chr12:68383010-68383060	HCM	heart:	n/a
33	chr12:68383010-68383060	HEEpiC	esophagus:	n/a
34	chr12:68383010-68383060	BE2_C	brain:	n/a
35	chr12:68383010-68383060	GM12892	blood:	n/a
36	chr12:68383010-68383060	HAEpiC	amniotic membrane:	n/a
37	chr12:68383010-68383060	AG04449	skin:	fetal
38	chr12:68383010-68383060	U87	brain:	n/a
39	chr12:68383010-68383060	AG09309	skin:	n/a
40	chr12:68383010-68383060	AoSMC	blood vessel:	n/a
41	chr12:68383010-68383060	HIPEpiC	eye:	n/a
42	chr12:68383010-68383060	HRCEpiC	kidney:	n/a
43	chr12:68383010-68383060	H1-hESC	embryonic stem cell:	embryo
44	chr12:68383010-68383060	MCF10A-Er-Src	breast:	n/a
45	chr12:68383010-68383060	NB4	blood:	n/a
46	chr12:68383010-68383060	HEK293	kidney:	embryo
47	chr12:68383010-68383060	A549	lung:	n/a
48	chr12:68383010-68383060	K562	blood:	n/a
49	chr12:68383010-68383060	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:68383010-68383060	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68379962..68383054-chr12:68386184..68387987,3	MCF-7	breast:

No data

Variant related genes	Relation type
IFNG-AS1	TF binding region
IFNG-AS1	CpG island

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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68381400-68383800	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:68381800-68383200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr12:68381800-68383200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:68382000-68383200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:68382200-68383200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:68382200-68383200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:68382200-68383400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:68382200-68383400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:68382200-68384400	Flanking Active TSS	GM12878-XiMat	blood
10	chr12:68382400-68383200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:68382400-68383200	Enhancers	Dnd41	blood
12	chr12:68382400-68383400	Enhancers	Fetal Thymus	thymus
13	chr12:68382400-68383600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:68382400-68383800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:68382400-68383800	Enhancers	Thymus	Thymus
16	chr12:68382600-68383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:68382600-68383800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:68382800-68383200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:68382800-68384200	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr12:68382800-68384400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr12:68382800-68384400	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr12:68383000-68383400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr12:68383000-68383600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:68383000-68383800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr12:68383000-68384000	Active TSS	Duodenum Mucosa	Duodenum
26	chr12:68383000-68384200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:68383000-68385400	Active TSS	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links