Variant report

Variant	rs534326446
Chromosome Location	chr12:117318274-117318275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr12:117316189-117319614	NT2-D1	testis:	n/a	n/a
2	ZNF263	chr12:117317673-117319155	HEK293-T-REx	kidney:	n/a	chr12:117318231-117318240
3	SUZ12	chr12:117317764-117318827	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr12:117317825-117318426	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:117318251-117318301	ProgFib	skin:	n/a
2	chr12:117318251-117318301	HIPEpiC	eye:	n/a
3	chr12:117318251-117318301	GM12878	blood:	n/a
4	chr12:117318251-117318301	GM12892	blood:	n/a
5	chr12:117318251-117318301	HRPEpiC	eye:	n/a
6	chr12:117318251-117318301	SKMC	muscle:	n/a
7	chr12:117318251-117318301	NH-A	brain:	n/a
8	chr12:117318251-117318301	CMK	blood:	n/a
9	chr12:117318251-117318301	HMEC	breast:	n/a
10	chr12:117318251-117318301	AoSMC	blood vessel:	n/a
11	chr12:117318251-117318301	AG09309	skin:	n/a
12	chr12:117318251-117318301	RPTEC	kidney:	n/a
13	chr12:117318251-117318301	ECC-1	luminal epithelium:	n/a
14	chr12:117318251-117318301	ovcar-3	ovarian:	n/a
15	chr12:117318251-117318301	HCPEpiC	choroid plexus:	n/a
16	chr12:117318251-117318301	AG09319	gingival:	n/a
17	chr12:117318251-117318301	HCF	heart:	n/a
18	chr12:117318251-117318301	SAEC	small airway:	n/a
19	chr12:117318251-117318301	IMR90	lung:	fetal
20	chr12:117318251-117318301	HEEpiC	esophagus:	n/a
21	chr12:117318251-117318301	HRCEpiC	kidney:	n/a
22	chr12:117318251-117318301	BJ	skin:	n/a
23	chr12:117318251-117318301	PANC-1	pancreas:	n/a
24	chr12:117318251-117318301	U87	brain:	n/a
25	chr12:117318251-117318301	AG10803	skin:	n/a
26	chr12:117318251-117318301	GM19239	blood:	n/a
27	chr12:117318251-117318301	PFSK-1	brain:	n/a
28	chr12:117318251-117318301	NHDF-neo	bronchial:	n/a
29	chr12:117318251-117318301	HUVEC	blood vessel:	n/a
30	chr12:117318251-117318301	SK-N-SH	brain:	n/a
31	chr12:117318251-117318301	HNPCEpiC	eye:	n/a
32	chr12:117318251-117318301	HRE	kidney:	n/a
33	chr12:117318251-117318301	H1-hESC	embryonic stem cell:	embryo
34	chr12:117318251-117318301	PrEC	prostate:	n/a
35	chr12:117318251-117318301	Caco-2	colon:	n/a
36	chr12:117318251-117318301	T-47D	breast:	n/a
37	chr12:117318251-117318301	SK-N-SH_RA	brain:	n/a
38	chr12:117318251-117318301	MCF10A-Er-Src	breast:	n/a
39	chr12:117318251-117318301	HCM	heart:	n/a
40	chr12:117318251-117318301	NHBE	bronchial:	n/a
41	chr12:117318251-117318301	Hepatocyte	liver:	n/a
42	chr12:117318251-117318301	HL-60	blood:	n/a
43	chr12:117318251-117318301	MCF-7	breast:	n/a
44	chr12:117318251-117318301	NB4	blood:	n/a
45	chr12:117318251-117318301	AG04449	skin:	fetal
46	chr12:117318251-117318301	HPAEpiC	pulmonary alveolar:	n/a
47	chr12:117318251-117318301	GM06990	blood:	n/a
48	chr12:117318251-117318301	Jurkat	blood:	n/a
49	chr12:117318251-117318301	GM12891	blood:	n/a
50	chr12:117318251-117318301	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117174783..117176988-chr12:117316113..117318785,2	MCF-7	breast:
2	chr12:117317029..117319301-chr12:117346996..117349580,2	MCF-7	breast:

No data

Variant related genes	Relation type
HRK	TF binding region
HRK	CpG island
ENSG00000111412	Chromatin interaction
ENSG00000135119	Chromatin interaction
ENSG00000174989	Chromatin interaction

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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3338350	chr12:117316869-117321167	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3341718	chr12:117318119-117320417	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3357378	chr12:117318194-117320742	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117316000-117320200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:117316200-117318400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:117316200-117318600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
4	chr12:117316200-117318800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr12:117316200-117320000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr12:117316200-117320200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:117316200-117320400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr12:117316200-117320400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:117316400-117318400	Enhancers	Pancreas	Pancrea
10	chr12:117316400-117318600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:117316400-117318600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:117316400-117318600	Bivalent Enhancer	Fetal Brain Male	brain
13	chr12:117316400-117318800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:117316400-117318800	Enhancers	Gastric	stomach
15	chr12:117316400-117319000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:117316400-117319400	Bivalent Enhancer	Lung	lung
17	chr12:117316400-117320200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:117316600-117318600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:117316600-117318600	Bivalent/Poised TSS	HSMMtube	muscle
20	chr12:117316600-117318800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
21	chr12:117316600-117320000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:117316800-117318800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:117316800-117318800	Bivalent/Poised TSS	NHDF-Ad	bronchial
24	chr12:117316800-117319600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
25	chr12:117316800-117320200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr12:117317000-117318600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
27	chr12:117317000-117318600	Bivalent Enhancer	Stomach Mucosa	stomach
28	chr12:117317000-117318600	Flanking Active TSS	Hela-S3	cervix
29	chr12:117317000-117318800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:117317000-117319000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr12:117317000-117320000	Bivalent Enhancer	Placenta	Placenta
32	chr12:117317200-117318600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
33	chr12:117317200-117318600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr12:117317200-117318800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
35	chr12:117317400-117318400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
36	chr12:117317400-117318400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
37	chr12:117317400-117318400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
38	chr12:117317400-117318400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr12:117317400-117318400	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr12:117317400-117319600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:117317600-117318400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr12:117317600-117318400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
43	chr12:117317600-117318600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:117317600-117318600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:117317600-117318600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr12:117317600-117318600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:117317600-117318600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
48	chr12:117317600-117318600	Flanking Bivalent TSS/Enh	A549	lung
49	chr12:117317600-117318800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
50	chr12:117317600-117318800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain

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