Variant report

Variant	rs3809194
Chromosome Location	chr12:117319896-117319897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr12:117319150-117320074	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr12:117318420-117320691	H1-neurons	neurons:	n/a	n/a
3	CTBP2	chr12:117319876-117320529	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr12:117319157-117320101	ECC-1	luminal epithelium:	n/a	n/a
5	SIN3A	chr12:117318370-117320271	H1-hESC	embryonic stem cell:	n/a	chr12:117319818-117319827 chr12:117319782-117319791

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:117319856-117319906	HRE	kidney:	n/a
2	chr12:117319856-117319906	HAEpiC	amniotic membrane:	n/a
3	chr12:117319856-117319906	H1-hESC	embryonic stem cell:	embryo
4	chr12:117319856-117319906	HL-60	blood:	n/a
5	chr12:117319856-117319906	GM12891	blood:	n/a
6	chr12:117319856-117319906	AG09309	skin:	n/a
7	chr12:117319856-117319906	GM12892	blood:	n/a
8	chr12:117319856-117319906	HEK293	kidney:	embryo
9	chr12:117319856-117319906	AG04449	skin:	fetal
10	chr12:117319856-117319906	AoSMC	blood vessel:	n/a
11	chr12:117319856-117319906	U87	brain:	n/a
12	chr12:117319856-117319906	HIPEpiC	eye:	n/a
13	chr12:117319856-117319906	MCF-7	breast:	n/a
14	chr12:117319856-117319906	RPTEC	kidney:	n/a
15	chr12:117319856-117319906	GM06990	blood:	n/a
16	chr12:117319856-117319906	Hepatocyte	liver:	n/a
17	chr12:117319856-117319906	HRPEpiC	eye:	n/a
18	chr12:117319856-117319906	HepG2	liver:	n/a
19	chr12:117319856-117319906	HUVEC	blood vessel:	n/a
20	chr12:117319856-117319906	CMK	blood:	n/a
21	chr12:117319856-117319906	SKMC	muscle:	n/a
22	chr12:117319856-117319906	AG09319	gingival:	n/a
23	chr12:117319856-117319906	IMR90	lung:	fetal
24	chr12:117319856-117319906	Jurkat	blood:	n/a
25	chr12:117319856-117319906	ECC-1	luminal epithelium:	n/a
26	chr12:117319856-117319906	PANC-1	pancreas:	n/a
27	chr12:117319856-117319906	Hela-S3	cervix:	n/a
28	chr12:117319856-117319906	HRCEpiC	kidney:	n/a
29	chr12:117319856-117319906	HCM	heart:	n/a
30	chr12:117319856-117319906	NHBE	bronchial:	n/a
31	chr12:117319856-117319906	SAEC	small airway:	n/a
32	chr12:117319856-117319906	BJ	skin:	n/a
33	chr12:117319856-117319906	A549	lung:	n/a
34	chr12:117319856-117319906	K562	blood:	n/a
35	chr12:117319856-117319906	AG04450	lung:	fetal
36	chr12:117319856-117319906	NT2-D1	testis:	n/a
37	chr12:117319856-117319906	MCF10A-Er-Src	breast:	n/a
38	chr12:117319856-117319906	PFSK-1	brain:	n/a
39	chr12:117319856-117319906	HCPEpiC	choroid plexus:	n/a
40	chr12:117319856-117319906	BE2_C	brain:	n/a
41	chr12:117319856-117319906	HPAEpiC	pulmonary alveolar:	n/a
42	chr12:117319856-117319906	SK-N-SH	brain:	n/a
43	chr12:117319856-117319906	ProgFib	skin:	n/a
44	chr12:117319856-117319906	LNCaP	prostate:	n/a
45	chr12:117319856-117319906	ovcar-3	ovarian:	n/a
46	chr12:117319856-117319906	NB4	blood:	n/a
47	chr12:117319856-117319906	SK-N-MC	brain:	n/a
48	chr12:117319856-117319906	T-47D	breast:	n/a
49	chr12:117319856-117319906	HCT-116	colon:	n/a
50	chr12:117319856-117319906	GM19239	blood:	n/a

No data

Variant related genes	Relation type
HRK	TF binding region
HRK	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11068204	1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs11068208	1.00[CHB][hapmap];0.88[GIH][hapmap];0.93[EUR][1000 genomes]
rs11068210	0.93[EUR][1000 genomes]
rs11068212	0.93[EUR][1000 genomes]
rs11068215	0.93[EUR][1000 genomes]
rs11068216	0.93[EUR][1000 genomes]
rs11068217	0.93[EUR][1000 genomes]
rs11068275	0.85[CHB][hapmap]
rs12227855	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16947046	1.00[CHB][hapmap]
rs3748264	0.93[EUR][1000 genomes]
rs7136846	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs73393789	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7958222	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7959242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9783443	0.93[EUR][1000 genomes]

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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117316000-117320200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:117316200-117320000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:117316200-117320200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:117316200-117320400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr12:117316200-117320400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:117316400-117320200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:117316600-117320000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:117316800-117320200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:117317000-117320000	Bivalent Enhancer	Placenta	Placenta
10	chr12:117317600-117320200	Flanking Bivalent TSS/Enh	Thymus	Thymus
11	chr12:117317600-117320400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr12:117317800-117320400	Bivalent Enhancer	Liver	Liver
13	chr12:117318200-117320000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr12:117318400-117320000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:117318400-117320000	Bivalent Enhancer	Spleen	Spleen
16	chr12:117318800-117320600	Bivalent Enhancer	Fetal Brain Male	brain
17	chr12:117318800-117320800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:117319200-117320000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:117319200-117320000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
20	chr12:117319200-117320000	Bivalent Enhancer	HMEC	breast
21	chr12:117319200-117320200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr12:117319200-117320200	Bivalent Enhancer	Left Ventricle	heart
23	chr12:117319200-117320400	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr12:117319400-117320000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:117319400-117320000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:117319400-117320000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
27	chr12:117319400-117320000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr12:117319400-117320000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
29	chr12:117319400-117320000	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr12:117319400-117320000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr12:117319400-117320000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
32	chr12:117319400-117320000	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr12:117319400-117320200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr12:117319400-117320200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:117319400-117320200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:117319400-117320200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:117319400-117320200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr12:117319400-117320200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:117319400-117320200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
40	chr12:117319400-117320200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
41	chr12:117319400-117320200	Bivalent Enhancer	Brain Substantia Nigra	brain
42	chr12:117319400-117320200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr12:117319400-117320200	Bivalent Enhancer	Stomach Mucosa	stomach
44	chr12:117319400-117320200	Bivalent Enhancer	GM12878-XiMat	blood
45	chr12:117319400-117320200	Bivalent/Poised TSS	HSMM	muscle
46	chr12:117319400-117320400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:117319400-117320400	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr12:117319400-117320400	Bivalent Enhancer	Fetal Heart	heart
49	chr12:117319400-117320400	Bivalent Enhancer	Fetal Lung	lung
50	chr12:117319400-117320600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

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