Variant report

Variant	rs7980144
Chromosome Location	chr12:117197849-117197850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:117197700-117197850	GM12871	blood:	n/a	n/a
2	MAX	chr12:117197537-117197859	K562	blood:	n/a	n/a
3	YY1	chr12:117197533-117198088	K562	blood:	n/a	n/a
4	RCOR1	chr12:117197535-117197933	K562	blood:	n/a	n/a
5	BACH1	chr12:117197545-117198049	H1-hESC	embryonic stem cell:	n/a	n/a
6	IRF1	chr12:117197540-117198038	K562	blood:	n/a	n/a
7	NR2F2	chr12:117197453-117198162	K562	blood:	n/a	n/a
8	POLR2A	chr12:117197470-117198094	HCT-116	colon:	n/a	n/a
9	TAF1	chr12:117197592-117197896	K562	blood:	n/a	n/a
10	POLR2A	chr12:117197493-117197997	GM12878	blood:	n/a	n/a
11	HEY1	chr12:117197546-117198403	K562	blood:	n/a	n/a
12	ZNF143	chr12:117197513-117197891	K562	blood:	n/a	n/a
13	MAFK	chr12:117197529-117198059	H1-hESC	embryonic stem cell:	n/a	n/a
14	UBTF	chr12:117197612-117197996	K562	blood:	n/a	n/a
15	MAFK	chr12:117197622-117198525	K562	blood:	n/a	n/a
16	TBP	chr12:117197521-117198354	K562	blood:	n/a	n/a
17	TBP	chr12:117197557-117197868	GM12878	blood:	n/a	n/a
18	CTCF	chr12:117197497-117197890	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr12:117197497-117197866	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:117197560-117198099	K562	blood:	n/a	n/a
21	NR2F2	chr12:117197590-117198005	K562	blood:	n/a	n/a
22	MAZ	chr12:117197520-117197985	K562	blood:	n/a	n/a
23	HEY1	chr12:117197544-117198029	K562	blood:	n/a	n/a
24	SPI1	chr12:117197834-117197982	K562	blood:	n/a	n/a
25	ZMIZ1	chr12:117197631-117198064	K562	blood:	n/a	n/a
26	POLR2A	chr12:117197589-117197861	H1-hESC	embryonic stem cell:	n/a	n/a
27	STAT5A	chr12:117197473-117197922	K562	blood:	n/a	n/a
28	CTCF	chr12:117197700-117197850	GM12873	blood:	n/a	n/a
29	HCFC1	chr12:117197513-117197929	K562	blood:	n/a	n/a
30	TEAD4	chr12:117197456-117198029	K562	blood:	n/a	n/a
31	ATF1	chr12:117197531-117197877	K562	blood:	n/a	n/a
32	ELF1	chr12:117197516-117198043	K562	blood:	n/a	n/a
33	POLR2A	chr12:117197602-117198557	K562	blood:	n/a	n/a
34	MYC	chr12:117197517-117198203	K562	blood:	n/a	n/a
35	CTCF	chr12:117197700-117197850	GM12872	blood:	n/a	n/a
36	YY1	chr12:117197488-117197971	K562	blood:	n/a	n/a
37	MAFF	chr12:117197566-117198193	K562	blood:	n/a	n/a
38	IRF1	chr12:117197531-117197985	K562	blood:	n/a	n/a
39	POLR2A	chr12:117197462-117198668	K562	blood:	n/a	n/a
40	POLR2A	chr12:117197568-117198497	K562	blood:	n/a	n/a
41	POLR2A	chr12:117197559-117198223	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr12:117197570-117197881	H1-hESC	embryonic stem cell:	n/a	n/a
43	TBL1XR1	chr12:117197589-117197976	K562	blood:	n/a	n/a
44	MAX	chr12:117197549-117198186	K562	blood:	n/a	n/a
45	TBL1XR1	chr12:117197834-117198008	K562	blood:	n/a	n/a
46	PML	chr12:117197591-117197943	K562	blood:	n/a	n/a
47	RAD21	chr12:117197438-117197881	H1-hESC	embryonic stem cell:	n/a	n/a
48	MXI1	chr12:117197616-117197879	K562	blood:	n/a	n/a
49	TAF1	chr12:117197517-117197961	K562	blood:	n/a	n/a
50	POLR2A	chr12:117197472-117197864	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117189265..117191529-chr12:117194956..117197970,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239374	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10047539	0.84[CHD][hapmap]
rs10735095	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10735096	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs10774887	1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[TSI][hapmap]
rs10850715	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs11068175	1.00[CHB][hapmap]
rs11611604	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2029854	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2029856	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2393084	1.00[CHB][hapmap]
rs2393086	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3926590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4301877	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4468446	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4486720	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4612912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767446	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767447	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767449	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs4767450	1.00[CHB][hapmap]
rs4767462	0.90[CHD][hapmap]
rs6490086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6490093	0.84[CHD][hapmap]
rs6490095	0.90[CHD][hapmap]
rs7304747	0.84[CHD][hapmap]
rs7313399	1.00[CHB][hapmap]
rs7314309	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs7953364	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7960408	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7974175	0.86[ASN][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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1048004	chr12:117170738-117219076	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv1039046	chr12:117170989-117225635	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117176800-117217400	Weak transcription	Primary T cells from cord blood	blood
2	chr12:117177000-117209400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:117177000-117217400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:117177000-117224400	Weak transcription	Brain Substantia Nigra	brain
5	chr12:117177200-117216800	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:117177200-117221000	Weak transcription	Fetal Brain Male	brain
7	chr12:117177400-117225800	Weak transcription	HepG2	liver
8	chr12:117177600-117217000	Weak transcription	GM12878-XiMat	blood
9	chr12:117179000-117217200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:117179600-117198800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:117182800-117198000	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:117188400-117217000	Weak transcription	Brain Angular Gyrus	brain
13	chr12:117188600-117217000	Weak transcription	Brain Anterior Caudate	brain
14	chr12:117189200-117203400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:117190400-117198400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:117191200-117221000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:117192000-117199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:117192000-117203200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:117192000-117217000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:117192200-117198000	Weak transcription	Brain Germinal Matrix	brain
21	chr12:117192200-117198600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:117192200-117202800	Weak transcription	Primary B cells from cord blood	blood
23	chr12:117194200-117198200	Weak transcription	Fetal Brain Female	brain
24	chr12:117196600-117208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:117196600-117217000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:117197400-117198000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr12:117197400-117198200	Enhancers	Primary B cells from peripheral blood	blood
28	chr12:117197400-117198400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:117197400-117198800	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:117197400-117200200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:117197600-117198000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr12:117197600-117198000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr12:117197600-117198000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr12:117197600-117198000	Enhancers	Fetal Muscle Trunk	muscle
35	chr12:117197600-117198000	Active TSS	Left Ventricle	heart
36	chr12:117197600-117198000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr12:117197600-117198000	Enhancers	Hela-S3	cervix
38	chr12:117197600-117198200	Active TSS	Aorta	Aorta
39	chr12:117197600-117198200	Genic enhancers	A549	lung
40	chr12:117197600-117198200	Strong transcription	Dnd41	blood
41	chr12:117197600-117198400	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr12:117197600-117198400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:117197600-117198400	Active TSS	Fetal Intestine Small	intestine
44	chr12:117197600-117198400	Active TSS	Right Ventricle	heart
45	chr12:117197600-117198600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr12:117197600-117198600	Active TSS	Fetal Intestine Large	intestine
47	chr12:117197600-117198600	Enhancers	Ovary	ovary
48	chr12:117197600-117198800	Active TSS	Fetal Thymus	thymus
49	chr12:117197600-117199000	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr12:117197600-117199800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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