Variant report

Variant	rs7314309
Chromosome Location	chr12:117209871-117209872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117208783..117211588-chr12:117216119..117217810,2	MCF-7	breast:
2	chr12:117207922..117210742-chr12:117210782..117213183,2	MCF-7	breast:
3	chr12:117207905..117210327-chr12:117210901..117212728,2	K562	blood:

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

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

rs_ID	r²[population]
rs10047539	0.92[CHD][hapmap]
rs10735096	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10744883	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10774887	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10774889	1.00[YRI][hapmap]
rs10850715	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565988	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2393084	1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[ASN][1000 genomes]
rs2393085	0.88[ASN][1000 genomes]
rs3926590	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs4301877	1.00[CHB][hapmap]
rs4612912	1.00[CHB][hapmap]
rs4767445	1.00[CHB][hapmap]
rs4767448	1.00[CHB][hapmap]
rs4767449	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767451	0.83[EUR][1000 genomes]
rs4767452	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4767462	0.82[CHD][hapmap]
rs6490086	1.00[CHB][hapmap]
rs6490093	0.92[CHD][hapmap];1.00[YRI][hapmap]
rs6490095	0.82[CHD][hapmap]
rs7135526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297890	0.82[CEU][hapmap]
rs7304747	0.92[CHD][hapmap]
rs7306658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310216	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs7313399	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980144	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs9300333	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:52 , 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	chr12:117177000-117217400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:117177000-117224400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:117177200-117216800	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:117177200-117221000	Weak transcription	Fetal Brain Male	brain
6	chr12:117177400-117225800	Weak transcription	HepG2	liver
7	chr12:117177600-117217000	Weak transcription	GM12878-XiMat	blood
8	chr12:117179000-117217200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:117188400-117217000	Weak transcription	Brain Angular Gyrus	brain
10	chr12:117188600-117217000	Weak transcription	Brain Anterior Caudate	brain
11	chr12:117191200-117221000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:117192000-117217000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:117196600-117217000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:117198000-117213600	Weak transcription	Fetal Kidney	kidney
15	chr12:117198000-117256200	Weak transcription	Hela-S3	cervix
16	chr12:117198200-117217000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:117198200-117233600	Weak transcription	Fetal Stomach	stomach
18	chr12:117198200-117236600	Weak transcription	A549	lung
19	chr12:117198400-117211600	Weak transcription	Thymus	Thymus
20	chr12:117198400-117217000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:117198400-117217600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:117198600-117213200	Weak transcription	Fetal Intestine Small	intestine
23	chr12:117198600-117223800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:117198600-117233600	Weak transcription	Right Atrium	heart
25	chr12:117198800-117220800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:117199600-117211000	Weak transcription	Brain Germinal Matrix	brain
27	chr12:117199600-117211800	Weak transcription	Fetal Thymus	thymus
28	chr12:117199600-117215600	Weak transcription	K562	blood
29	chr12:117199600-117217000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:117203200-117217000	Weak transcription	Primary B cells from cord blood	blood
31	chr12:117204200-117210200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:117204200-117210600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:117204600-117211600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:117204800-117216800	Weak transcription	Dnd41	blood
35	chr12:117205000-117211200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:117205200-117216800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:117205400-117211600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:117205400-117216200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:117205400-117216800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:117206400-117217000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:117206800-117211000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:117207200-117210200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:117208600-117211200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:117209000-117217000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:117209200-117210000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:117209400-117210000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:117209400-117211800	Enhancers	HUVEC	blood vessel
48	chr12:117209600-117210000	Enhancers	NHEK	skin
49	chr12:117209800-117211000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:117209800-117211000	Weak transcription	Fetal Brain Female	brain

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