Variant report

Variant	rs10850709
Chromosome Location	chr12:117197304-117197305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:117197240-117197390	GM12872	blood:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000239374	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10161190	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850710	0.98[ASN][1000 genomes]
rs10850711	0.98[ASN][1000 genomes]
rs10850713	0.84[ASN][1000 genomes]
rs10850714	0.84[ASN][1000 genomes]
rs10850716	0.82[ASN][1000 genomes]
rs11068171	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068177	0.82[ASN][1000 genomes]
rs11068182	0.82[ASN][1000 genomes]
rs11068184	0.82[ASN][1000 genomes]
rs11068185	0.80[ASN][1000 genomes]
rs11068187	0.80[ASN][1000 genomes]
rs11068188	0.80[ASN][1000 genomes]
rs11068189	0.80[ASN][1000 genomes]
rs11068190	0.80[ASN][1000 genomes]
rs11068191	0.80[ASN][1000 genomes]
rs11503182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231554	0.84[ASN][1000 genomes]
rs12231952	0.84[ASN][1000 genomes]
rs12296993	0.82[ASN][1000 genomes]
rs12302528	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12305605	0.82[ASN][1000 genomes]
rs12308877	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309159	0.80[ASN][1000 genomes]
rs12312295	0.80[ASN][1000 genomes]
rs12314176	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12322695	0.98[ASN][1000 genomes]
rs12426049	0.84[ASN][1000 genomes]
rs34454980	0.80[ASN][1000 genomes]
rs56174906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56692573	0.80[ASN][1000 genomes]
rs58367668	0.80[ASN][1000 genomes]
rs7137138	0.84[ASN][1000 genomes]
rs7307465	0.82[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117176600-117197600	Weak transcription	Aorta	Aorta
2	chr12:117176600-117197800	Weak transcription	Right Atrium	heart
3	chr12:117176800-117197600	Weak transcription	Thymus	Thymus
4	chr12:117176800-117217400	Weak transcription	Primary T cells from cord blood	blood
5	chr12:117177000-117209400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:117177000-117217400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:117177000-117224400	Weak transcription	Brain Substantia Nigra	brain
8	chr12:117177200-117197600	Weak transcription	A549	lung
9	chr12:117177200-117216800	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:117177200-117221000	Weak transcription	Fetal Brain Male	brain
11	chr12:117177400-117225800	Weak transcription	HepG2	liver
12	chr12:117177600-117217000	Weak transcription	GM12878-XiMat	blood
13	chr12:117179000-117197600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:117179000-117217200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:117179600-117198800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:117180800-117197400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:117182800-117197800	Weak transcription	Fetal Stomach	stomach
18	chr12:117182800-117198000	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:117186200-117197800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:117188400-117197400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:117188400-117217000	Weak transcription	Brain Angular Gyrus	brain
22	chr12:117188600-117217000	Weak transcription	Brain Anterior Caudate	brain
23	chr12:117189200-117203400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:117190200-117197800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:117190400-117198400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:117191200-117221000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:117191800-117197600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:117192000-117197400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:117192000-117197600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:117192000-117197600	Weak transcription	Dnd41	blood
31	chr12:117192000-117199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:117192000-117203200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:117192000-117217000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:117192200-117197600	Weak transcription	Fetal Thymus	thymus
35	chr12:117192200-117198000	Weak transcription	Brain Germinal Matrix	brain
36	chr12:117192200-117198600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:117192200-117202800	Weak transcription	Primary B cells from cord blood	blood
38	chr12:117192600-117197600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:117192600-117197600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:117193600-117197800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:117194200-117198200	Weak transcription	Fetal Brain Female	brain
42	chr12:117196600-117208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:117196600-117217000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:117196800-117197400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:117197200-117197600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr12:117197200-117197600	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links