Variant report

Variant	rs11068304
Chromosome Location	chr12:117489618-117489619
allele	A/C
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	POLR2A	chr12:117488694-117489730	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117488907..117491503-chr12:117528799..117530966,2	K562	blood:
2	chr12:117477087..117480724-chr12:117486826..117489814,3	MCF-7	breast:

Variant related genes	Relation type
TESC	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10850749	1.00[ASN][1000 genomes]
rs11068233	1.00[EUR][1000 genomes]
rs11068265	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068267	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068268	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068275	0.96[ASN][1000 genomes]
rs11068278	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068279	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068285	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068288	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12227740	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228058	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230860	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12297748	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301340	1.00[AMR][1000 genomes]
rs12305518	1.00[AMR][1000 genomes]
rs12313807	1.00[ASN][1000 genomes]
rs12313968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12318749	1.00[ASN][1000 genomes]
rs17582998	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17583110	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28454853	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57066310	1.00[ASN][1000 genomes]
rs57212223	1.00[ASN][1000 genomes]
rs58547422	1.00[ASN][1000 genomes]
rs59143111	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60601556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72487544	1.00[EUR][1000 genomes];0.96[ASN][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	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117483800-117498000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:117483800-117498200	Weak transcription	Brain Angular Gyrus	brain
3	chr12:117483800-117498200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:117484000-117490000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:117484000-117490800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:117484000-117493600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:117484400-117490200	Weak transcription	Fetal Brain Female	brain
8	chr12:117484400-117497800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:117484800-117498200	Weak transcription	Thymus	Thymus
10	chr12:117485800-117490600	Enhancers	K562	blood
11	chr12:117486400-117490200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:117486600-117490400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:117486600-117491000	Weak transcription	Stomach Mucosa	stomach
14	chr12:117486600-117500400	Weak transcription	Fetal Lung	lung
15	chr12:117486800-117490000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:117486800-117491800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:117486800-117498800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:117487000-117490200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:117487000-117490400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:117487000-117493400	Weak transcription	Lung	lung
21	chr12:117487200-117490200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:117487200-117490400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:117487200-117492000	Weak transcription	Gastric	stomach
24	chr12:117487200-117500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:117487400-117489800	Weak transcription	Right Ventricle	heart
26	chr12:117487400-117490200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:117487400-117490400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:117487400-117490600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:117487400-117491000	Weak transcription	Dnd41	blood
30	chr12:117487400-117491400	Weak transcription	Spleen	Spleen
31	chr12:117487400-117494200	Weak transcription	A549	lung
32	chr12:117487400-117497000	Weak transcription	Ovary	ovary
33	chr12:117488200-117491200	Weak transcription	HepG2	liver
34	chr12:117488200-117491400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr12:117488200-117491600	Enhancers	Pancreas	Pancrea
36	chr12:117488400-117489800	Weak transcription	Brain Germinal Matrix	brain
37	chr12:117488400-117490000	Enhancers	Fetal Intestine Small	intestine
38	chr12:117488400-117490600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr12:117488400-117491200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:117488400-117491800	Enhancers	Left Ventricle	heart
41	chr12:117488600-117490000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr12:117488600-117490400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:117488600-117496800	Weak transcription	Right Atrium	heart
44	chr12:117488800-117491000	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr12:117488800-117491400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:117488800-117491600	Enhancers	GM12878-XiMat	blood
47	chr12:117488800-117491800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr12:117489000-117490200	Enhancers	Fetal Intestine Large	intestine
49	chr12:117489000-117491400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr12:117489000-117491400	Weak transcription	Fetal Brain Male	brain

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