Variant report

Variant	rs12313807
Chromosome Location	chr12:117490609-117490610
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225965395..225967471-chr12:117490550..117492773,2	MCF-7	breast:
2	chr12:117488907..117491503-chr12:117528799..117530966,2	K562	blood:

Variant related genes	Relation type
ENSG00000143742	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10850749	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068265	0.96[ASN][1000 genomes]
rs11068267	0.96[ASN][1000 genomes]
rs11068268	0.96[ASN][1000 genomes]
rs11068275	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs11068278	0.92[ASN][1000 genomes]
rs11068279	0.84[CHB][hapmap];0.92[ASN][1000 genomes]
rs11068285	0.96[ASN][1000 genomes]
rs11068288	0.96[ASN][1000 genomes]
rs11068304	1.00[ASN][1000 genomes]
rs11068305	1.00[ASN][1000 genomes]
rs12227740	1.00[ASN][1000 genomes]
rs12228058	1.00[ASN][1000 genomes]
rs12230860	0.96[ASN][1000 genomes]
rs12297748	1.00[ASN][1000 genomes]
rs12313968	1.00[ASN][1000 genomes]
rs12318749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17582998	0.96[ASN][1000 genomes]
rs17583110	0.96[ASN][1000 genomes]
rs28454853	1.00[ASN][1000 genomes]
rs57066310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57212223	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58547422	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58697440	1.00[EUR][1000 genomes]
rs59143111	1.00[ASN][1000 genomes]
rs60601556	1.00[ASN][1000 genomes]
rs72487544	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:62 , 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	chr12:117484000-117490800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:117484000-117493600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:117484400-117497800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:117484800-117498200	Weak transcription	Thymus	Thymus
8	chr12:117486600-117491000	Weak transcription	Stomach Mucosa	stomach
9	chr12:117486600-117500400	Weak transcription	Fetal Lung	lung
10	chr12:117486800-117491800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:117486800-117498800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:117487000-117493400	Weak transcription	Lung	lung
13	chr12:117487200-117492000	Weak transcription	Gastric	stomach
14	chr12:117487200-117500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:117487400-117491000	Weak transcription	Dnd41	blood
16	chr12:117487400-117491400	Weak transcription	Spleen	Spleen
17	chr12:117487400-117494200	Weak transcription	A549	lung
18	chr12:117487400-117497000	Weak transcription	Ovary	ovary
19	chr12:117488200-117491200	Weak transcription	HepG2	liver
20	chr12:117488200-117491400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:117488200-117491600	Enhancers	Pancreas	Pancrea
22	chr12:117488400-117491200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:117488400-117491800	Enhancers	Left Ventricle	heart
24	chr12:117488600-117496800	Weak transcription	Right Atrium	heart
25	chr12:117488800-117491000	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr12:117488800-117491400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:117488800-117491600	Enhancers	GM12878-XiMat	blood
28	chr12:117488800-117491800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr12:117489000-117491400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr12:117489000-117491400	Weak transcription	Fetal Brain Male	brain
31	chr12:117489000-117492200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:117489200-117491200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr12:117489200-117491600	Enhancers	Primary B cells from peripheral blood	blood
34	chr12:117489200-117491800	Enhancers	Fetal Thymus	thymus
35	chr12:117489200-117493600	Enhancers	Fetal Heart	heart
36	chr12:117489400-117491000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:117489400-117491400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:117489400-117491600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:117489600-117491600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:117489600-117500400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:117489800-117491000	Enhancers	Brain Germinal Matrix	brain
42	chr12:117489800-117491200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:117489800-117491200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr12:117489800-117491600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:117489800-117492200	Enhancers	Right Ventricle	heart
46	chr12:117490000-117491400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr12:117490000-117491600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr12:117490000-117491800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:117490200-117490800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:117490200-117490800	Active TSS	Brain Anterior Caudate	brain

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