Variant report

Variant	rs12307979
Chromosome Location	chr12:46247653-46247654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10161536	0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10506264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10880858	0.80[YRI][hapmap]
rs11183248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574971	0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296933	0.80[YRI][hapmap]
rs12298184	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309988	0.80[YRI][hapmap]
rs12314576	1.00[AMR][1000 genomes]
rs1549591	1.00[EUR][1000 genomes]
rs15852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17096316	1.00[EUR][1000 genomes]
rs61009645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6582575	0.80[YRI][hapmap];0.81[AFR][1000 genomes]
rs6582580	1.00[EUR][1000 genomes]
rs7304785	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7306774	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308856	0.95[GIH][hapmap]
rs7308893	0.80[YRI][hapmap]
rs7310702	0.95[GIH][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74081279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74081280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74081611	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7965539	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970212	1.00[EUR][1000 genomes]
rs7970367	1.00[EUR][1000 genomes]
rs7971936	0.95[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7972499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975170	0.95[GIH][hapmap]
rs7975408	0.80[YRI][hapmap]

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	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832396	chr12:46155424-46310583	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46224000-46249400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:46228800-46248200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:46228800-46249000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:46229800-46248800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:46229800-46267800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:46230000-46249200	Strong transcription	Dnd41	blood
7	chr12:46230000-46249400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:46230000-46249600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:46230000-46249800	Strong transcription	Fetal Thymus	thymus
10	chr12:46230200-46248600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:46230200-46248800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:46230400-46248000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr12:46230600-46249200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:46236600-46248200	Strong transcription	Placenta	Placenta
15	chr12:46237600-46248600	Strong transcription	Primary hematopoietic stem cells	blood
16	chr12:46238400-46249000	Strong transcription	HSMM	muscle
17	chr12:46240000-46248400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:46240400-46247800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:46240400-46248800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:46240600-46248600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:46240600-46248800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:46241200-46248600	Strong transcription	A549	lung
23	chr12:46241400-46248000	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:46241600-46248200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:46241800-46248000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:46241800-46248000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:46241800-46248800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:46242000-46247800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:46242000-46247800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:46242000-46247800	Strong transcription	HepG2	liver
31	chr12:46242000-46248000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr12:46242000-46248000	Strong transcription	NHEK	skin
33	chr12:46242000-46248400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:46242000-46249600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:46242200-46248000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:46242200-46248000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr12:46242200-46272000	Weak transcription	Stomach Mucosa	stomach
38	chr12:46242600-46248000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:46242600-46248600	Strong transcription	Fetal Kidney	kidney
40	chr12:46242800-46247800	Strong transcription	Adipose Nuclei	Adipose
41	chr12:46242800-46247800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:46243200-46248000	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr12:46243200-46248000	Strong transcription	Liver	Liver
44	chr12:46243200-46248200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:46243200-46248200	Strong transcription	Primary T cells from cord blood	blood
46	chr12:46243200-46248200	Strong transcription	Fetal Muscle Leg	muscle
47	chr12:46243200-46248800	Strong transcription	Primary B cells from cord blood	blood
48	chr12:46243200-46249800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:46243400-46247800	Strong transcription	HSMMtube	muscle
50	chr12:46243400-46248000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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