Variant report

Variant	rs10747932
Chromosome Location	chr12:40246664-40246665
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	chr12:40245063..40247132-chr12:40258548..40261407,2	K562	blood:
2	chr12:40239652..40241691-chr12:40246024..40247653,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10747886	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs10784079	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs10784118	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10784208	0.96[ASN][1000 genomes]
rs10784223	0.86[ASN][1000 genomes]
rs10784228	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10784234	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10877533	0.92[ASN][1000 genomes]
rs12813110	0.87[ASN][1000 genomes]
rs4293188	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4310675	0.88[ASN][1000 genomes]
rs4318032	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4350423	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs4357761	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4370998	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382970	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4388962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4423249	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4429129	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4433640	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4473001	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4473002	0.87[ASN][1000 genomes]
rs4531537	0.96[ASN][1000 genomes]
rs4539398	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs4598727	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs4604958	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs4638370	0.88[ASN][1000 genomes]
rs4638371	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs4768188	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs4768189	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6581365	0.96[ASN][1000 genomes]
rs6581378	0.88[ASN][1000 genomes]
rs6581403	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6581405	0.84[ASN][1000 genomes]
rs7133478	0.94[ASN][1000 genomes]
rs7134335	0.94[ASN][1000 genomes]
rs7135701	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7294916	0.84[ASN][1000 genomes]
rs7295029	0.89[ASN][1000 genomes]
rs7295344	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7299208	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7304797	0.84[ASN][1000 genomes]
rs7306234	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7308155	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs7315452	0.86[ASN][1000 genomes]
rs7358574	0.88[ASN][1000 genomes]
rs7958983	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs7959259	0.95[ASN][1000 genomes]
rs7960098	0.95[ASN][1000 genomes]
rs7961625	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7962260	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs7963511	0.88[ASN][1000 genomes]
rs7963645	0.84[ASN][1000 genomes]
rs7966294	0.88[ASN][1000 genomes]
rs7967956	0.85[ASN][1000 genomes]
rs7968509	0.87[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	nsv899025	chr12:40191778-40321846	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1049214	chr12:40197549-40326495	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40193800-40255800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:40199200-40265400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:40209200-40268800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:40209400-40249800	Weak transcription	Aorta	Aorta
5	chr12:40213000-40248200	Weak transcription	Fetal Intestine Large	intestine
6	chr12:40219800-40272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:40222200-40259400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:40226400-40275000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:40232600-40267800	Weak transcription	Liver	Liver
10	chr12:40233000-40259400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:40233000-40259800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:40233200-40250400	Weak transcription	Fetal Intestine Small	intestine
13	chr12:40233600-40257400	Weak transcription	Right Ventricle	heart
14	chr12:40235200-40269200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:40240400-40264600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:40241400-40250000	Weak transcription	Lung	lung
17	chr12:40243400-40246800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:40243400-40264000	Weak transcription	Fetal Kidney	kidney
19	chr12:40244400-40259800	Weak transcription	Adipose Nuclei	Adipose
20	chr12:40246000-40247000	Enhancers	HMEC	breast
21	chr12:40246200-40247400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:40246400-40247000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:40246400-40247200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:40246400-40247200	Strong transcription	Left Ventricle	heart
25	chr12:40246600-40247000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:40246600-40247000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:40246600-40247200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
28	chr12:40246600-40260800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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