Variant report

Variant	rs16919969
Chromosome Location	chr12:32662823-32662824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10506092	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052034	0.86[JPT][hapmap]
rs12579931	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12830147	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919947	1.00[ASW][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16919964	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16920000	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1875311	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2047642	0.98[ASN][1000 genomes]
rs34174269	0.87[ASN][1000 genomes]
rs34300980	0.98[EUR][1000 genomes]
rs34792203	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35563266	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35590458	0.98[ASN][1000 genomes]
rs35885876	0.83[ASN][1000 genomes]
rs56838031	0.89[ASN][1000 genomes]
rs60069665	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67649350	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7135529	1.00[EUR][1000 genomes]
rs7297744	0.98[ASN][1000 genomes]
rs7305247	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7311935	0.98[ASN][1000 genomes]
rs7315682	0.87[CHD][hapmap]
rs7966521	0.81[ASW][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap]
rs7967302	0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv898970	chr12:32622097-32680236	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32655200-32686000	Weak transcription	Lung	lung
2	chr12:32656000-32666000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:32656000-32668000	Weak transcription	Fetal Thymus	thymus
4	chr12:32656200-32668000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:32656400-32685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:32658600-32667800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:32658600-32682000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:32659200-32664400	Weak transcription	NHEK	skin
9	chr12:32659400-32665800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:32659400-32667000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:32659600-32663400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr12:32659600-32668000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:32659600-32675200	Weak transcription	Fetal Stomach	stomach
14	chr12:32659800-32665400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:32659800-32669000	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:32660600-32664200	Enhancers	Liver	Liver
17	chr12:32660800-32663000	Enhancers	Left Ventricle	heart
18	chr12:32661000-32663800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:32661000-32668000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:32661000-32668000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:32661200-32663000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:32661200-32665400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:32661200-32668200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:32661200-32675600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:32661400-32668200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:32661400-32668800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:32661600-32665200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:32661600-32668000	Weak transcription	HUVEC	blood vessel
29	chr12:32661800-32665200	Weak transcription	Right Ventricle	heart
30	chr12:32661800-32665400	Weak transcription	Gastric	stomach
31	chr12:32661800-32665400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:32661800-32665600	Weak transcription	Adipose Nuclei	Adipose
33	chr12:32661800-32667800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:32661800-32668000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:32661800-32668200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr12:32661800-32674000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:32661800-32674000	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:32662000-32665400	Weak transcription	Right Atrium	heart
39	chr12:32662000-32668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:32662000-32671000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:32662000-32674800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:32662000-32675600	Weak transcription	Fetal Brain Male	brain
43	chr12:32662400-32663000	Enhancers	Ovary	ovary
44	chr12:32662600-32663000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr12:32662600-32663000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:32662600-32663000	Enhancers	Fetal Intestine Small	intestine
47	chr12:32662600-32663000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr12:32662600-32663000	Enhancers	Pancreas	Pancrea
49	chr12:32662600-32663000	Enhancers	Psoas Muscle	Psoas
50	chr12:32662600-32663000	Enhancers	Sigmoid Colon	Sigmoid Colon

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