Variant report

Variant	rs34174269
Chromosome Location	chr12:32670218-32670219
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10506092	0.98[ASN][1000 genomes]
rs12830147	0.87[ASN][1000 genomes]
rs16919947	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16919964	0.87[ASN][1000 genomes]
rs16919969	0.87[ASN][1000 genomes]
rs16920000	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1875311	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2047642	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34300980	0.80[ASN][1000 genomes]
rs34792203	0.87[ASN][1000 genomes]
rs35563266	0.91[ASN][1000 genomes]
rs35590458	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35885876	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56838031	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60069665	0.87[ASN][1000 genomes]
rs67649350	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7297744	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7305247	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7311935	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7967302	0.91[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	chr12:32656400-32685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:32658600-32682000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:32659600-32675200	Weak transcription	Fetal Stomach	stomach
5	chr12:32661200-32675600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:32661800-32674000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:32661800-32674000	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:32662000-32671000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:32662000-32674800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:32662000-32675600	Weak transcription	Fetal Brain Male	brain
11	chr12:32663000-32674600	Weak transcription	Brain Angular Gyrus	brain
12	chr12:32663200-32673800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:32665800-32675600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:32666400-32675600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:32666600-32674600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:32666600-32685200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:32668200-32675400	Weak transcription	Placenta	Placenta
18	chr12:32668200-32685800	Weak transcription	Gastric	stomach
19	chr12:32668400-32670600	Weak transcription	Left Ventricle	heart
20	chr12:32668400-32674400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:32668400-32675200	Weak transcription	Ovary	ovary
22	chr12:32668400-32678000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:32668600-32674600	Weak transcription	Fetal Intestine Small	intestine
25	chr12:32668600-32675000	Weak transcription	HSMM	muscle
26	chr12:32668800-32670400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:32668800-32671000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:32668800-32686600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:32669000-32671200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:32669000-32673800	Weak transcription	Brain Substantia Nigra	brain
31	chr12:32669000-32674600	Weak transcription	Primary T cells from cord blood	blood
32	chr12:32669200-32671000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:32669200-32673600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:32669200-32674400	Weak transcription	Primary B cells from cord blood	blood
35	chr12:32669200-32675200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:32669200-32675200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:32669200-32675600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:32669400-32671000	Weak transcription	Pancreas	Pancrea
39	chr12:32669400-32673600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:32669400-32673800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:32669400-32674000	Weak transcription	Right Atrium	heart
42	chr12:32669400-32674200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr12:32669600-32670600	Weak transcription	Psoas Muscle	Psoas
44	chr12:32669600-32673000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:32669600-32674000	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:32669600-32674400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:32669800-32671000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr12:32669800-32672800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr12:32669800-32674200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:32669800-32687000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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