Variant report

Variant	rs34759311
Chromosome Location	chr12:32703518-32703519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1875059	0.97[ASN][1000 genomes]
rs34072072	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35944077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	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
3	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
4	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
5	nsv1037224	chr12:32698189-32721994	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv541456	chr12:32698189-32721994	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:32696000-32704200	Enhancers	Ovary	ovary
3	chr12:32697400-32704200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:32698800-32719600	Weak transcription	Colonic Mucosa	Colon
5	chr12:32699200-32704200	Enhancers	Left Ventricle	heart
6	chr12:32699200-32705600	Enhancers	Psoas Muscle	Psoas
7	chr12:32699400-32704200	Enhancers	Lung	lung
8	chr12:32699600-32714800	Weak transcription	Fetal Intestine Large	intestine
9	chr12:32700000-32711400	Weak transcription	HepG2	liver
10	chr12:32700600-32703600	Enhancers	Fetal Muscle Leg	muscle
11	chr12:32701600-32704200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:32701600-32704200	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:32701800-32711400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:32702000-32711200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:32702000-32711400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:32702000-32711400	Weak transcription	NHEK	skin
17	chr12:32702000-32719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:32702000-32719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:32702200-32704200	Enhancers	Primary B cells from cord blood	blood
20	chr12:32702400-32704400	Enhancers	Gastric	stomach
21	chr12:32702400-32705400	Weak transcription	Fetal Intestine Small	intestine
22	chr12:32702400-32711200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:32702400-32711200	Weak transcription	Esophagus	oesophagus
24	chr12:32702600-32704800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:32702800-32710800	Weak transcription	Liver	Liver
26	chr12:32702800-32711400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:32702800-32717200	Weak transcription	HUVEC	blood vessel
28	chr12:32703000-32703600	Enhancers	Adipose Nuclei	Adipose
29	chr12:32703000-32703600	Enhancers	Brain Hippocampus Middle	brain
30	chr12:32703000-32703600	Enhancers	HSMMtube	muscle
31	chr12:32703000-32704200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:32703000-32704200	Enhancers	Right Atrium	heart
33	chr12:32703000-32704400	Enhancers	Brain Angular Gyrus	brain
34	chr12:32703000-32704400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr12:32703000-32704600	Enhancers	Brain Anterior Caudate	brain
36	chr12:32703000-32704600	Enhancers	Brain Substantia Nigra	brain
37	chr12:32703000-32704600	Enhancers	Fetal Heart	heart
38	chr12:32703000-32705200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:32703000-32705400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:32703000-32705400	Weak transcription	Fetal Stomach	stomach
41	chr12:32703000-32706200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:32703000-32707600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr12:32703000-32708200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr12:32703000-32711000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:32703000-32711200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:32703000-32711200	Weak transcription	Aorta	Aorta
47	chr12:32703000-32711200	Weak transcription	Pancreas	Pancrea
48	chr12:32703000-32711200	Weak transcription	Right Ventricle	heart
49	chr12:32703000-32711400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:32703000-32711400	Weak transcription	Rectal Mucosa Donor 29	rectum

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